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Xavier Blanc
Observed name:
Blanc, Xavier
Observed institution:
University of Geneva
ORCID:
0000-0002-2554-3090
Observed ORCID:
0000-0002-2554-3090
OpenAlex ID:
A5078309170
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts
2018
·
Marco Garieri
, Georgios Stamoulis
, et al.
·
Proceedings of the National Academy of Sciences
·
101
PDF
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
2021
·
Lance H. Rodan
, Rebecca C. Spillmann
, et al.
·
Genetics in Medicine
·
49
PDF
FOXI3 pathogenic variants cause one form of craniofacial microsomia
2023
·
Ke Mao
, Christelle Borel
, et al.
·
Nature Communications
·
36
PDF
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
2020
·
Toshiyuki Itai
, Kohei Hamanaka
, et al.
·
Human Mutation
·
34
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
2021
·
Audrey Schalk
, Margot A. Cousin
, et al.
·
Journal of Medical Genetics
·
32
PDF
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
2022
·
Maria Lucia Cediel
, Michal Stawarski
, et al.
·
The American Journal of Human Genetics
·
31
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
2022
·
Sébastien Küry
, Jinwei Zhang
, et al.
·
Genetics in Medicine
·
15
PDF
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
2024
·
Pascale Sabeh
, Samantha A. Dumas
, et al.
·
The American Journal of Human Genetics
·
10
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
2022
·
Marije Meuwissen
, Aline Verstraeten
, et al.
·
Genetics in Medicine
·
10
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
2025
·
Esra Erkut
, Cherith Somerville
, et al.
·
The American Journal of Human Genetics
·
3
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
2021
·
Lance H. Rodan
, Rebecca C. Spillmann
, et al.
·
Genetics in Medicine
·
2
Ciz1- Loss Causes Female-specific Autosomal Neurodevelopmental Disorder Through Defective X-inactivation Maintenance
2025
·
Thomas Besnard
, Agnese Loda
, et al.
·
medRxiv
·
1
PDF
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
2024
·
Marina Eskin-Schwartz
, Shaikah Seraidy
, et al.
·
Journal of Medical Genetics
·
1
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy
2026
·
Donald R. Latner
, Susan M. Hiatt
, et al.
·
American Journal of Medical Genetics Part A
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
2026
·
Esra Erkut
, Cherith Somerville
, et al.
·
The American Journal of Human Genetics
PDF
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Works count:
16
Citation count:
325
H-index:
9
I10-index:
9
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