De novo variants in KDM2A cause a syndromic neurodevelopmental disorder - virtual

被引：0

作者：

Platzer, Konrad ^{[1
]}

Anderson, Eric ^{[2
]}

Kour, Sukhleen ^{[2
]}

Rajan, Deepa ^{[2
]}

Schoennagel, Senta ^{[1
]}

Pilgram, Laura-Marie ^{[1
]}

Stals, Karen ^{[3
]}

Donnelly, Deirdre ^{[4
]}

O'Sullivan, Siobhan ^{[5
]}

Mantovani, John ^{[6
]}

Zacher, Pia ^{[7
]}

Chatron, Nicolas ^{[8
]}

Monin, Pauline ^{[8
]}

Drunat, Severine ^{[9
]}

Cohen, Julie ^{[10
]}

McWalter, Kirsty ^{[11
]}

Sanchez-Lara, Pedro ^{[12
]}

Grand, Katheryn ^{[12
]}

Kim, Hyung-Goo ^{[13
]}

Belles, Rebecca ^{[14
]}

Lichtenbelt, Klaske D. ^{[15
]}

Rauch, Anita ^{[16
]}

Ivanovski, Ivan ^{[16
]}

Thiffault, Isabelle ^{[17
]}

Mau-Them, Frederic Tran ^{[18
]}

Garde, Aurore ^{[19
]}

Rabin, Rachel ^{[20
]}

Pappas, John ^{[20
]}

Radtke, Maximilian ^{[1
]}

Drukewitz, Stephan ^{[1
]}

Mefford, Heather ^{[21
]}

Hentschel, Julia ^{[1
]}

Pandey, Udai ^{[2
]}

机构：

[1] Univ Leipzig, Inst Human Genet, Med Ctr, Leipzig, Germany

[2] Univ Pittsburgh, Childrens Hosp Pittsburgh, Dept Pediat, Med Ctr, Pittsburgh, PA USA

[3] Royal Devon & Exeter NHS Fdn Trust, Exeter Genom Lab, Exeter, Devon, England

[4] Belfast City Hosp, Belfast Hlth & Social Care Trust, Northern Ireland Reg Genet Ctr, Belfast, Antrim, North Ireland

[5] Royal Belfast Hosp Sick Children, Belfast Hlth & Social Care Trust, Dept Paediat Metab Med, Belfast, Antrim, North Ireland

[6] Washington Univ, Div Child Neurol, Sch Med, St Louis, MO USA

[7] Epilepsy Ctr Kleinwachau, Radeberg, Germany

[8] Hosp Civils Lyon, Dept Med Genet, Lyon, France

[9] Hop Univ Robert Debre, Dept Genet, Paris, France

[10] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD USA

[11] GeneDx, Gaithersburg, MD USA

[12] Cedars Sinai Med Ctr, Dept Pediat, Div Med Genet, Los Angeles, CA USA

[13] Hamad Bin Khalifa Univ, Qatar Biomed Res Inst, Neurol Disorders Res Ctr, Doha, Qatar

[14] Geisinger Hlth Syst, Med Genet, Danville, PA USA

[15] Univ Med Ctr Utrecht, Dept Genet, Untrecht, Netherlands

[16] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[17] Childrens Mercy Hosp, Genom Med Ctr, Kansas City, MO USA

[18] Univ Bourgogne Franche Comte, Equipe Genet Anomalies Dev, INSERM UMR1231, Dijon, France

[19] Ctr Hosp Univ Dijon, FHU TRANSLAD, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France

[20] NYU Grossman Sch Med, Dept Pediat, New York, NY USA

[21] St Jude Childrens Res Hosp, Ctr Pediat Neurol Dis Res, Memphis, TN USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C01.5

引用

页码：8 / 9

页数：2

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