Alexandre Reymond
Université de Lausanne
H-index: 80
Europe-Switzerland
Top articles of Alexandre Reymond
Rare copy-number variants as modulators of common disease susceptibility
Genome Medicine
2024/1/8
Disentangling mechanisms behind the pleiotropic effects of proximal 16p11. 2 BP4-5 CNVs
medRxiv
2024
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Genetics in Medicine
2023/9/1
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
medRxiv
2024
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Human Molecular Genetics
2023/2/15
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
The American Journal of Human Genetics
2023/2/2
Copy-number variants as modulators of common disease susceptibility
medRxiv
2023
LGMDR1 with Prominent Limb-Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel CAPN3 Mutation: A Case Report.
touchREVIEWS in Neurology
2023/1/1
Alexandre Reymond
H-Index: 47
Author Correction: Possible association of 16p11. 2 copy number variation with altered lymphocyte and neutrophil counts
NPJ Genomic Medicine
2023
Giuliana Giannuzzi
H-Index: 10
Chiara Auwerx
H-Index: 1
Kendra Hoekzema
H-Index: 18
Eleonora Porcu
H-Index: 34
Alexandre Reymond
H-Index: 47
Dissecting the autism-associated 16p11. 2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
Genome Biology
2023/11/15
Chromosomal deletions on 16p11. 2 encompassing SH2B1 are associated with accelerated metabolic disease
Cell Reports Medicine
2023/8/15
Possible association of 16p11. 2 copy number variation with altered lymphocyte and neutrophil counts (vol 7, 38, 2022)
NPJ Genomic Medicine
2022/6/17
Giuliana Giannuzzi
H-Index: 10
Chiara Auwerx
H-Index: 1
Kendra Hoekzema
H-Index: 18
Eleonora Porcu
H-Index: 34
Alexandre Reymond
H-Index: 47
Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations
Epigenetics & Chromatin
2023/5/19
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11. 2 autism patients
2023/5/13
Alexandre Reymond
H-Index: 47
Deamination of adenine to guanine is a signature of oxidative damage in mitochondrial DNA
European Journal Of Human Genetics
2023/5/11
Mapping active regulatory signals at early embryonic stage of face development
EUROPEAN JOURNAL OF HUMAN GENETICS
2023/5/11
Secondary structure of the human mitochondrial genome affects formation of deletions
BMC biology
2023/5/8
Irina Gostimskaya
H-Index: 8
Wolfram S Kunz
H-Index: 41
Alexandre Reymond
H-Index: 47
Jacques Fellay
H-Index: 43
Konstantin Popadin
H-Index: 17
A biallelic truncating variant in the TPR domain of GEMIN5 associated with intellectual disability and cerebral atrophy
Genes
2023/3/13
Francesca Mattioli
H-Index: 1
Nicolas Guex
H-Index: 26
Muhammad Ansar
H-Index: 0
Alexandre Reymond
H-Index: 47
Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations
Elife
2023/3/9
Chiara Auwerx
H-Index: 1
Alexandre Reymond
H-Index: 47
Zoltán Kutalik
H-Index: 76
Eleonora Porcu
H-Index: 34
Correction to: Reply to Letter by Tellier et al.,‘Scientific refutation of ESHG statement on embryo selection’
European Journal of Human Genetics
2023/3
Yalda Jamshidi
H-Index: 25
Yves Moreau
H-Index: 39
Inga Prokopenko
H-Index: 76
Andrew Read
H-Index: 8
Alexandre Reymond
H-Index: 47
