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1 . Academic Journal
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
저자
by
de Masfrand, Servane
;
Cogné, Benjamin
;
Nizon, Mathilde
;
Deb, Wallid
;
Goldenberg, Alice
, et al.
소스
In
European Journal of Medical Genetics
June 2024 69
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7 . Academic Journal
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
저자
by
Lecoquierre, François
;
Punt, A. Mattijs
;
Ebstein, Frédéric
;
Wallaard, Ilse
;
Verhagen, Rob
, et al.
소스
In
Genetics in Medicine
June 2024 26(6)
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7 . Academic Journal
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
저자
by
Tessarech, Marine
;
Friocourt, Gaëlle
;
Marguet, Florent
;
Lecointre, Maryline
;
Le Mao, Morgane
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
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7 . Academic Journal
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
저자
by
Nishio, Yosuke
;
Kato, Kohji
;
Tran Mau-Them, Frederic
;
Futagawa, Hiroshi
;
Quélin, Chloé
, et al.
소스
In
Human Genetics and Genomics Advances
12 October 2023 4(4)
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7 . Academic Journal
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
저자
by
Denommé-Pichon, Anne-Sophie
;
Collins, Stephan C.
;
Bruel, Ange-Line
;
Mikhaleva, Anna
;
Wagner, Christel
, et al.
소스
In
Genetics in Medicine
July 2023 25(7)
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7 . Academic Journal
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
저자
by
Bogaert, Elke
;
Garde, Aurore
;
Gautier, Thierry
;
Rooney, Kathleen
;
Duffourd, Yannis
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):790-808
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
저자
by
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
;
Jangjoo, Maryam
;
Adam, Margaret P.
, et al.
소스
In
The American Journal of Human Genetics
6 October 2022 109(10):1867-1884
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7 . Academic Journal
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
저자
by
Boer, Elke de
;
Cohen, Enzo
;
Cuesta, Isabel
;
Danis, Daniel
;
Denommé-Pichon, Anne-Sophie
, et al.
소스
In
European Journal of Medical Genetics
January 2022 65(1)
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7 . Academic Journal
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
저자
by
Thomas, Quentin
;
Gautier, Thierry
;
Marafi, Dana
;
Besnard, Thomas
;
Willems, Marjolaine
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1901-1911
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