Maria Pettersson

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: 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: BRAIN COMMUNICATIONS. 2023;5(4):fcad213

Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort

Kolbjer S; Munoz DAM; OIrtqvist AK; Pettersson M; Hammarsjo A; Anderlid B-M; Dahlin M

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: 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

Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(2):378-390

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

Nordenskjold A; Arkani S; Pettersson M; Winberg J; Cao J; Fossum M; Anderberg M; Barker G; Holmdahl G; Lundin J

Article: FRONTIERS IN GENETICS. 2023;14:1174046

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

Flores AG; Nordgren I; Pettersson M; Dias-Santagata D; Nilsson D; Hammarsjo A; Lindstrand A; Batkovskyte D; Wiggs J; Walton DS; Goldenberg P; Eisfeldt J; Lin AE; Lachman RS; Nishimura G; Grigelioniene G

Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M

Article: 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: 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: MOLECULAR CYTOGENETICS. 2021;14(1):30

Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

Westenius E; Pettersson M; Bjorck E

Article: HUMAN GENETICS. 2021;140(5):775-790

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

Eisfeldt J; Pettersson M; Petri A; Nilsson D; Feuk L; Lindstrand A

Article: GENOME MEDICINE. 2021;13(1):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;12:803683

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Moslem M; Nilsson D; Dahl N; Shahsavani M; Falk A; Lindstrand A

Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2021;30:71-81

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects

Kolbjer S; Martin DA; Pettersson M; Dahlin M; Anderlid B-M

Article: MOLECULAR CYTOGENETICS. 2020;13(1):51

Confined placental mosaicism of Duchenne muscular dystrophy: a case report

Winerdal M; Westenius E; Granfors M; Pettersson M; Iwarsson E

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: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1143-1151

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T

Article: PLOS ONE. 2020;15(2):e0228622

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

Dahl S; Pettersson M; Eisfeldt J; Schroder AK; Wickstrom R; Fahnehjelm KT; Anderlid B-M; Lindstrand A

Article: 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: 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: 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: 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(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: SCIENTIFIC REPORTS. 2017;7(1):15585

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Hammarsjo A; Wang Z; Vaz R; Taylan F; Sedghi M; Girisha KM; Chitayat D; Neethukrishna K; Shannon P; Godoy R; Gowrishankar K; Lindstrand A; Nasiri J; Baktashian M; Newton PT; Guo L; Hofmeister W; Pettersson M; Chagin AS; Nishimura G; Yan L; Matsumoto N; Nordgren A; Miyake N; Grigelioniene G; Ikegawa S

Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Makitie O; Lindstrand A

Article: 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: 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: 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: 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

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