Maria Pettersson

Publications
CV
Public outreach and news

Articles

Article: NATURE GENETICS. 2024;56(11):2287-2294
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; 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
Article: ULTRASOUND IN OBSTETRICS AND 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 AND METABOLISM (JCEM). 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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Thesis / dissertation: 2019
Structural genomic variation in human disease
Pettersson, Maria

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degrees and Education

Degree Of Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2019
Degree Of Bachelor Of Medical Science, Karolinska Institutet, 2013

Supervisor

Marlene Ek, 2021

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