R. Stoeva

发表

Three cases of two unrelated families with a microduplication 22q11.2: developmental skull defects and phenotype variability

Jean-Pierre Fryns, J. Fryns, C. Darnfors, 2011 .

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

P. Robinson, K. Devriendt, J. Vermeesch, 2014, PLoS genetics.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

J. Fryns, M. Kirchhoff, C. Fagerberg, 2009, American journal of medical genetics. Part A.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

M. Fichera, S. Girirajan, C. Bénéteau, 2023, American journal of human genetics.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.