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European Journal of Human Genetics (5)
Genetics in Medicine (4)
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Showing 1–10 of 10 results

Advanced filters: Author: Juliette Piard Clear advanced filters

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Camille Engel
Michaela Rendek
Juliette Piard
Research25 Jun 2025
European Journal of Human Genetics

P: 1-8
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.

Elsa Leitão
Christopher Schröder
Christel Depienne
ResearchOpen Access02 Nov 2022
Nature Communications

Volume: 13, P: 1-17
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette Piard
Lara Hawkes
Christophe Philippe
ResearchOpen Access25 Oct 2018
Genetics in Medicine

Volume: 21, P: 1308-1318
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron
Felice D’Arco
Cristina Dias
ResearchOpen Access24 Oct 2024
European Journal of Human Genetics

Volume: 33, P: 312-324
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette Piard
Lara Hawkes
Christophe Philippe
Amendments and CorrectionsOpen Access20 Feb 2019
Genetics in Medicine

Volume: 21, P: 1667-1671
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Alix Paulet
Cavan Bennett-Ness
Lyse Ruaud
Research15 Feb 2024
European Journal of Human Genetics

Volume: 32, P: 1144-1149
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Camille Engel
Stéphanie Valence
Juliette Piard
Research21 Jun 2023
European Journal of Human Genetics

Volume: 31, P: 1023-1031
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Alix Paulet
Cavan Bennett-Ness
Lyse Ruaud
Amendments and Corrections03 Apr 2024
European Journal of Human Genetics

Volume: 32, P: 1191
De novo SMARCA2 variants clustered outside the helicase ___domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Gerarda Cappuccio
Camille Sayou
Nicola Brunetti-Pierri
Research22 Jul 2020
Genetics in Medicine

Volume: 22, P: 1838-1850
A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut
Shana De Coninck
Bert Callewaert
Research18 Jul 2019
Genetics in Medicine

Volume: 22, P: 124-131