Anna Lindstrand

Om mig
Publikationer
Forskningsbidrag
CV
Populärvetenskap och samverkan

Om mig

Jag arbetar som kliniskt aktiv forskare på KI/KS och leder en forskargrupp som arbetar med translationell forskning i frontlinjen med fokus på underliggande cellulära mekanismer hos de patienter med sällsynta genetiska sjukdomar jag träffar i mitt arbete som specialistläkare i klinisk genetik. Mitt huvudområde är studier av strukturella varianter, hur de uppstår och hur de orsakara sällsynta sjukdomar och blodcancer. Med ny genteknik som exom- och helgenom- sekvensering kan vi snabbt kartlägga genetiken hos patienterna och identifiera misstänkta sjukdomsgener. För att stärka kopplingen mellan genetisk förändring och kliniska symtom utförs sedan funktionella studier i patientprov, cellinjer samt i inducerade stamceller. Våra fynd förs sedan tillbaka till vården i form av ny information om geners funktion och som genetisk rådgivning till den specifika familjen.

Forskargruppsledare för gruppen Sällsynta diagnoser, Institutionen för molekylär medicin och kirurgi

Forskningsbeskrivning

Se den engelska sidan för mer information

Artiklar

Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2025;112(8):1769-1777
The evolution of health data ecosystems: An international survey
Lerner-Ellis JP; Price EM; Subhani S; Boughtwood T; Brion M-J; Rendon A; Cividanes L; Gemmer J; Ciofani D; Bertin N; Wee SS; Robertson S; Baz B; Crameri K; Osterle S; Wirta V; Sikora P; Lindstrand A; Nowak F; Amado I; Mulder NJ; Ganna A; Goodhand P; Smith LD; Marshall CR; Zawati M; Ferretti V; Michaud JL; Bulman D; Bernier F; Boycott KM
Article: CLINICAL GENETICS. 2025;108(2):199-205
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency
Stavren-Eriksson E; Hammarsjo A; Lindstrand A; Nordgren A; Grigelioniene G; Pigg MH
Article: FRONTIERS IN GENETICS. 2025;16:1580879
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting
Malmgren H; Kvarnung M; Gustafsson P; Anderlid B-M; Arthur C; Carlsten J; De Geer K; Ehn E; Grigelioniene G; Hammarsjo A; Helgadottir HT; Hellstrom-Pigg M; Iwarsson E; Kuchinskaya E; Lindelof H; Mannila M; Nilsson D; Pettersson M; Rudd E; Sahlin E; Tesi B; Tham E; Thonberg H; Westenius E; Winberg J; Winerdal M; Nordenskjold M; Johansson-Soller M; Wirta V; Nordgren A; Lindstrand A; Lagerstedt-Robinson K
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;:1-10
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
Lindelof H; Hammarsjo A; Voss U; Piticchio SG; Conner P; Papadogiannakis N; Batkovskyte D; Orellana L; Kvarnung M; Malmgren H; Robinson KL; Nordgren A; Lindstrand A; Nishimura G; Grigelioniene G
Article: ACTA OPHTHALMOLOGICA. 2025;103(3):327-338
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease
De Geer K; Lofgren S; Lindstrand A; Kvarnung M; Bjorck E
Article: EPILEPSIA. 2025;66(8):2966-2979
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals
Henry OJ; Ygberg S; Barbaro M; Lesko N; Karlsson L; Pena-Perez L; Bavner A; Tohonen V; Lindstrand A; Stodberg T; Wedell A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2025;197(3):e63935
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
Batkovskyte D; Swolin-Eide D; Hammarsjo A; Saether KB; Thunstrom S; Lundin J; Eisfeldt J; Lindstrand A; Nordgren A; Astrom E; Grigelioniene G
Article: NEUROLOGY-GENETICS. 2025;11(1):e200238
Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder
Verrecchia L; Alm V; Thonberg H; Lenner F; Paivandy A; Feuk L; Lindstrand A; Nilsson D; Paucar M
Article: SCIENTIFIC REPORTS. 2025;15(1):2912
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
Ehn E; Eisfeldt J; Laffita-Mesa JM; Thonberg H; Schoumans J; Portaankorva AM; Viitanen M; Lindstrand A; Nennesemo I; Graff C
Journal article: GENETICS IN MEDICINE OPEN. 2025;3:102295
P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene
Pande S; Grochowski C; Pehlivan D; Kaur P; Dardas Z; Du H; Rose C; Wincent J; Jhangiani S; Potocki L; Hastings P; Posey J; Lindstrand A; Carvalho C; Lupski J
Journal article: METHODS IN MOLECULAR BIOLOGY. 2025;2968:151-159
Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements.
Lindstrand A; Eisfeldt J
Article: GENOME MEDICINE. 2024;16(1):146
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Pehlivan D; Bengtsson JD; Bajikar SS; Grochowski CM; Lun MY; Gandhi M; Jolly A; Trostle AJ; Harris HK; Suter B; Aras S; Ramocki MB; Du H; Mehaffey MG; Park K; Wilkey E; Karakas C; Eisfeldt JJ; Pettersson M; Liu L; Shinawi MS; Kimonis VE; Wiszniewski W; Mckenzie K; Roser T; Vianna-Morgante AM; Cornier AS; Abdelmoity A; Hwang JP; Jhangiani SN; Muzny DM; Mitani T; Muramatsu K; Nabatame S; Glaze DG; Fatih JM; Gibbs RA; Liu Z; Lindstrand A; Sedlazeck FJ; Lupski JR; Zoghbi HY; Carvalho CMB
Article: SCIENTIFIC REPORTS. 2024;14(1):30343
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
Ek M; Kvarnung M; Pettersson M; Soller MJ; Anderlid B-M; Thonberg H; Eisfeldt J; Lindstrand A
Article: GENOME RESEARCH. 2024;34(11):1774-1784
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Eisfeldt J; Ameur A; Lenner F; Ten Berk de Boer E; Ek M; Wincent J; Vaz R; Ottosson J; Jonson T; Ivarsson S; Thunstroem S; Topa A; Stenberg S; Rohlin A; Sandestig A; Nordling M; Palmeback P; Burstedt M; Nordin F; Stattin E-L; Sobol M; Baliakas P; Bondeson M-L; Hoijer I; Saether KB; Lovmar L; Ehrencrona H; Melin M; Feuk L; Lindstrand A
Article: GENOME RESEARCH. 2024;34(11):1785-1797
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
Bilgrav Saether K; Eisfeldt J; Bengtsson JD; Lun MY; Grochowski CM; Mahmoud M; Chao H-T; Rosenfeld JA; Liu P; Ek M; Schuy J; Ameur A; Dai H; Hwang JP; Sedlazeck FJ; Bi W; Marom R; Wincent J; Nordgren A; Carvalho CMB; Lindstrand A
Article: GENOME RESEARCH. 2024;34(11):1763-1773
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Eisfeldt J; Higginbotham EJ; Lenner F; Howe J; Fernandez BA; Lindstrand A; Scherer SW; Feuk L
Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2024;103(8):1564-1569
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing
Wincent J; Helgadottir HT; Sergouniotis F; Mantero AS; Carvalho CMB; Malmgren H; Lindstrand A; Iwarsson E
Article: CELL GENOMICS. 2024;4(7):100590
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
Grochowski CM; Bengtsson JD; Du H; Gandhi M; Lun MY; Mehaffey MG; Park K; Hoeps W; Benito E; Hasenfeld P; Korbel JO; Mahmoud M; Paulin LF; Jhangiani SN; Hwang JP; Bhamidipati SV; Muzny DM; Fatih JM; Gibbs RA; Pendleton M; Harrington E; Juul S; Lindstrand A; Sedlazeck FJ; Pehlivan D; Lupski JR; Carvalho CMB
Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024;63(5):658-663
Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting
Westenius E; Conner P; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
Article: SCIENTIFIC REPORTS. 2024;14(1):9000
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
ten Berk de Boer E; Ameur A; Bunikis I; Ek M; Stattin E-L; Feuk L; Eisfeldt J; Lindstrand A
Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
Pechhacker MKG; Molnar A; Pekkola Pacheco N; Thonberg H; Querat L; Birkeldh U; Nordgren A; Lindstrand A
Journal article: GENETICS IN MEDICINE OPEN. 2024;2:101863
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Schuy J; Sæther KB; Lisfeld J; Ek M; Grochowski CM; Lun MY; Hastie A; Rudolph S; Fuchs S; Neveling K; Hempel M; Hoischen A; Pettersson M; Carvalho CMB; Eisfeldt J; Lindstrand A
Article: GENETICS IN MEDICINE OPEN. 2024;2:101863
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Schuy J; Sæther KB; Lisfeld J; Ek M; Grochowski CM; Lun MY; Hastie A; Rudolph S; Fuchs S; Neveling K; Hempel M; Hoischen A; Pettersson M; Carvalho CMB; Eisfeldt J; Lindstrand A
Journal article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2023;62:159
Whole-genome sequencing for prenatal diagnosis of congenital malformations: a prospective cohort study in a clinical setting
Conner P; Westenius E; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
Article: BMC OPHTHALMOLOGY. 2023;23(1):394
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
De Geer K; Mascianica K; Naess K; Sardh E; Lindstrand A; Bjoerck E
Article: PLOS ONE. 2023;18(7):e0289346
Transposable element insertions in 1000 Swedish individuals
Saether KB; Nilsson D; Thonberg H; Tham E; Ameur A; Eisfeldt J; Lindstrand A
Article: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish
Vaz R; Edwards S; Duenas-Rey A; Hofmeister W; Lindstrand A
Article: JOURNAL OF INTERNAL MEDICINE. 2023;294(1):96-109
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies
Aranda-Guillen M; Royrvik EC; Fletcher-Sandersjoo S; Artaza H; Botusan IR; Grytaas MA; Hallgren A; Breivik L; Pettersson M; Jorgensen AP; Lindstrand A; Vogt E; Husebye ES; Kampe O; Wolff ASB; Bensing S; Johansson S; Eriksson D
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63
Pacheco NP; Pettersson M; Lindstrand A; Grigelioniene G
Article: FRONTIERS IN GENETICS. 2023;14:1174046
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
Flores AG; Nordgren I; Pettersson M; Dias-Santagata D; Nilsson D; Hammarsjo A; Lindstrand A; Batkovskyte D; Wiggs J; Walton DS; Goldenberg P; Eisfeldt J; Lin AE; Lachman RS; Nishimura G; Grigelioniene G
Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Article: SCIENTIFIC REPORTS. 2023;13(1):6904
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
Runheim H; Pettersson M; Hammarsjo A; Nordgren A; Henriksson M; Lindstrand A; Levin L-A; Soller MJ
Journal article: PATHOLOGY. 2023;55:s17
Implementing WGS-based rare inherited disease diagnostics in the Stockholm healthcare region
Lindstrand A
Journal article: PATHOLOGY. 2023;55:s19-s20
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: BIOMEDICINES. 2022;10(12):3171
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy
Vaz R; Wincent J; Elfissi N; Rosengren Forsblad K; Pettersson M; Naess K; Wedell A; Wredenberg A; Lindstrand A; Ygberg S
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: HUMAN MUTATION. 2022;43(11):1567-1575
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
Eisfeldt J; Rezayee F; Pettersson M; Lagerstedt K; Malmgren H; Falk A; Grigelioniene G; Lindstrand A
Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):487-493
Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting
Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
Article: BLOOD ADVANCES. 2022;6(17):5009-5023
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
Pena-Perez L; Frengen N; Hauenstein J; Gran C; Gustafsson C; Eisfeldt J; Kierczak M; Taborsak-Lines F; Olsen R-A; Wallblom A; Krstic A; Ewels P; Lindstrand A; Mansson R
Article: SEMINARS IN CANCER BIOLOGY. 2022;84:242-254
Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany
Stenzinger A; Edsjoe A; Ploeger C; Friedman M; Frohling S; Wirta V; Seufferlein T; Botling J; Duyster J; Akhras M; Thimme R; Fioretos T; Bitzer M; Cavelier L; Schirmacher P; Malek N; Rosenquist R
Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022;23(16):9392
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
Eisfeldt J; Schuy J; Stattin E-L; Kvarnung M; Falk A; Feuk L; Lindstrand A
Article: HUMAN MUTATION. 2022;43(6):708-716
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Article: FRONTIERS IN GENETICS. 2022;13:839349
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
Loid P; Pekkinen M; Mustila T; Tossavainen P; Viljakainen H; Lindstrand A; Maekitie O
Article: FRONTIERS IN GENETICS. 2022;12:803683
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Moslem M; Nilsson D; Dahl N; Shahsavani M; Falk A; Lindstrand A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(1):104402
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
de Boer E; Yaldiz B; Denomme-Pichon A-S; Matalonga L; Laurie S; Steyaert W; de Reuver R; Gilissen C; Kwint M; Pfundt R; Verloes A; Willemsen MAAP; de Vries BBA; Vitobello A; Kleefstra T; Vissers LELM
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355
A missense mutation converts the Na⁺,K⁺-ATPase into an ion channel and causes therapy-resistant epilepsy
Ygberg S; Akkuratov EE; Howard RJ; Taylan F; Jans DC; Mahato DR; Katz A; Kinoshita PF; Portal B; Nennesmo I; Lindskog M; Karlish SJD; Andersson M; Lindstrand A; Brismar H; Aperia A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(12):3593-3600
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Zhang C; Mazzeu JF; Eisfeldt J; Grochowski CM; White J; Akdemir ZC; Jhangiani SN; Muzny DM; Gibbs RA; Lindstrand A; Lupski JR; Sutton VR; Carvalho CMB
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1359-1368
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
de Boer E; Ockeloen CW; Matalonga L; Horvath R; Rodenburg RJ; Coenen MJH; Janssen M; Henssen D; Gilissen C; Steyaert W; Paramonov I; Trimouille A; Kleefstra T; Verloes A; Vissers LELM
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1337-1347
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Matalonga L; Hernandez-Ferrer C; Piscia D; Schuele R; Synofzik M; Topf A; Vissers LELM; de Voer R; Tonda R; Laurie S; Fernandez-Callejo M; Pico D; Garcia-Linares C; Papakonstantinou A; Corvo A; Joshi R; Diez H; Gut I; Hoischen A; Graessner H; Beltran S
Article: FRONTIERS IN GENETICS. 2021;12:708348
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome
Grochowski CM; Krepischi ACV; Eisfeldt J; Du H; Bertola DR; Oliveira D; Costa SS; Lupski JR; Lindstrand A; Carvalho CMB
Article: GENETICS IN MEDICINE. 2021;23(5):888-899
DLG4-related synaptopathy: a new rare brain disorder
Rodriguez-Palmero A; Boerrigter MM; Gomez-Andres D; Aldinger KA; Marcos-Alcalde I; Popp B; Everman DB; Lovgren AK; Arpin S; Bahrambeigi V; Beunders G; Bisgaard A-M; Bjerregaard VA; Bruel A-L; Challman TD; Cogne B; Coubes C; de Man SA; Denomme-Pichon A-S; Dye TJ; Elmslie F; Feuk L; Garcia-Minaur S; Gertler T; Giorgio E; Gruchy N; Haack TB; Haldeman-Englert CR; Haukanes BI; Hoyer J; Hurst ACE; Isidor B; Soller MJ; Kushary S; Kvarnung M; Landau YE; Leppig KA; Lindstrand A; Kleinendorst L; MacKenzie A; Mandrile G; Mendelsohn BA; Moghadasi S; Morton JE; Moutton S; Mueller AJ; O'Leary M; Pacio-Miguez M; Palomares-Bralo M; Parikh S; Pfundt R; Pode-Shakked B; Rauch A; Repnikova E; Revah-Politi A; Ross MJ; Ruivenkamp CAL; Sarrazin E; Savatt JM; Schlueter A; Schoenewolf-Greulich B; Shad Z; Shaw-Smith C; Shieh JT; Shohat M; Spranger S; Thiese H; Mau-Them FT; van Bon B; van de Burgt I; van de Laar IMBH; van Drie E; van Haelst MM; van Ravenswaaij-Arts CM; Verdura E; Vitobello A; Waldmueller S; Whiting S; Zweier C; Prada CE; de Vries BBA; Dobyns WB; Reiter SF; Gomez-Puertas P; Pujol A; Tumer Z
Article: HUMAN GENETICS. 2021;140(5):775-790
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
Eisfeldt J; Pettersson M; Petri A; Nilsson D; Feuk L; Lindstrand A
Article: GENOME MEDICINE. 2021;13(1):63
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Article: GENOME MEDICINE. 2021;13(1):40
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Stevenson RE; Ha T; Cavalcanti DP; Miyahara H; Skinner SA; Aguirre MA; Akcoeren Z; Utine GE; Chiu T; Shimizu K; Hammarsjoe A; Boduroglu K; Moore HW; Louie RJ; Arts P; Merrihew AN; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Article: HUMAN MUTATION. 2020;41(11):1979-1998
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Breman AM; Cheung SW; Krepischi ACV; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
Article: NATURE COMMUNICATIONS. 2020;11(1):4932
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Dalla Bernardina B; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Article: BMC BIOINFORMATICS. 2020;21(1):273
Loqusdb: added value of an observations database of local genomic variation
Magnusson M; Eisfeldt J; Nilsson D; Rosenbaum A; Wirta V; Lindstrand A; Wedell A; Stranneheim H
Article: BMC MEDICAL GENETICS. 2020;21(1):87
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Bieder A; Einarsdottir E; Matsson H; Nilsson HE; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Paez I
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1143-1151
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T
Article: PLOS ONE. 2020;15(2):e0228622
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Dahl S; Pettersson M; Eisfeldt J; Schroder AK; Wickstrom R; Fahnehjelm KT; Anderlid B-M; Lindstrand A
Article: MOLECULAR BIOLOGY AND EVOLUTION. 2020;37(1):18-30
Discovery of Novel Sequences in 1,000 Swedish Genomes
Eisfeldt J; Martensson G; Ameur A; Nilsson D; Lindstrand A
Article: CLINICAL GENETICS. 2019;96(6):560-565
Meckel syndrome: Clinical and mutation profile in six fetuses
Radhakrishnan P; Nayak SS; Shukla A; Lindstrand A; Girisha KM
Article: GENOME MEDICINE. 2019;11(1):68
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: FRONTIERS IN GENETICS. 2019;10:896
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
Kvarnung M; Shahsavani M; Taylan F; Moslem M; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B-M; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Article: SCIENCE ADVANCES. 2019;5(9):eaax2166
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo H; Li Y; Shen L; Wang T; Jia X; Liu L; Xu T; Ou M; Hoekzema K; Wu H; Gillentine MA; Liu C; Ni H; Peng P; Zhao R; Zhang Y; Phornphutkul C; Stegmann APA; Prada CE; Hopkin RJ; Shieh JT; McWalter K; Monaghan KG; van Hasselt PM; van Gassen K; Bai T; Long M; Han L; Quan Y; Chen M; Zhang Y; Li K; Zhang Q; Tan J; Zhu T; Liu Y; Pang N; Peng J; Scott DA; Lalani SR; Azamian M; Mancini GMS; Adams DJ; Kvarnung M; Lindstrand A; Nordgren A; Pevsner J; Osei-Owusu IA; Romano C; Calabrese G; Galesi O; Gecz J; Haan E; Ranells J; Racobaldo M; Nordenskjold M; Madan-Khetarpal S; Sebastian J; Ball S; Zou X; Zhao J; Hu Z; Xia F; Liu P; Rosenfeld JA; de Vries BBA; Bernier RA; Xu Z-QD; Li H; Xie W; Hufnagel RB; Eichler EE; Xia K
Article: CLINICAL GENETICS. 2019;96(2):118-125
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Article: FRONTIERS IN GENETICS. 2019;10:608
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy
Kiselev A; Vaz R; Knyazeva A; Sergushichev A; Dmitrieva R; Khudiakov A; Jorholt J; Smolina N; Sukhareva K; Fomicheva Y; Mikhaylov E; Mitrofanova L; Predeusu A; Sjoberg G; Rudenko D; Sejersen T; Lindstrand A; Kostareva A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Lundin J; Markljung E; Korberg IB; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojevic V; Lindstrand A; Nordenskjold A
Article: NATURE MEDICINE. 2019;25(4):583-590
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjo A; Marsk E; Nordgren A; Nordenskjold M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Cogne B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjold M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla OL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk OL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Akdemir ZHC; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denomme-Pichon A-S; Ferec C; Yang X-J; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bezieau S; Kury S; Campeau PM
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; Kvarnung M; Kleefstra T; de Vries BBA; Kury S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF; Bakshi M; Wilson M; Berman Y; Dickson R; Fransen E; Helsmoortel C; Van den Ende J; Van der Aa N; van de Wijdeven MJ; Rosenblum J; Monteiro F; Kok F; Quercia N; Bowdin S; Dyment D; Chitayat D; Alkhunaizi E; Boonen SE; Keren B; Jacquette A; Faivre L; Bezieau S; Isidor B; Riess A; Moog U; Lynch SA; McVeigh T; Elpeleg O; Smeland MF; Fannemel M; van Haeringen A; Maas SM; Veenstra-Knol HE; Schouten M; Willemsen MH; Marcelis CL; Ockeloen C; van der Burgt I; Feenstra I; van der Smagt J; Jezela-Stanek A; Krajewska-Walasek M; Gonzalez-Lamuno D; Anderlid B-M; Malmgren H; Nordenskjold M; Clement E; Hurst J; Metcalfe K; Mansour S; Lachlan K; Clayton-Smith J; Hendon LG; Abdulrahman OA; Morrow E; McMillan C; Gerdts J; Peeden J; Vergano SAS; Valentino C; Chung WK; Ozmore JR; Bedrosian-Sermone S; Dennis A; Treat K; Hughes SS; Safina N; Le Pichon J-B; McGuire M; Infante E; Madan-Khetarpal S; Desai S; Benke P; Krokosky A; Cristian I; Baker L; Gripp K; Stessman HA; Eichenberger J; Jayakar P; Pizzino A; Manning MA; Slattery L
Article: PLOS GENETICS. 2019;15(2):e1007858
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements
Eisfeldt J; Pettersson M; Vezzi F; Wincent J; Kaeller M; Gruselius J; Nilsson D; Lundberg ES; Carvalho CMB; Lindstrand A
Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis
Pettersson M; Eisfeldt J; Lundberg ES; Lundin J; Lindstrand A
Article: PLOS GENETICS. 2018;14(11):e1007780
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Article: HUMAN MUTATION. 2018;39(10):1456-1467
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson M; Vaz R; Hammarsjo A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
Article: HUMAN MUTATION. 2018;39(9):1161-1172
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy
Kiselev A; Vaz R; Knyazeva A; Khudiakov A; Tarnovskaya S; Liu J; Sergushichev A; Kazakov S; Frishman D; Smolina N; Pervunina T; Jorholt J; Sjoberg G; Vershinina T; Rudenko D; Arner A; Sejersen T; Lindstrand A; Kostareva A
Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Costantini A; Skarp S; Kampe A; Makitie RE; Pettersson M; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
Article: HUMAN MUTATION. 2018;39(7):939-946
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes
Grochowski CM; Gu S; Yuan B; Tcw J; Brennand KJ; Sebat J; Malhotra D; McCarthy S; Rudolph U; Lindstrand A; Chong Z; Levy DL; Lupski JR; Carvalho CMB
Article: HUMAN MUTATION. 2018;39(4):495-505
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish
Hofmeister W; Pettersson M; Kurtoglu D; Armenio M; Eisfeldt J; Papadogiannakis N; Gustavsson P; Lindstrand A
Article: PLOS ONE. 2018;13(3):e0189710
AMYCNE: Confident copy number assessment using whole genome sequencing data
Eisfeldt J; Nilsson D; Andersson-Assarsson JC; Lindstrand A
Article: PLOS ONE. 2018;13(3):e0193928
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing
Anh NT; Taylan F; Zachariadis V; Ofverholm II; Lindstrand A; Vezzi F; Lotstedt B; Nordenskjold M; Nordgren A; Nilsson D; Barbany G
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(12):2394-2404
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
Article: SCIENTIFIC REPORTS. 2017;7(1):15585
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjo A; Wang Z; Vaz R; Taylan F; Sedghi M; Girisha KM; Chitayat D; Neethukrishna K; Shannon P; Godoy R; Gowrishankar K; Lindstrand A; Nasiri J; Baktashian M; Newton PT; Guo L; Hofmeister W; Pettersson M; Chagin AS; Nishimura G; Yan L; Matsumoto N; Nordgren A; Miyake N; Grigelioniene G; Ikegawa S
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Makitie O; Lindstrand A
Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker MR; Heymann G; Wang T; Coe BP; Turner TN; Stessman HAF; Hoekzema K; Kvarnung M; Shaw M; Friend K; Liebelt J; Barnett C; Thompson EM; Haan E; Guo H; Anderlid B-M; Nordgren A; Lindstrand A; Vandeweyer G; Alberti A; Avola E; Vinci M; Giusto S; Pramparo T; Pierce K; Nalabolu S; Michaelson JJ; Sedlacek Z; Santen GWE; Peeters H; Hakonarson H; Courchesne E; Romano C; Kooy RF; Bernier RA; Nordenskjold M; Gecz J; Xia K; Zweifel LS; Eichler EE
Journal article: F1000 PRIME REPORTS. 2017;6:664
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data
Eisfeldt J; Vezzi F; Olason P; Nilsson D; Lindstrand A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(5):1396-1399
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid B-M; Nordgren A; Lindstrand A
Article: NATURE GENETICS. 2017;49(4):515-526
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman HAF; Xiong B; Coe BP; Wang T; Hoekzema K; Fenckova M; Kvarnung M; Gerdts J; Trinh S; Cosemans N; Vives L; Lin J; Turner TN; Santen G; Ruivenkamp C; Kriek M; van Haeringen A; Aten E; Friend K; Liebelt J; Barnett C; Haan E; Shaw M; Gecz J; Anderlid B-M; Nordgren A; Lindstrand A; Schwartz C; Kooy RF; Vandeweyer G; Helsmoortel C; Romano C; Alberti A; Vinci M; Avola E; Giusto S; Courchesne E; Pramparo T; Pierce K; Nalabolu S; Amaral DG; Scheffer IE; Delatycki MB; Lockhart PJ; Hormozdiari F; Harich B; Castells-Nobau A; Xia K; Peeters H; Nordenskjold M; Schenck A; Bernier RA; Eichler EE
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gs Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler M-L; Makitie O; Juppner H
Article: HUMAN MUTATION. 2017;38(2):180-192
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: HUMAN GENETICS. 2017;136(2):179-192
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig NC; Luedecke H-J; Pettersson M; Albrecht B; Bernier RA; Cremer K; Eichler EE; Falkenstein D; Gerdts J; Jansen S; Kuechler A; Kvarnung M; Lindstrand A; Nilsson D; Nordgren A; Pfundt R; Spruijt L; Surowy HM; de Vries BBA; Wieland T; Engels H; Strom TM; Kleefstra T; Wieczorek D
Article: F1000RESEARCH. 2017;6:664
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.
Eisfeldt J; Vezzi F; Olason P; Nilsson D; Lindstrand A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Kapferer-Seebacher I; Pepin M; Werner R; Aitman TJ; Nordgren A; Stoiber H; Thielens N; Gaboriaud C; Amberger A; Schossig A; Gruber R; Giunta C; Bamshad M; Bjorck E; Chen C; Chitayat D; Dorschner M; Schmitt-Egenolf M; Hale CJ; Hanna D; Hennies HC; Heiss-Kisielewsky I; Lindstrand A; Lundberg P; Mitchell AL; Nickerson DA; Reinstein E; Rohrbach M; Romani N; Schmuth M; Silver R; Taylan F; Vandersteen A; Vandrovcova J; Weerakkody R; Yang M; Pope FM; Byers PH; Zschocke J
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(2):318-336
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand A; Frangakis S; Carvalho CMB; Richardson EB; McFadden KA; Willer JR; Pehlivan D; Liu P; Pediaditakis IL; Sabo A; Lewis RA; Banin E; Lupski JR; Davis EE; Katsanis N
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E; Eklund EA; Hammarsjo A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albage M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish
Korberg IB; Hofmeister W; Markljung E; Cao J; Nilsson D; Ludwig M; Draaken M; Holmdahl G; Barker G; Reutter H; Vukojevic V; Kockum CC; Lundin J; Lindstrand A; Nordenskjold A
Article: PLOS ONE. 2015;10(7):e0131883
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
Viljakainen H; Andersson-Assarsson JC; Armenio M; Pekkinen M; Pettersson M; Valta H; Lipsanen-Nyman M; Makitie O; Lindstrand A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
Tham E; Lindstrand A; Santani A; Malmgren H; Nesbitt A; Dubbs HA; Zackai EH; Parker MJ; Millan F; Rosenbaum K; Wilson GN; Nordgren A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
CTNND2-a candidate gene for reading problems and mild intellectual disability
Hofmeister W; Nilsson D; Topa A; Anderlid B-M; Darki F; Matsson H; Paez IT; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjold M; Lundberg ES; Lindstrand A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Anneren G; Arner M; Pettersson M; Jantti N; Rosberg H-E; Cattini PA; Nordenskjold A; Makitie O; Grigelioniene G; Nordgren A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;94(5):745-754
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
Lindstrand A; Davis EE; Carvalho CMB; Pehlivan D; Willer JR; Tsai I-C; Ramanathan S; Zuppan C; Sabo A; Muzny D; Gibbs R; Liu P; Lewis RA; Banin E; Lupski JR; Clark R; Katsanis N
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;93(2):357-367
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Hjeij R; Lindstrand A; Francis R; Zariwala MA; Liu X; Li Y; Damerla R; Dougherty GW; Abouhamed M; Olbrich H; Loges NT; Pennekamp P; Davis EE; Carvalho CMB; Pehlivan D; Werner C; Raidt J; Koehler G; Haeffner K; Reyes-Mugica M; Lupski JR; Leigh MW; Rosenfeld M; Morgan LC; Knowles MR; Lo CW; Katsanis N; Omranl H
Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
Article: CELL. 2012;150(3):533-548
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Chaki M; Airik R; Ghosh AK; Giles RH; Chen R; Slaats GG; Wang H; Hurd TW; Zhou W; Cluckey A; Gee HY; Ramaswami G; Hong C-J; Hamilton BA; Cervenka I; Ganji RS; Bryja V; Arts HH; van Reeuwijk J; Oud MM; Letteboer SJF; Roepman R; Husson H; Ibraghimov-Beskrovnaya O; Yasunaga T; Walz G; Eley L; Sayer JA; Schermer B; Liebau MC; Benzing T; Le Corre S; Drummond I; Janssen S; Allen SJ; Natarajan S; O'Toole JF; Attanasio M; Saunier S; Antignac C; Koenekoop RK; Ren H; Lopez I; Nayir A; Stoetzel C; Dollfus H; Massoudi R; Gleeson JG; Andreoli SP; Doherty DG; Lindstrad A; Golzio C; Katsanis N; Pape L; Abboud EB; Al-Rajhi AA; Lewis RA; Omran H; Lee EY-HP; Wang S; Sekiguchi JM; Saunders R; Johnson CA; Garner E; Vanselow K; Andersen JS; Shlomai J; Nurnberg G; Nurnberg P; Levy S; Smogorzewska A; Otto EA; Hildebrandt F
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(5):1111-1117
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype
Kvarnung M; Lindstrand A; Malmgren H; Thastrom A; Jacobson L; Dahl N; Lundin J; Blennow E
Article: CLINICAL GENETICS. 2010;77(6):552-562
Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
Lindstrand A; Schoumans J; Gustavsson P; Hanemaaijer N; Malmgren H; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(5):1233-1243
Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions
Lindstrand A; Malmgren H; Verri A; Benetti E; Eriksson M; Nordgren A; Anderlid B-M; Golovleva I; Schoumans J; Blennow E
Article: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Bruno DL; Anderlid B-M; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgstrom B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BBA; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
Article: CLINICAL GENETICS. 2010;77(2):145-154
Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand A; Malmgren H; Sahlen S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
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Preprint: MEDRXIV. 2025;MEDRXIV
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon.
Lun MY; Posey JE; Bengtsson JD; Du H; Roy RS; Yang L; Ochoa S; Yuan B; Gillentine M; Lindstrand A; Carvalho CMB
Editorial comment: VACCINES. 2025;13(6):649
Expanded Programme on Immunization (EPI): A Legacy of 50 Years and the Road Ahead
Mirza I; Lemango ET; Lindstrand A
Letter: NATURE MEDICINE. 2025;31(6):1730-1732
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Kampe A; Gudmundsson S; Walsh CP; Lindblad-Toh K; Johansson A; Clareborn A; Ameur A; Edsjo A; Fioretos T; Ehrencrona H; Eriksson D; Fall T; Franks PW; Gyllensten U; Haag M; Hagwall A; Johansson Soller M; Lehtio J; Lu Y; Magnusson PKE; Melen E; Melin B; Michaelsson K; Nordgren A; Nordlund J; Saal LH; Schwenk JM; Sikora P; Sundstrom J; Taylan F; Van Guelpen B; Wadelius M; Wedell A; Wirta V; Ostling P; Jacobsson B; Sjoblom T; Persson B; Rosenquist R; Lindstrand A; Lappalainen T
Review: NATURE GENETICS. 2025;57(6):1334-1343
Toward clinical long-read genome sequencing for rare diseases
Eisfeldt J; Ek M; Nordenskjoeld M; Lindstrand A
Corrigendum: SCIENTIFIC REPORTS. 2025;15(1):10121
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease (vol 15, 2912, 2025)
Ehn E; Eisfeldt J; Laffita-Mesa JM; Thonberg H; Schoumans J; Portaankorva AM; Viitanen M; Lindstrand A; Nennesmo I; Graff C
Conference publication: GENETICS IN MEDICINE OPEN. 2025;3:101928
11: To remap or not to remap: the relevance of the genome references to resolve rare inversions
Carvalho CMB; Saether KB; Bengtsson J; Eisfeldt J; Lun MY; Schuy J; Mahmoud M; Grochowski CM; Pehlivan D; Sedlazeck FJ; Rosenfeld JA; Liu P; Bi W; Marom R; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1779-1780
Clinical utility of PacBio HiFi sequencing on Revio
Betz C; Bolz H; Spielmann M; Feuk L; Lindstrand A; Herzog K; Zschocke J; Gilissen C; Vissers L; Hoischen A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1572
Mind the reference gap
Saether KB; Carvalho C; Schuy J; Ameur A; Nordgren A; Eisfeldt J; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1610-1611
Flexible and rapid validation of structural variation using nanopore adaptive sequencing
Paivandy A; Lenner F; Jonson T; Ehrencrona H; Lindstrand A; Howe J; Scherer S; Feuk L
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1645
Implementation of RNA-seq analysis in patients with rare diseases
Pena-Perez L; Jemt A; Thonberg H; Eisfeldt J; Stranneheim H; Wedell A; Lindstrand A; Wirta V
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1154
Mapping the Swedish methylome using ONT promethION long-read genome sequencing
Eisfeldt J; Saether KB; de Boer ETB; Ek M; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1310-1311
Whole genome sequencing in prenatally detected congenital malformations
Westenius E; Conner P; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1461-1462
Transcriptional study of early neural development in iPSCs-derived from Williams-Beuren Syndrome patients
de Boer ETB; Shahsavani M; Eisfeldt J; Nordgren A; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:810
Multiomics and deep phenotyping in MECP2 Duplication Syndrome: Insight into disease severity, expression variability, and nucleic acid therapeutics
Pehlivan D; Bentsson J; Bajikar S; Grochowski CM; Lun MY; Gandhi M; Jolly A; Harris H; Suter B; Aras S; Ramocki M; Du H; Wilkey E; Karakas C; Eisfeldt J; Pettersson M; Jhangiani S; Liu L; Shinawi M; Kimonis V; Wiszniewski W; Mckenzie K; Roser T; Morgante A; Cornier A; Abdelmoity A; Muzny D; Mitani T; Muramatsu K; Nabatame S; Glaze D; Fatih J; Gibbs R; Liu Z; Lindstrand A; Sedlazeck F; Lupski J; Zoghbi HY; Carvalho C
Editorial comment: NATURE GENETICS. 2024;56(11):2287-2294
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Saether KB; Hoijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjo A; Hammond CK; Ng OH; Hesketh S; Hettiarachchi D; Soller MJ; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Wiklander ML; Makay P; Maiga AB; Maya-Gonzalez C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjo S; Ottosson J; Ozbek U; Ozdemir O; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; de la Paz MP; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin E-L; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tumer Z; van Zelst-Stams WAG; Verloes A; Vasterviga E; Wang S; Yang R; Yamamoto S; Yepez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V; Lindstrand A; Buske OJ; Cederroth M; Nordgren A
Conference publication: EPILEPSIA. 2024;65:477-478
Implementation of clinical whole genome sequencing in paediatric epilepsy
Henry OJ; Ygberg S; Barbaro M; Lesko N; Karlsson L; Pena-Perez L; Bergquist AB; Tohonen V; Stranneheim H; Lindstrand A; Stodberg T; Wedell A
Preprint: BIORXIV. 2024
Intrinsic Heterogeneity of Primary Cilia Revealed Through Spatial Proteomics
Hansen J; Sun H; Kahnert K; Westenius E; Johannesson A; Villegas C; Le T; Tzavlaki K; Winsnes C; Pohjanen E; Mäkiniemi A; Fall J; Navarro FB; Bäckström A; Lindskog C; Johansson F; von Feilitzen K; Delgado-Vega A; Casals AM; Mahdessian D; Uhlén M; Sheu S-H; Lindstrand A; Axelsson U; Lundberg E
Conference publication: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024;64 Suppl 1:289-290
Abstracts of the 34th World Congress on Ultrasound in Obstetrics and Gynecology, 15-18 September 2024, Budapest, Hungary.
Conner P; Westenius E; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
Preprint: MEDRXIV. 2024;MEDRXIV
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K; Eisfeldt J; Bengtsson J; Lun MY; Grochowski CM; Mahmoud M; Chao H-T; Rosenfeld JA; Liu P; Schuy J; Ameur A; Undiagnosed Diseases Network; Hwang JP; Sedlazeck FJ; Bi W; Marom R; Nordgren A; Carvalho CMB; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with neuromuscular disorders
Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir H; Arnardottir S; Naess K; Nennesemo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:606
Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21
Schuy J; Saether KB; Lisfeld J; Ek M; Grochowski CM; Rudolph S; Fuchs S; Neveling K; Hempel M; Hoischen A; Hastie A; Carvalho C; Eisfeldt J; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:603-604
Resolving ring chromosomes with long read sequencing
Saether KB; Ek M; Lindstrand A; Eisfeldt J
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:629
Clinical validation of RNA-seq to complement whole-genome sequencing
Carlsten J; Thonberg H; de Boer ETB; Jemt A; Eisfeldt J; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:472-473
Multiomic profiling unravels disease mechanisms in complex chromosomal rearrangement carriers with autism spectrum disorder
Eisfeldt J; Higginbotham T; Lindstrand A; Scherer S; Feuk L
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:539
In trans reciprocal deletion and duplication of the NXN gene causing Robinow syndrome escaping routine diagnostic testing
Berland S; Bratland E; Hjertnes L; Baroy T; Lindstrand A; Carvalho C
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:689
A single centre experience of personalised functional studies in rare diseases
Vaz R; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1779-1780
Clinical utility of PacBio HiFi sequencing on Revio
Betz C; Bolz H; Spielmann M; Feuk L; Lindstrand A; Herzog K; Zschocke J; Gilissen C; Vissers L; Hoischen A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1645
Implementation of RNA-seq analysis in patients with rare diseases
Pena-Perez L; Jemt A; Thonberg H; Eisfeldt J; Stranneheim H; Wedell A; Lindstrand A; Wirta V
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1610-1611
Flexible and rapid validation of structural variation using nanopore adaptive sequencing
Paivandy A; Lenner F; Jonson T; Ehrencrona H; Lindstrand A; Howe J; Scherer S; Feuk L
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1154
Mapping the Swedish methylome using ONT promethION long-read genome sequencing
Eisfeldt J; Saether KB; de Boer ETB; Ek M; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1461-1462
Transcriptional study of early neural development in iPSCs-derived from Williams-Beuren Syndrome patients
de Boer ETB; Shahsavani M; Eisfeldt J; Nordgren A; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1310-1311
Whole genome sequencing in prenatally detected congenital malformations
Westenius E; Conner P; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:643
Blood transcriptome database to detect aberrant splicing in rare disease diagnostics
de Boer ETB; Thonberg H; Carlsten J; Jemt A; Eisfeldt J; Lindstrand A
Preprint: MEDRXIV. 2023
Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
Eisfeldt J; Ameur A; Lenner F; ten Berk de Boer E; Ek M; Wincent J; Vaz R; Ottosson J; Jonsson T; Ivarsson S; Thunstrom S; Topa A; Stenberg S; Rohlin A; Sandestig A; Nordling M; Palmebäck P; Burstedt M; Nordin F; Stattin E-L; Sobol M; Baliakas P; Bondeson M-L; Höijer I; Bilgrav Saether K; Lovmar L; Ehrencrona H; Melin M; Feuk L; Lindstrand A
Preprint: BIORXIV. 2023;BIORXIV
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.
Grochowski CM; Bengtsson JD; Du H; Gandhi M; Lun MY; Mehaffey MG; Park K; Höps W; Benito-Garagorri E; Hasenfeld P; Korbel JO; Mahmoud M; Paulin LF; Jhangiani SN; Muzny DM; Fatih JM; Gibbs RA; Pendleton M; Harrington E; Juul S; Lindstrand A; Sedlazeck FJ; Pehlivan D; Lupski JR; Carvalho CMB
Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
Precision medicine in rare diseases: What is next?
Tesi B; Boileau C; Boycott KM; Canaud G; Caulfield M; Choukair D; Hill S; Spielmann M; Wedell A; Wirta V; Nordgren A; Lindstrand A
Other: JOURNAL OF PEDIATRIC UROLOGY. 2023;19(3):335-338
Precision medicine and rare diseases in pediatric urology
Nordgren A; Lindstrand A; Wu H-Y; Fossum M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:348-349
SizeMatters: a novel algorithm for fetal-fraction estimation based on fragment-size distributions
Eisfeldt J; Holmgren C; Tirfing M; Lindstrand A; Iwarsson E; Lieden A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:646
Haplotype graph assembly using Swedish individuals
Saether KB; Lindstrand A; Eisfeldt J
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:48
High diagnostic yield using whole genome sequencing and an in silico gene panel of 281 genes associated with non-immune hydrops fetalis in a clinical setting
Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:632
Costs and diagnostic yield of whole genome sequencing in neurodevelopmental disorders
Soller M; Runheim H; Nordgren A; Petters-Son M; Hammarsjo A; Henriksson M; Levin L-A; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:469
A complex chromosome 21 rearrangement causes APP triplication and autosomal dominant early onset Alzheimer disease
Ehn E; Eisfeldt J; Thonberg H; Laffita J; Schoumans J; Remes A; Viitanen M; Lindstrand A; Nennesemo I; Graff C
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591
Implementation of genomic medicine in Stockholm healthcare region - update on first 10,000 samples
Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Lesko N; Nilsson D; Vonlanthen S; Eisfeldt J; Kvarnung M; Engvall M; Malmgren H; Anderlid B-M; Rasi C; Jemt A; Marits P; Soller MJ; Nordgren A; Wirta V; Wedell A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
Parental mosaicism is underestimated in rare intellectual disability syndromes
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:576-577
Multi-omics analysis of DNA and RNA identifies disruption of MINK1 in a balanced translocation carrier with congenital cataract and epilepsy
Eisfeldt J; Schuy J; Stattin E-L; Lindstrand A
Published conference paper: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:429
Missense variant in PDK1 associated with severe developmental delay and epilepsy
Vaz R; Wincent J; Elfissi N; Forsblad K; Pettersson M; Naess K; Wedell A; Wreden-Berg A; Lindstrand A; Ygberg S
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
Genome Sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Preprint: RESEARCH SQUARE. 2023
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
De Geer K; Mascianica K; Naess K; Sardh E; Lindstrand A; Björck E
Conference publication: PATHOLOGY. 2023;55:s19
Characterisation of structural chromosomal variants by short and long read sequencing of DNA and RNA
Lindstrand A
Review: CAMBRIDGE PRISMS: PRECISION MEDICINE. 2023;1:e15
Building a precision medicine infrastructure at a national level: The Swedish experience.
Edsjö A; Lindstrand A; Gisselsson D; Mölling P; Friedman M; Cavelier L; Johansson M; Ehrencrona H; Fagerqvist T; Strid T; Lovmar L; Jacobsson B; Johansson Å; Engstrand L; Wheelock CE; Sikora P; Wirta V; Fioretos T; Rosenquist R; Genomic Medicine Sweden (GMS)
Review: TRENDS IN GENETICS. 2022;38(11):1134-1146
Complex genomic rearrangements: an underestimated cause of rare diseases
Schuy J; Grochowski CM; Carvalho CMB; Lindstrand A
Other: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):586
Prenatal diagnosis of non-immune hydrops fetalis: whole-exome sequencing or whole-genome sequencing? Reply
Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
Conference publication: ANNALS OF NEUROLOGY. 2022;92:S171-S172
Advanced Molecular Studies Resolving the Genomic Structure in MECP2 Duplication Syndrome Informs the Genotype-Phenotype Correlations and Potential Interventions
Pehlivan D; Gandhi M; Grochowski CM; Bajikar SS; Harris HK; Suter B; Du H; Jhangiani SN; Muzny DM; Fatih JM; Mehaffey MG; Park K; Glaze DG; Gibbs RA; Lindstrand A; Lupski JR; Sedlazeck FJ; Zoghbi HY; Carvalho CMB
Letter: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):585-586
Prenatal diagnosis of non-immune hydrops fetalis: whole-exome sequencing or whole-genome sequencing?
Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
Letter: NATURE MEDICINE. 2022;28(10):1980-1982
Implementing precision medicine in a regionally organized healthcare system in Sweden
Fioretos T; Wirta V; Cavelier L; Berglund E; Friedman M; Akhras M; Botling J; Ehrencrona H; Engstrand L; Helenius G; Fagerqvist T; Gisselsson D; Gruvberger-Saal S; Gyllensten U; Heidenblad M; Hoglund K; Jacobsson B; Johansson M; Johansson A; Soller MJ; Landstrom M; Larsson P; Levin L-A; Lindstrand A; Lovmar L; Lyander A; Melin M; Nordgren A; Nordmark G; Molling P; Palmqvist L; Palmqvist R; Repsilber D; Sikora P; Stenmark B; Soderkvist P; Stranneheim H; Strid T; Wheelock CE; Wadelius M; Wedell A; Edsjo A; Rosenquist R
Other: CLINICAL CASE REPORTS. 2022;10(6):e5989
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
Ygberg S; Lindstrand A
Conference publication: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2022;63(7)
SCLT1-related disease as a rare cause of cone dystrophy with subtle systemic associations resembling ciliopathy
Pechhacker MG; Molnar A; Birkeldh U; Querat L; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Miyahara H; Eriksson G; Ha T; Utine GE; Chiu T; Shimizu K; Hammarsjo A; Boduroglu K; Arts P; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):236-237
Solve-RD: the ITHACA perspective
Denomme-Pichon A-S; de Boer E; Jackson A; Benetti E; Banka S; Casari G; Ciolfi A; Clayton-Smith J; Dallapiccola B; Ellwanger K; Faivre L; Gilissen C; Graessner H; Haack TB; Hammarsjo A; Havlovicova M; Hoischen A; Hugon A; Kleefstra T; Lindstrand A; Lopez-Martin E; Macek MJ; Matalonga L; Morleo M; Nigro V; Nordgren A; Pettersson M; Pinelli M; Pizzi S; Posada M; Radio FC; Renieri A; Rooryck C; Ryba L; Schwarz M; Tartaglia M; Thauvin C; Torella A; Trimouille A; Votypka P; Vyshka K; Zurek B; Verloes A; Vitobello A; Vissers L
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):440
Are copy-number gains in 17p11.2 not involving RAI1 still Potocki-Lupski Syndrome?
Grochowski CM; Potocki L; Lindstrand A; Carvalho CMB; Lupski JR
Preprint: MEDRXIV. 2022
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Lowther C; Mehrjouy M; Collins R; Bak M; Dudchenko O; Brand H; Dong Z; Rasmussen M; Gu H; Weisz D; Nazaryan-Petersen L; Fjorder A; Mang Y; Lind-Thomsen A; Mendez JMM; Calle X; Chopra A; Hansen C; Bugge M; Broekema R; Varilo T; Luukkonen T; Engelen J; Vianna-Morgante A; Fonseca AC; Mazzeu J; Dornelles-Wawruk H; Abe K; Vermeesch J; Van Den Bogaert K; Sismani C; Aristidou C; Evangelidou P; Schinzel A; Sanlaville D; Schluth-Bolard C; Kalscheuer V; Wenzel M; Kim H-G; Õunap K; Roht L; Midyan S; Bonaglia M; Lindstrand A; Eisfeldt J; Ottosson J; Nilsson D; Pettersson M; Bastos E; Rajcan-Separovic E; Silan F; Sheth F; Novelli A; Frengen E; Fannemel M; Strømme P; Vokač NK; Daumer-Haas C; Moretti-Ferreira D; de Souza DH; Ramos-Arroyo M; Igoa M; Angelova L; Kroisel P; Rey GD; Vieira TAP; Lewis S; Hao W; Drabova J; Havlovicova M; Hancarova M; Sedláček Z; Vogel I; Hjortshøj T; Møller R; Tümer Z; Fagerberg C; Ousager L; Schönewolf-Greulich B; Lauridsen M; Piard J; Pebrel-Richard C; Jaillard S; Ehmke N; Stefanou E; Marta C; György K; Dalal A; Dutta U; Shukla R; Lonardo F; Zuffardi O; Houge G; Misceo D; Baig S; Midro A; Wawrusiewicz-Kurylonek N; Carreira I; Melo J; Martinez LR; Guitart M; Lovmar L; Gullander J; Hansson KBM; de Almeida Esteves C; Akkari Y; Batanian J; Li X; Lespinasse J; Silahtaroglu A; Harding CH; Krogh LN; Taylor J; Lehnert K; Hill R; Snell R; Samson C; Jacobsen J; Levy B; Clark OA; Toylu A; Nur B; Mihci E; O’Keefe K; Mohajeri-Stickels K; Wilch E; Kammin T; Piña-Aguilar R; Nalbandian K; Temel S; Sag SO; Turkgenc B; Kamath A; Ruiz-Herrera A; Banka S; Schilit SLP; Currall B; Yachelevich N; Galloway S; Chung W; Raskin S; Maya I; Orenstein N; Gilad NK; Flamenbaum K; Hay B; Morton C; Liao E; Choy KW; Gusella J; Jacky P; Aiden EL; International Breakpoint Mapping Consortium (IBMC); Danish Cytogenetic Central Registry Study Group; Developmental Genome Anatomy Project (DGAP); Bache I; Talkowski M; Tommerup N
Preprint: AUTHOREA PREPRINTS. 2021
Expanding the phenotype of the truncating eIF2 pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrom
Ygberg S; Lindstrand A
Preprint: BIORXIV. 2021
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
Peña-Pérez L; Frengen N; Hauenstein J; Gran C; Gustafsson C; Eisfeldt J; Kierczak M; Taborsak-Lines F; Olsen R-A; Wallblom A; Krstic A; Ewels P; Lindstrand A; Månsson R
Preprint: AUTHOREA PREPRINTS. 2021
PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the MatchMaker Exchange network
Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1470-1471
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (Apr, 10.1038/s41431-021-00900-2, 2021)
de Boer E; Ockeloen CW; Matalonga L; Horvath R; Rodenburg RJ; Coenen MJH; Janssen M; Henssen D; Gilissen C; Steyaert W; Trimouille A; Kleefstra T; Verloes A; Vissers LELM
Other: LAKARTIDNINGEN. 2021;118:21015
[The utility of whole genome sequencing in rare disease diagnostics].
Johansson Soller M; Nordgren A; Ehrencrona H; Lovmar L; Wedell A; Lindstrand A
Other: XIIITH INTERNATIONAL SYMPOSIUM ON SPERMATOLOGY. 2021;:125
When Cilia Go Bad: The Complex Genetics of Ciliopathies
Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):3-4
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Kvarnung M; Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Lindstrand A; Nordgren A; Anderlid B; Rosenfeld JA; Liu P; Scheffer IE; Brunetti-Perri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy FR; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE; Nordenskjold M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):331-332
Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95
Rodriguez-Palmero Seuma A; Boerrigter M; Mandrile G; Pelle A; Giorgio E; Lindstrand A; Johansson M; Kvarnung M; Everman D; Bahrambeigi V; MacKenzie A; Morton J; Ruivenkamp C; Challman T; Hurst A; Hoyer J; Elmslie F; Dye T; Isidor B; Haldeman-Englert C; Gomez-Andres D; Schluter A; de Man S; Shieh J; Prada C; Moutton S; Denomme-Pichon A; Motti S; Bruel A; Mau-Them FT; Reiter S; van Ravenswaaij-Arts C; Shaw-Smith C; Parikh S; Aldinger K; Lovgren A; Rauch A; Ross M; Gomez-Puertas P; de Vries B; Pujol A; Tumer Z
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities
Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
Increased yield of genetic diagnoses in skeletal ciliopathies using massively parallel sequencing, structural variant and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Taylan F; Batkovskyte D; Anderlid B; Lin AE; Shimizu K; Beleza-Meireles A; Chung B; Voss U; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):588
A case of ring chromosome 21 with hemifacial microsomia, developmental and speech delay analysed with WGS and patient-derived iPS
Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Shahsavani M; Nilsson D; Falk A; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):117-118
Deciphering genomic inversions
Grochowski CM; Pettersson M; Eisfeldt J; Gandhi M; Pehlivan D; Gonzaga-Jauregui C; Withers M; Stankiewicz P; Krepischi ACV; Lupski JR; Lindstrand A; Carvalho CMB
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):605-606
Phased WGS by direct library preparation from 240 FACS sorted cells for comprehensive genetics in multiple myeloma
Gran C; Pena-Perez L; Eisfeldt J; Gustafsson C; Bruchfeld JB; Hauenstein J; Frengen N; Taborsak-Lines F; Olsen R; Ewels P; Lindstrand A; Nahi H; Mansson R
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):908-909
Chromoanasynthesis with involvement of chromosome 21: rare cause for dysmorphic features and developmental disorder
Lisfeld J; Pettersson M; Rudolph S; Fuchs S; Eisfeldt J; Hempel M; Lindstrand A
Other: NATURE COMMUNICATIONS. 2020;11(1):5398
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Other: LAKARTIDNINGEN. 2020;117:19238
[Important to evaluate children with visual impairment].
Fahnehjelm C; Dahl S; Skriapa Manta A; Lindstrand A; Wickström R; Fahnehjelm K
Conference publication: FASEB JOURNAL. 2020;34:1
Defective membrane insertion of mutant Na,K-ATPase, a cause of fatal epilepsy
Howard R; Ygberg S; Andersson M; Akkuratov E; Jans D; Brismar H; Lindstrand A; Aperia A
Preprint: BIORXIV. 2020
Rare variants in dynein heavy chain genes in two individuals withsitus inversusand developmental dyslexia
Bieder A; Einarsdottir E; Matsson H; Nilsson H; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Páez I
Other: LAKARTIDNINGEN. 2020;117:FU7F
[Premature ovarian insufficiency - patients are underdiagnosed and undertreated].
Norling A; Lindstrand A; Hirschberg A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667
From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics
Nilsson D; Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533
Family trio analysis in rare syndromes - Clinical experience and outcome
Lagerstedt-Robinson K; Anderlid B; Nordgren A; Grigelioniene G; Kvarnung M; Gustavsson P; Tham E; Nilsson D; Soller MJ; Nordenskjold M; Lindstrand A; Malmgren H
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143
Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome
Kvarnung M; Shahsavani M; Taylan F; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1272
KIAA0753 mutations in skeletal ciliopathies: unveiling disease mechanisms
Vaz R; Hammarsjo A; Taylan F; Chitayat D; Grigelioniene G; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1766
Discovery of novel Viking sequences in Swedish genomes
Eisfeldt J; Martensson G; Ameur A; Nilsson D; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1137-1138
Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats
Pettersson M; Grochowski CM; Eisfeldt J; Wincent J; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666
Whole genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Duvdevani MP; Pettersson M; Eisfeldt J; Frumkin A; Lindstrand A; Harel T
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1659
A RNA workflow designed for routine clinical diagnostics
Jemt A; Eisfeldt J; Lindstrand A; Wedell A; Stranneheim H
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
Mosaic activating PIK3CA mutations during early embryonic development cause ectopic muscle development and upper limb overgrowth
Taylan F; Frisk S; Blaszczyk I; Nennesmo I; Anneren G; Stattin E; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1070
Delineating the structure of chromosome rearrangements using multiple WGS technologies
Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1830
A novel pathogenic TBX5 variant in a family with Holt-Oram syndrome: reverse phenotyping counts
Pacheco NP; Lagerstedt-Robinson K; Tesi B; Hammarsjo A; Mannila M; Lindstrand A; Grigelioniene G
Conference publication: 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
G G; HI S; F T; F M; ZU B; UM A; S T; E H; A L; MA W; G G; A H; E M; A N; M N; DR E; ML W; G N; PA S; T K
Conference publication: MOLECULAR CYTOGENETICS. 2019;12
From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics
Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Nilsson D; Lindstrand A
Conference publication: MOLECULAR CYTOGENETICS. 2019;12
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Cheung SW; Victorino Krepischi AC; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:123-124
PLS3 deletions lead to severe spinal osteoporosis and disturbed bone matrix mineralization
Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
Review: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2019;20(6):E1296-1296
Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
Vaz R; Hofmeister W; Lindstrand A
Other: BASIC AND CLINICAL ANDROLOGY. 2018;28:13
Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th-12th 2018, Stockholm, Sweden
Levine H; Mohri H; Ekbom A; Ramos L; Parker G; Roldan E; Jovine L; Koelle S; Lindstrand A; Immler S; Mortimer S; Mortimer D; van der Horst G; Ishijima S; Aneck-Hahn N; Baldi E; Menkveld R; Rothmann SA; Giwercman A; Giwercman Y; Holmberg M; Kvist U; Bjorndahl L; Holmberg R; Arver S; Flanagan J; Drevet JR
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
Experiences from whole genome sequencing in diagnostics - broad in silico panels and introducing structural variant detection
Nilsson D; Robinson KL; Malmgren H; Karlsson M; Gustavsson P; Hammarsjo A; Grigelioniene G; Arce MP; Tham E; Pigg MH; Anderlid B; Nordgren A; Jorholt J; Kvarnung M; Sejersen T; Lieden A; Lundin J; Eisfeldt J; Lindstrand A; Wirta V; Nordenskjold M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675
Whole exome sequencing in rare syndromes using family trios - Clinical experience and outcome
Lagerstedt-Robinson K; Anderlid B; Nordgren A; Kvarnung M; Lindstrand A; Grigelioniene G; Tham E; Gustavsson P; Nilsson D; Nordenskjold M; Malmgren H
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:60
Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching
Nazaryan-Petersen L; Eisfeldt J; Lundin J; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:510-511
Intragenic deletion of WDR63 results in a dominant negative ciliopathy disorder
Hofmeister W; Kurtoglo D; Pettersson M; Armenio M; Eisfeldt J; Papadogiannakis N; Gustavsson P; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:211
Rare copy number variants are enriched and highlight novel pathways in individuals with early-onset severe obesity
Pettersson M; Viljakainen H; Loid P; Mustila T; Armenio M; Assarsson JA; Makitie O; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:590-591
High resolution copy number variant and mutation analysis identify novel candidate genes in optic nerve hypoplasia
Dahl S; Pettersson M; Wickstrom R; Fahnehjelm KT; Anderlid B; Lindstrand A
Preprint: BIORXIV. 2018
Loss of zebrafish ctnnd2b results in disorganised forebrain neuron clusters
Hofmeister W; Vaz R; Edwards S; Dueñas Rey A; Lindstrand A
Conference publication: BONE ABSTRACTS. 2017
Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility
Costantini A; Skarp S; Kampe A; Pettersson M; Makitie R; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
Conference publication: MOLECULAR CYTOGENETICS. 2017;10
Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non homologous repair or template switching
Eisfeldt J; Nazaryan-Petersen L; Lundin JL; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Letter: CLINICAL GENETICS. 2015;87(5):496-498
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
Doctoral thesis: 2009
Characterization of chromosome abnormalities
Lindstrand A
Conference publication: CHROMOSOME RESEARCH. 2009;17:92
Identification of a novel microdeletion syndrome in 17p13.3 distinct from isolated lissencephaly sequence and Miller-Dieker syndrome
Lindstrand A; Anderlid B; Bruno D; Lundin J; Martin CL; Nowak C; Slater H; Schoumans J
Conference publication: CHROMOSOME RESEARCH. 2009;17:92-93
A comparative, high resolution analysis of DNA - a technological challenge or a real breakthrough in the diagnostics of genomic diseases
Lindstrand A; Anderlid B; Bruno D; Lundin J; Martin CL; Nowak C; Slater H; Schoumans J
Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2009;72:241
Genotype-phenotype variations in a family with an unique X to 15 rearrangement
Lindgren AC; Lindstrand A; Hagenas L; Malmgren H; Blennow E; Grigelioniene G
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2008;146A(24):3217-3222
Molecular Cytogenetic Characterization of a Constitutional, Highly Complex Intrachromosomal Rearrangement of Chromosome 1, With 14 Breakpoints and a 0.5 Mb Submicroscopic Deletion
Lindstrand A; Malmgren H; Sahlen S; Xin H; Schoumans J; Blennow E
Conference publication: CELLULAR ONCOLOGY. 2007;29(2):148
Characterization of two disease associated, apparently balanced, complex chromosome rearrangements
Lindstrand A; Malmgren H; Schoumans J; Blennow E
Conference publication: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(4):454-455
P10: High resolution fine mapping of an extremely complex intrachromosomal rearrangement of chromosome 1 involving 13 breakpoints
Sahlén S; Malmgren H; Lindstrand A; Schoumans J; Blennow E
Visa fler

Forskningsbidrag

Studies of structural chromosome rearrangements to identify genes and cellular mechanisms involved in congenital brain disorders
Swedish Research Council
1 January 2023 - 31 December 2026
Lindstrand, Anna Magdalena – Using zebrafish to develop combination therapies to overcome drug resistance in AML
Swedish Cancer Society
1 January 2022
Studies of structural chromosome rearrangements to identify genes and cellular mechanisms involved in congenital brain disorders
Swedish Research Council
1 January 2020 - 31 December 2025
Constitutional genetic aberrations behind childhood cancer
Swedish Research Council
1 January 2019 - 31 December 2021
Congenital skeletal disorders: identification of molecular mechanisms and clinical characterisation.
Swedish Research Council
1 January 2019 - 31 December 2021
Studies of structural chromosome rearrangements to identify genes involved in congenital brain disorders
Swedish Research Council
1 January 2018 - 31 December 2021
Zebrafish studies to develop new treatments for drug-resistant leukemia
Swedish Cancer Society
1 January 2018
Molecular and functional studies of structural DNA changes in the human genome
Swedish Research Council
1 January 2013 - 31 December 2015
Notification of the use of return contributions for awarded postdoctoral scholarships
Swedish Research Council
1 September 2012 - 31 August 2013

Anställningar

Överläkare, Klinisk genetik och genomik, Karolinska University Hospital, 2019-
Director Clinical Genetics Laboratory, Clinical Genetics and Genomics, Karolinska University Hospital, 2018-
Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2020-2028
Specialist physician, Clinical Genetics and Genomics, Karolinska University Hospital, 2012-2019
Resident, Clinical genetics and Genomics, Karolinska University Hospital, 2002-2012

Examina och utbildning

Docent, Klinisk genetik, Karolinska Institutet, 2016
Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2010
Läkarexamen, Karolinska Institutet, 1999

Handledning

Esmee ten Berk de Boer, 2023-
Elin Stavrén Eriksson, 2023-
Olivia Henry, 2022-
Kristine Bilgrav Saether, 2021-
Ida Nordgren, 2021-
Marlene Ek, 2021-
Hillevi Lindelöf, 2020-
Emma Ehn, 2019-
Emelie Ponten, 2017-
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases, 2022
Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing, 2019
Jakob Schuy, Studies of structural chromosome rearrangments to identify genes involved in congenital brain disorders, 2023
Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, https://openarchive.ki.se/articles/thesis/Structural_genomic_variation_in_human_disease/26917915?file=48962779, 2019
Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS, 2018
Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis, https://openarchive.ki.se/articles/thesis/Genetic_causes_and_underlying_disease_mechanisms_in_early-onset_osteoporosis/26919550?file=48964903, 2020
Karin Salehi, Molecular and clinical studies of intestinal malrotation, https://openarchive.ki.se/articles/thesis/Molecular_and_clinical_studies_of_intestinal_malrotation/26912176?file=48956170, 2022
Samara Arkani, Molecular and epidemiological studies of bladder exstrophy and epispadias complex, https://dspace.kib.ki.se/xmlui/handle/10616/48566, 2023
Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved, https://openarchive.ki.se/articles/thesis/Genetic_studies_of_rare_skeletal_disorders_to_solve_the_unsolved/26903353?file=48945721, 2024

Gästforskning och resestipendier

Visiting professor, Pacific Northwest Diabetes Research Institute, 1 month visiting professor, 2024-2024
Postdoctoral Researcher, Duke University, 2 year VR funder postdoc, focus on ciliopathies, CNV screening and zebrafish modelling, 2010-2012

Om mig

Forskningsbeskrivning

Artiklar

Alla övriga publikationer

Forskningsbidrag

Anställningar

Examina och utbildning

Handledning

Gästforskning och resestipendier

Nyheter från KI

Kalenderhändelser från KI