Josephine Wincent

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Selected publications

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
Article: JAMA OTOLARYNGOLOGY - HEAD AND NECK SURGERY. 2023;149(5):390-396
The Risk of Cholesteatoma in Individuals With First-degree Relatives Surgically Treated for the Disease
Bonnard A; Berglin CE; Wincent J; Eriksson PO; Westman E; Feychting M; Mogensen H
Journal article: PATHOLOGY. 2023;55:s19-s20
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: BIOMEDICINES. 2022;10(12):3171
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy
Vaz R; Wincent J; Elfissi N; Rosengren Forsblad K; Pettersson M; Naess K; Wedell A; Wredenberg A; Lindstrand A; Ygberg S
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: OPHTHALMIC GENETICS. 2022;43(2):172-183
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life
Fahnehjelm C; Kopp ED; Wincent J; Guven E; Nilsson M; Olsson M; Fahnehjelm KT
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: 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: TRANSLATIONAL PSYCHIATRY. 2020;10(1):312
Presynaptic dysfunction inCASK-related neurodevelopmental disorders
Becker M; Mastropasqua F; Reising JP; Maier S; Ho M-L; Rabkina I; Li D; Neufeld J; Ballenberger L; Myers L; Moritz V; Kele M; Wincent J; Willfors C; Sitnikov R; Herlenius E; Anderlid B-M; Falk A; Bolte S; Tammimies K
Preprint: BIORXIV. 2019
Presynaptic dysfunction inCASK-related neurodevelopmental disorders
Becker M; Mastropasqua F; Reising JP; Maier S; Ho M-L; Rabkina I; Li D; Neufeld J; Ballenberger L; Myers L; Moritz V; Kele M; Wincent J; Willfors C; Sitnikov R; Herlenius E; Anderlid B-M; Falk A; Bölte S; Tammimies K
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: 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
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
Article: PLOS GENETICS. 2018;14(11):e1007780
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Article: HUMAN MUTATION. 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: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2016;170(12):3069-3082
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
Fergelot P; Van Belzen M; Van Gils J; Afenjar A; Armour CM; Arveiler B; Beets L; Burglen L; Busa T; Collet M; Deforges J; de Vries BBA; Dominguez Garrido E; Dorison N; Dupont J; Francannet C; Garcia-Minaur S; Gabau Vila E; Gebre-Medhin S; Gener Querol B; Genevieve D; Gerard M; Gervasini CG; Goldenberg A; Josifova D; Lachlan K; Maas S; Maranda B; Moilanen JS; Nordgren A; Parent P; Rankin J; Reardon W; Rio M; Roume J; Shaw A; Smigiel R; Sojo A; Solomon B; Stembalska A; Stumpel C; Suarez F; Terhal P; Thomas S; Touraine R; Verloes A; Vincent-Delorme C; Wincent J; Peters DJM; Bartsch O; Larizza L; Lacombe D; Hennekam RC
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(1):39-45
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome
Wincent J; Luthman A; van Belzen M; van der Lans C; Albert J; Nordgren A; Anderlid B-M
Article: PLOS ONE. 2016;11(5):e0156088
Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women
Sahlin E; Nordenskjold M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2015;104(6):610-618
Rare copy number variants are common in young children with autism spectrum disorder
Eriksson MA; Lieden A; Westerlund J; Bremer A; Wincent J; Sahlin E; Gillberg C; Fernell E; Anderlid B-M
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2015;167(3):512-523
Copy Number Variations in Children with Brain Malformations and Refractory Epilepsy
Wincent J; Kolbjer S; Martin D; Luthman A; Amark P; Dahlin M; Anderlid B-M
Article: HUMAN GENETICS. 2014;133(8):997-1009
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
Schulz Y; Wehner P; Opitz L; Salinas-Riester G; Bongers EMHF; van Ravenswaaij-Arts CMA; Wincent J; Schoumans J; Kohlhase J; Borchers A; Pauli S
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: JOURNAL OF EXPERIMENTAL MEDICINE (JEM). 2013;210(12):2503-2513
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
Enervald E; Du L; Visnes T; Bojrkman A; Lindgren E; Wincent J; Borck G; Colleaux L; Cormier-Daire V; van Gent DC; Pie J; Puisac B; de Miranda NFCC; Kracker S; Hammarstrom L; de Villartay J-P; Durandy A; Schoumans J; Strom L; Pan-Hammarstrom Q
Journal article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2011;15:s14
1FC3.1 Submicroscopic chromosomal aberrations in children with cerebral malformations and refractory epilepsy
Kolbjer S; Wincent J; Dahlin M; Martin D; Åmark P; Anderlid B-M
Article: CLINICAL GENETICS. 2011;79(2):147-157
High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
Wincent J; Anderlid B-M; Lagerberg M; Nordenskjold M; Schoumans J
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(1):50-53
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
Wincent J; Schoumans J; Anderlid BM
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(4):271-272
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.
Wincent J; Schulze A; Schoumans J
Article: CLINICAL GENETICS. 2008;74(1):31-38
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
Wincent J; Holmberg E; Stromland K; Soller M; Mirzaei L; Djureinovic T; Robinson KL; Anderlid BM; Schoumans J
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(2):143-149
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
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Articles

Article: MOLECULAR SYNDROMOLOGY. 2010;1(5):246-254
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.
Wincent J; Bruno DL; van Bon BWM; Bremer A; Stewart H; Bongers EMHF; Ockeloen CW; Willemsen MH; Keays DDA; Baird G; Newbury DF; Kleefstra T; Marcelis C; Kini U; Stark Z; Savarirayan R; Sheffield LJ; Zuffardi O; Slater HR; de Vries BB; Knight SJL; Anderlid B-M; Schoumans J

All other publications

Published conference paper: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:429
Missense variant in PDK1 associated with severe developmental delay and epilepsy
Vaz R; Wincent J; Elfissi N; Forsblad K; Pettersson M; Naess K; Wedell A; Wreden-Berg A; Lindstrand A; Ygberg S
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
Genome Sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
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: MOLECULAR CYTOGENETICS. 2019;12
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Cheung SW; Victorino Krepischi AC; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:60
Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching
Nazaryan-Petersen L; Eisfeldt J; Lundin J; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Conference publication: 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
Conference publication: EPILEPSIA. 2014;55:12
GENE DOSE IMBALANCES IN CHILDREN WITH BRAIN MALFORMATIONS AND REFRACTORY EPILEPSY
Kolbjer S; Wincent J; Martin D; Luthman A; Amark P; Dahlin M; Anderlid B-M
Thesis / dissertation: 2012
Genetic studies of neurodevelopmental disorders
Wincent, Josephine
Review: LAKARTIDNINGEN. 2010;107(17):1144-1149
[Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis].
Anderlid B-M; Blennow E; Giacobini M; Nordgren A; Wincent J; Schoumans J; Nordenskjöld M

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Employments

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

Degrees and Education

University Medical Degree, Karolinska Institutet, 2013
Degree Of Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2012

Selected publications

Articles

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