Helena Malmgren

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Articles

Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2023;451:120707
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders
Paucar M; Laffita-Mesa J; Niemela V; Malmgren H; Nennesmo I; Lagerstedt-Robinson K; Nordenskjold M; Svenningsson P
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: 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: 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: 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: 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: CELL DEATH AND DISEASE. 2020;11(4):238
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome
Bergstrand S; Bohm S; Malmgren H; Norberg A; Sundin M; Nordgren A; Farnebo M
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: 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: CEREBELLUM AND ATAXIAS. 2019;6:9
The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.
Skott H; Muntean-Firanescu C; Samuelsson K; Verrecchia L; Svenningsson P; Malmgren H; Cananau C; Espay AJ; Press R; Solders G; Paucar M
Article: CLINICAL GENETICS. 2018;94(6):528-537
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
Kvarnung M; Taylan F; Nilsson D; Anderlid B-M; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjoeld M; Nordgren A; Lundberg ES
Article: HUMAN REPRODUCTION. 2018;33(3):520-530
The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study
Kakourou G; Kahraman S; Ekmekci GC; Tac HA; Kourlaba G; Kourkouni E; Sanz AC; Martin J; Malmgren H; Gimenez C; Gold V; Carvalho F; Billi C; Chow JFC; Vendrell X; Kokkali G; Liss J; Steffann J; Traeger-Synodinos J
Journal article: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. 2017;7(0):529
Paroxysmal Kinesigenic Dyskinesia
Paucar M; Malmgren H; Svenningsson P
Article: PRENATAL DIAGNOSIS. 2017;37(11):1146-1154
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
Wilbe M; Gudmundsson S; Johansson J; Ameur A; Stattin E-L; Anneren G; Malmgren H; Frykholm C; Bondeson M-L
Article: GENETICS IN MEDICINE. 2017;19(8):900-908
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Bengani H; Handley M; Alvi M; Ibitoye R; Lees M; Lynch SA; Lam W; Fannemel M; Nordgren A; Malmgren H; Kvarnung M; Mehta S; McKee S; Whiteford M; Stewart F; Connell F; Clayton-Smith J; Mansour S; Mohammed S; Fryer A; Morton J; Grozeva D; Asam T; Moore D; Sifrim A; McRae J; Hurles ME; Firth HV; Raymond FL; Kini U; Nellaker C; FitzPatrick DR
Article: REPRODUCTIVE BIOMEDICINE ONLINE. 2017;34(6):645-652
Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome
Kouru KH; Malmgren H; White I; Sanchez AR; Lundberg ES
Article: TREMOR AND OTHER HYPERKINETIC MOVEMENTS. 2017;7:529
Paroxysmal Kinesigenic Dyskinesia.
Paucar M; Malmgren H; Svenningsson P
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):373-381
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders MRF; Zachariadis V; Latour B; Jolly L; Mancini GM; Pfundt R; Wu KM; van Ravenswaaij-Arts CMA; Veenstra-Knol HE; Anderlid B-MM; Wood SA; Cheung SW; Barnicoat A; Probst F; Magoulas P; Brooks AS; Malmgren H; Harila-Saari A; Marcelis CM; Vreeburg M; Hobson E; Sutton VR; Stark Z; Vogt J; Cooper N; Lim JY; Price S; Lai AHM; Domingo D; Reversade B; Gecz J; Gilissen C; Brunner HG; Kini U; Roepman R; Nordgren A; Kleefstra T
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: NEUROLOGY: GENETICS. 2016;2(1):e49
Expanding the ataxia with oculomotor apraxia type 4 phenotype.
Paucar M; Malmgren H; Taylor M; Reynolds JJ; Svenningsson P; Press R; Nordgren A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1176-1185
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
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
Journal article: REPRODUCTIVE BIOMEDICINE ONLINE. 2014;28:s22-s23
PP-046 Improved results in PGD with a change of method
Moller L; Wardell KM; Sheikhi M; Nordén L; Gudmundsson J; Persson I; Lofthag U; Stolpe L; White I; Malmgren H; Töhönen V
Article: NATURE GENETICS. 2014;46(4):380-384
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel C; Vulto-van Silfhout AT; Coe BP; Vandeweyer G; Rooms L; van den Ende J; Schuurs-Hoeijmakers JHM; Marcelis CL; Willemsen MH; Vissers LELM; Yntema HG; Bakshi M; Wilson M; Witherspoon KT; Malmgren H; Nordgren A; Anneren G; Fichera M; Bosco P; Romano C; de Vries BBA; Kleefstra T; Kooy RF; Eichler EE; Van der Aa N
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(2):425-431
Small Mosaic Deletion Encompassing the snoRNAs and SNURF-SNRPN Results in an Atypical Prader-Willi Syndrome Phenotype
Anderlid B-M; Lundin J; Malmgren H; Lehtihet M; Nordgren A
Article: PLOS ONE. 2013;8(12):e80114
GSTM1 Gene Expression Correlates to Leiomyoma Volume Regression in Response to Mifepristone Treatment
Engman M; Varghese S; Robinson KL; Malmgren H; Hammarsjo A; Bystrom B; Lalitkumar PGL; Gemzell-Danielsson K
Article: STEM CELLS AND DEVELOPMENT. 2012;21(18):3363-3371
In Vivo Differentiated Human Embryonic Stem Cells Can Acquire Chromosomal Aberrations More Frequently Than In Vitro During the Same Period
Zucchelli M; Strom S; Holm F; Malmgren H; Sahlen S; Religa P; Hovatta O; Kere J; Inzunza J
Article: HUMAN REPRODUCTION. 2012;27(9):2843-2849
One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre
Kouru KH; Malmgren H; Nordenskjold M; Fridstrom M; Csemiczky G; Blennow E
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: SEMINARS IN FETAL AND NEONATAL MEDICINE. 2011;16(2):74-80
Preimplantation genetic diagnosis: twenty years of practice
Iwarsson E; Malmgren H; 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: 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
Article: PEDIATRIC BLOOD AND CANCER. 2009;53(6):1143-1146
Compound Heterozygous HAX1 Mutations in a Swedish Patient With Severe Congenital Neutropenia and No Neurodevelopmental Abnormalities
Carlsson G; Elinder G; Malmgren H; Trebinska A; Grzybowska E; Dahl N; Nordenskjold M; Fadeel B
Article: CLINICAL GENETICS. 2008;74(1):61-67
Concurrent microdeletion and duplication of 22q11.2
Blennow E; Lagerstedt K; Malmgren H; Sahlen S; Schoumans J; Anderlid BM
Journal article: REPRODUCTIVE BIOMEDICINE ONLINE. 2008;16:s31-s32
Patients’ experiences of preimplantation genetic diagnosis in Sweden
Malmgren H; Lampic C; Stevic J; Nilsson L; Hansson; Iwarsson E; Fridström M; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2007;143A(18):2143-2149
Distal 3p deletion syndrome:: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review
Malmgren H; Sahlen S; Wide K; Lundvall M; Blennow E
Article: MOLECULAR HUMAN REPRODUCTION. 2006;12(5):353-356
PGD for dystrophin gene deletions using fluorescence in situ hybridization
Malmgren H; White I; Johansson S; Levkov L; Iwarsson E; Fridstrom M; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2005;139A(1):25-31
Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34):: Deletion/duplication of 7q33-34 and clinical correlations
Malmgren H; Malm G; Sahlén S; Karlsson M; Blennow E
Journal article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(4):461-462
P15: Preimplantation genetic diagnosis for dystrophin gene deletions using fluorescence in situ hybridisation on single cells
Malmgren H; White I; Johansson S; Levkov L; Iwarsson E; Hovatta O; Fridström M; Blennow E
Journal article: 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
Article: MOLECULAR HUMAN REPRODUCTION. 2004;10(6):461-466
Comparative genomic hybridization and karyotyping of human embryonic stem cells reveals the occurrence of an isodicentric X chromosome after long-term cultivation
Inzunza J; Sahlén S; Holmberg K; Strömberg AM; Teerijoki H; Blennow E; Hovatta O; Malmgren H
Article: MOLECULAR HUMAN REPRODUCTION. 2002;8(5):502-510
Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations
Malmgren H; Sahlén S; Inzunza J; Aho M; Rosenlund B; Fridström M; Hovatta O; Ährlund-Richter L; Nordenskjöld M; Blennow E
Journal article: LAKARTIDNINGEN. 2002;99(14):1568-1573
[Proposal for ethical guidelines concerning preimplantation genetic diagnosis].
Wahlström J; Blennow E; Nilsson L; Malmgren H; Munthe C; Westerholm B
Journal article: REPRODUCTIVE BIOMEDICINE ONLINE. 2002;4:14-15
O-12. Single-cell comparative genomic hybridization analysis of human preimplantation embryos from patients with balanced structural chromosome aberrations undergoing PGD
Malmgren H; Sahlen S; Inzunza J; Aho M; Rosenlund B; Fridström M; Ährlund-Richter L; Hovatta O; Nordenskjöld M; Blennow E
Article: PRENATAL DIAGNOSIS. 2001;21(9):781-787
Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities
Fridström M; Ährlund-Richter L; Iwarsson E; Malmgren H; Inzunza J; Rosenlund B; Sjöblom P; Nordenskjöld M; Blennow E; Hovatta O
Article: PRENATAL DIAGNOSIS. 2000;20(13):1038-1047
Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers
Iwarsson E; Malmgren H; Inzunza J; Ährlund-Richter L; Sjöblom P; Rosenlund B; Fridström M; Hovatta O; Nordenskjöld M; Blennow E
Article: CLINICAL GENETICS. 1996;50(4):202-205
Rapid detection of a mutation hot-spot in the human androgen receptor.
Malmgren H; Gustavsson J; Tuvemo T; Dahl N
Article: METHODS. 1996;9(1):84-90
Detecting Genes with Ligases.
Landegren U; Samiotaki M; Nilsson M; Malmgren H; Kwiatkowski M
Article: HUMAN MOLECULAR GENETICS. 1995;4(4):615-621
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.
Bondeson ML; Dahl N; Malmgren H; Kleijer WJ; Tönnesen T; Carlberg BM; Pettersson U
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1995;3(4):219-227
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
Bondeson ML; Malmgren H; Dahl N; Carlberg BM; Pettersson U
Journal article: SCIENCE. 1994;265(5181):2085-2088
Padlock probes: circularizing oligonucleotides for localized DNA detection.
Nilsson M; Malmgren H; Samiotaki M; Kwiatkowski M; Chowdhary BP; Landegren U
Journal article: AMERICAN JOURNAL OF HUMAN GENETICS. 1994;55(2):225-237
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.
Rousseau F; Heitz D; Tarleton J; MacPherson J; Malmgren H; Dahl N; Barnicoat A; Mathew C; Mornet E; Tejada I
Journal article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1994;2(2):103-109
Strong founder effect for the fragile X syndrome in Sweden.
Malmgren H; Gustavson KH; Oudet C; Holmgren G; Pettersson U; Dahl N
Journal article: AMERICAN JOURNAL OF HUMAN GENETICS. 1993;52(6):1046-1052
Linkage mapping of a severe X-linked mental retardation syndrome.
Malmgren H; Sundvall M; Dahl N; Gustavson KH; Annerén G; Wadelius C; Steén-Bondeson ML; Pettersson U
Journal article: GENOMICS. 1993;16(3):586-592
1.5-Mb YAC contig in Xq28 formatted with sequence-tagged sites and including a region unstable in the clones.
Palmieri G; Romano G; Casamassimi A; D'Urso M; Little RD; Abidi FE; Schlessinger D; Lagerström M; Malmgren H; Steen-Bondeson ML
Journal article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1993;45(5):654-658
New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.
Gustavson KH; Annerén G; Malmgren H; Dahl N; Ljunggren CG; Bäckman H
Journal article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1992;44(6):830-833
Infantile autism--fragile X: molecular findings support genetic heterogeneity.
Malmgren H; Gustavson KH; Wahlström J; Arpi-Henriksson I; Bensch J; Pettersson U; Dahl N
Journal article: PEDIATRIC RESEARCH. 1992;32(5):621
METHYLATION AND MUTATION PATTERNS IN THE FRAGILE X SYNDROME
Malmgren H; Steen-Bondesson M-L; Gustavson K-H; Seemanova E; Holmgren G; Oberlé I; Mandel JL; Pettersson U; Dahi N
Journal article: LAKARTIDNINGEN. 1992;89(23):2091-2093
[New genetic findings radically improve the diagnostic possibilities in fragile X syndrome].
Dahl N; Gustavson KH; Malmgren H; Pettersson U
Journal article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1992;43(1-2):268-278
Methylation and mutation patterns in the fragile X syndrome.
Malmgren H; Steén-Bondeson ML; Gustavson KH; Seémanova E; Holmgren G; Oberlé I; Mandel JL; Pettersson U; Dahl N
Journal article: GENOME RESEARCH. 1991;1(2):111-119
Capture PCR: efficient amplification of DNA fragments adjacent to a known sequence in human and YAC DNA.
Lagerström M; Parik J; Malmgren H; Stewart J; Pettersson U; Landegren U
Journal article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1991;38(2-3):319-321
Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304.
Dahl N; Malmgren H; Pettersson U; Holmgren G; Seemanová E; Gustavson KH
Journal article: GENOMICS. 1989;5(4):797-801
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.
Vincent A; Dahl N; Oberlé I; Hanauer A; Mandel JL; Malmgren H; Pettersson U
Journal article: AMERICAN JOURNAL OF HUMAN GENETICS. 1989;45(2):304-309
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).
Dahl N; Goonewardena P; Malmgren H; Gustavson KH; Holmgren G; Seemanova E; Annerén G; Flood A; Pettersson U
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All other publications

Editorial comment: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020
Novel findings in a Swedish primary familial brain calcification cohort
Sennfalt S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Bjorkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
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. 2019;27:849-850
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
Wilbe M; Gudmundsson S; Johansson J; Ameur A; Stattin E; Anneren G; Malmgren H; Frykholm C; Bondeson M
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. 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: HUMAN REPRODUCTION. 2016;31:400
An ESHRE PGD Consortium multicentre retrospective cohort study investigating the clinical utility of PGD with human leukocyte antigen (HLA)-matching and factors influencing a positive outcome
Kakourou G; Kahraman S; Tac HA; Cervero Sanz A; Malmgren H; Gimenez C; Gold V; Carvalho F; Bili C; Chow JF; Vendrell X; Kokkali G; Liss J; Steffann J; Traeger-Synodinos J
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2016;170(1):266-269
Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu
Hammarsjo A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedren S; Nordenskjold M; Nishimura G; Grigelioniene G
Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1270
Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015)
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
Conference publication: HUMAN REPRODUCTION. 2015;30:384
Meiotic segregation analyses of reciprocal translocations in sperm and embryos: no support for predictive value regarding PGD outcome
Kouru KH; Malmgren H; White I; Sanchez AR; Lundberg ES
Conference publication: CHROMOSOME RESEARCH. 2013;21:S16
Hidden mosaicism: a rare explanation for recurrent miscarriages and affected offspring?
Blennow E; Kouru KH; Kvarnung M; Nordgren A; Malmgren H
Editorial comment: FERTILITY AND STERILITY. 2011;95(2):806-808
Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?
Kouru KH; Malmgren H; White I; Blennow E
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;17:80-81
Atypical deletion in the Prader Willi region
Nordgren A; Lundin J; Malmgren H; Lehtihet M; Anderlid B
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: ACTA OPHTHALMOLOGICA. 2008;86:39
Preimplantation genetic diagnosis for retinoblastoma: the first case in Sweden
All-Eriksson C; Seregard S; Malmgren H
Conference publication: CELLULAR ONCOLOGY (DORDRECHT). 2007;29(2):148
Characterization of two disease associated, apparently balanced, complex chromosome rearrangements
Lindstrand A; Malmgren H; Schoumans J; Blennow E
Book chapter: ENCYCLOPEDIA OF MEDICAL GENOMICS AND PROTEOMICS. 2004;p. 1065-1069
Preimplantation Genetic Diagnosis—An Overview
Bui T; Iwarsson E; Malmgren H
Conference publication: AMERICAN JOURNAL OF HUMAN GENETICS. 1999;65(4):A165
A high degree of mosaicism in preimplantation embryos from a carrier of a reciprocal translocation t(11;22)(q23;q11).
Iwarsson E; Malmgren H; Inzunza J; Ahrlund-Richter L; Rosenlund B; Fridström M; Sjöblom P; Nordenskjöld M; Blennow E
Other: GENOMICS. 1995;29(1):291-293
Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.
Malmgren H; Carlberg BM; Pettersson U; Bondeson ML

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