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. 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 zebrafisk. 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: NATURE GENETICS. 2024;:1-8
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; Bilgrav Saether K; Höijer 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; Hammarsjö A; Hammond CK; Hatirnaz Ng Ö; Hesketh S; Hettiarachchi D; Johansson Soller M; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Lysenkova Wiklander M; Makay P; Maiga AB; Maya-González C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjö S; Ottosson J; Ozbek U; Özdemir Ö; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; Posada de la Paz M; 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; Tümer Z; van Zelst-Stams WAG; Verloes A; Västerviga E; Wang S; Yang R; Yamamoto S; Yépez 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
Journal article: 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
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
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: 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: 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: 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
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
Characterisation of structural chromosomal variants by short and long read sequencing of DNA and RNA
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: 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: 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: 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: 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: 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: 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: 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
Journal 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; Denommé-Pichon A-S; Matalonga L; Laurie S; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA
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: 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: 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
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: 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: 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: 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: FRONTIERS IN GENETICS. 2021;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: 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: LAKARTIDNINGEN. 2020;117:19238
[Important to evaluate children with visual impairment].
Fahnehjelm C; Dahl S; Skriapa Manta A; Lindstrand A; Wickström R; Fahnehjelm K
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: LAKARTIDNINGEN. 2020;117:FU7F
[Premature ovarian insufficiency - patients are underdiagnosed and undertreated].
Norling A; Lindstrand A; Hirschberg 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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
Journal 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 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: 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: 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: 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; Annerén G; Arner M; Pettersson M; Jäntti N; Rosberg H-E; Cattini PA; Nordenskjöld A; Mäkitie 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
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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
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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
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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
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Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
Lindstrand A; Schoumans J; Gustavsson P; Hanemaaijer N; Malmgren H; Blennow E
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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
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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
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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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P10: High resolution fine mapping of an extremely complex intrachromosomal rearrangement of chromosome 1 involving 13 breakpoints
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Blood transcriptome database to detect aberrant splicing in rare disease diagnostics
de Boer ETB; Thonberg H; Carlsten J; Jemt A; Eisfeldt J; Lindstrand A
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;32:523-524
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
Preprint: MEDRXIV. 2023
Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
Eisfeldt J; Ameur A; Lenner F; de Boer ETB; Ek M; Wincent J; Vaz R; Ottosson J; Jonson T; Ivarsson S; Thunström 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; Saether KB; 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
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: 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;31:469
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;31:576-577
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;31:632
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;31:444
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;31:451
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
Review: CAMB PRISM PRECIS MED. 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)
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
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
Letter: 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
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
Preprint: MEDRXIV. 2022
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Lowther C; Mehrjouy MM; Collins RL; Bak MC; Dudchenko O; Brand H; Dong Z; Rasmussen MB; Gu H; Weisz D; Nazaryan-Petersen L; Fjorder AS; Mang Y; Lind-Thomsen A; Mendez JMM; Calle X; Chopra A; Hansen C; Bugge M; Broekema RV; Varilo T; Luukkonen T; Engelen J; Vianna-Morgante AM; Fonseca ACS; Mazzeu JF; Dornelles-Wawruk H; Abe KT; Vermeesch JR; Van Den Bogaert K; Sismani C; Aristidou C; Evangelidou P; Schinzel AA; Sanlaville D; Schluth-Bolard C; Kalscheuer VM; Wenzel M; Kim H-G; Õunap K; Roht L; Midyan S; Bonaglia MC; Lindstrand A; Eisfeldt J; Ottosson J; Nilsson D; Pettersson M; Bastos EF; Rajcan-Separovic E; Silan F; Sheth FJ; Novelli A; Frengen E; Fannemel M; Strømme P; Vokač NK; Daumer-Haas C; Moretti-Ferreira D; de Souza DH; Ramos-Arroyo MA; Igoa MM; Angelova L; Kroisel PM; del Rey G; Vieira TAP; Lewis S; Hao W; Drabova J; Havlovicova M; Hancarova M; Sedláček Z; Vogel I; Hjortshøj TD; Møller RS; Tümer Z; Fagerberg C; Ousager LB; Schönewolf-Greulich B; Lauridsen M; Piard J; Pebrel-Richard C; Jaillard S; Ehmke N; Stefanou EG; Marta C; György K; Dalal A; Dutta UR; Shukla R; Lonardo F; Zuffardi O; Houge G; Misceo D; Baig SM; Midro A; Wawrusiewicz-Kurylonek N; Carreira IM; Melo JB; Martinez LR; Guitart M; Lovmar L; Gullander J; Hansson KBM; de Almeida Esteves C; Akkari Y; Batanian JR; Li X; Lespinasse J; Silahtaroglu A; Harding CH; Krogh LN; Taylor J; Lehnert K; Hill R; Snell RG; Samson CA; Jacobsen JC; Levy B; Clark OA; Toylu A; Nur B; Mihci E; O’Keefe K; Mohajeri-Stickels K; Wilch ES; Kammin T; Piña-Aguilar RE; Nalbandian K; Temel SG; Sag SO; Turkgenc B; Kamath A; Ruiz-Herrera A; Banka S; Schilit SLP; Currall BB; Yachelevich N; Galloway S; Chung WK; Raskin S; Maya I; Orenstein N; Gilad NK; Flamenbaum KR; Hay BN; Morton CC; Liao E; Choy KW; Gusella JF; Jacky P; Aiden EL; Consortium IBM; Group DCCRS; Project DGA; Bache I; Talkowski ME; Tommerup N
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
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):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
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):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
Preprint: AUTHOREA. 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. 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
Book chapter: XIIITH INTERNATIONAL SYMPOSIUM ON SPERMATOLOGY. 2021;p. 125
When Cilia Go Bad: The Complex Genetics of Ciliopathies
Lindstrand A
Corrigendum: 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
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
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):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
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):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):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: 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
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
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;27:1666
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;27:123-124
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
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: 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;27:1666-1667
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: 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: 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: 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
Preprint: BIORXIV. 2018
Loss of zebrafish ctnnd2b results in disorganised forebrain neuron clusters
Hofmeister W; Vaz R; Edwards S; Rey AD; 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
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
Editorial comment: 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: 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
Thesis / dissertation: 2009
Characterization of chromosome abnormalities
Lindstrand, Anna
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
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
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
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
Congenital skeletal disorders: identification of molecular mechanisms and clinical characterisation.
Swedish Research Council
1 January 2019 - 31 December 2021
Constitutional genetic aberrations behind childhood cancer
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, 2020-2024
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

Handledare

Esmee ten Berk de Boer, 2023
Elin Stavrén Eriksson, 2023
Olivia Henry, 2022
Ida Nordgren, 2021
Marlene Ek, 2021
Kristine Bilgrav Saether, 2021
Hillevi Lindelöf, 2020
Emma Ehn, 2019
Emelie Ponten, 2017
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
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
Samara Arkani, Molecular and epidemiological studies of bladder exstrophy and epispadias complex, https://dspace.kib.ki.se/xmlui/handle/10616/48566
Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
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
Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, https://openarchive.ki.se/articles/thesis/Structural_genomic_variation_in_human_disease/26917915?file=48962779
Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases
Jakob Schuy, Studies of structural chromosome rearrangments to identify genes involved in congenital brain disorders

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

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Examina och utbildning

Handledare

Gästforskning och resestipendier

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