Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Valerie Jacquemin; Nassim Versbraegen; Sarah Duerinckx; Annick Massart; Julie Soblet; Camille Perazzolo; Nicolas Deconinck; Elise Brischoux-Boucher; Anne De Leener; Nicole Revencu; Sandra Janssens; Stephanie Moorgat; Bettina Blaumeiser; Kristiina Avela; Renaud Touraine; Imad Abou Jaoude; Kathelijn Keymolen; Pascale Saugier-Veber; Tom Lenaerts; Marc Abramowicz; Isabelle Pirson

doi:10.1186/s40246-023-00464-w

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stephanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc AbramowiczIsabelle Pirson

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Artikkeli	16
Lehti	Human Genomics
Vuosikerta	17
Numero	1
Sivumäärä	14
ISSN	1473-9542
DOI - pysyväislinkit	https://doi.org/10.1186/s40246-023-00464-w
Tila	Julkaistu - 2 maalisk. 2023
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

Cilia
Congenital hydrocephalus
Exome sequencing
Mutation burden test
Oligogenic inheritance
3111 Biolääketieteet
1184 Genetiikka, kehitysbiologia, fysiologia

Pääsy asiakirjaan

10.1186/s40246-023-00464-w

s40246-023-00464-wLopullinen julkaistu versio, 2,21 MBLisenssi: CC BY

Siteeraa tätä

Jacquemin, V., Versbraegen, N., Duerinckx, S., Massart, A., Soblet, J., Perazzolo, C., Deconinck, N., Brischoux-Boucher, E., De Leener, A., Revencu, N., Janssens, S., Moorgat, S., Blaumeiser, B., Avela, K., Touraine, R., Abou Jaoude, I., Keymolen, K., Saugier-Veber, P., Lenaerts, T., ... Pirson, I. (2023). Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human Genomics, 17(1), Artikkeli 16. https://doi.org/10.1186/s40246-023-00464-w

@article{99260d3598cb4720ad28588330e35157,

title = "Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance",

keywords = "Cilia, Congenital hydrocephalus, Exome sequencing, Mutation burden test, Oligogenic inheritance, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Valerie Jacquemin and Nassim Versbraegen and Sarah Duerinckx and Annick Massart and Julie Soblet and Camille Perazzolo and Nicolas Deconinck and Elise Brischoux-Boucher and {De Leener}, Anne and Nicole Revencu and Sandra Janssens and Stephanie Moorgat and Bettina Blaumeiser and Kristiina Avela and Renaud Touraine and {Abou Jaoude}, Imad and Kathelijn Keymolen and Pascale Saugier-Veber and Tom Lenaerts and Marc Abramowicz and Isabelle Pirson",

year = "2023",

month = mar,

day = "2",

doi = "10.1186/s40246-023-00464-w",

language = "English",

volume = "17",

journal = "Human Genomics",

issn = "1473-9542",

publisher = "BioMed Central",

number = "1",

}

Jacquemin, V, Versbraegen, N, Duerinckx, S, Massart, A, Soblet, J, Perazzolo, C, Deconinck, N, Brischoux-Boucher, E, De Leener, A, Revencu, N, Janssens, S, Moorgat, S, Blaumeiser, B, Avela, K, Touraine, R, Abou Jaoude, I, Keymolen, K, Saugier-Veber, P, Lenaerts, T, Abramowicz, M & Pirson, I 2023, 'Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance', Human Genomics, Vuosikerta 17, Nro 1, 16. https://doi.org/10.1186/s40246-023-00464-w

TY - JOUR

T1 - Congenital hydrocephalus

T2 - new Mendelian mutations and evidence for oligogenic inheritance

AU - Jacquemin, Valerie

AU - Versbraegen, Nassim

AU - Duerinckx, Sarah

AU - Massart, Annick

AU - Soblet, Julie

AU - Perazzolo, Camille

AU - Deconinck, Nicolas

AU - Brischoux-Boucher, Elise

AU - De Leener, Anne

AU - Revencu, Nicole

AU - Janssens, Sandra

AU - Moorgat, Stephanie

AU - Blaumeiser, Bettina

AU - Avela, Kristiina

AU - Touraine, Renaud

AU - Abou Jaoude, Imad

AU - Keymolen, Kathelijn

AU - Saugier-Veber, Pascale

AU - Lenaerts, Tom

AU - Abramowicz, Marc

AU - Pirson, Isabelle

PY - 2023/3/2

Y1 - 2023/3/2

KW - Cilia

KW - Congenital hydrocephalus

KW - Exome sequencing

KW - Mutation burden test

KW - Oligogenic inheritance

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1186/s40246-023-00464-w

DO - 10.1186/s40246-023-00464-w

M3 - Article

C2 - 36859317

SN - 1473-9542

VL - 17

JO - Human Genomics

JF - Human Genomics

IS - 1

M1 - 16

ER -