Q. Thomas

发表

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

One NF1 Mutation may Conceal Another

E. Pasmant, M. Vidaud, I. Laurendeau, 2019, Genes.

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.

Alison M. Male, J. Baptista, K. Gripp, 2021, Cell reports.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, Clinical genetics.

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients

L. Faivre, Quentin Thomas, C. Philippe, 2022, The Pharmacogenomics Journal.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

J. Rosenfeld, P. Striano, F. Zara, 2022, American journal of human genetics.

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

H. Hakonarson, Yiran Guo, S. Sandaradura, 2023, Neurology: Genetics.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Y. Béjot, M. Giroud, L. Faivre, 2021, Journal of the Neurological Sciences.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, American journal of human genetics.

A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.

Y. Béjot, L. Faivre, Quentin Thomas, 2022, Alzheimer disease and associated disorders.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.

H. Warren, P. Blackburn, L. Ousager, 2022, European journal of medical genetics.

Nucleocytoplasmic Transport of RNA-Binding Proteins Regulates Neural Stem Cell Fates

K. Gripp, X. Wei, A. Innes, 2020 .