Nadine Jalkh

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the <i>RECQL4</i> gene

Lionel Van Maldergem, H. Annika Siitonen, Nadine Jalkh et al. · Journal of Medical Genetics · 2005 · 217 citations · Full text

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

Ippei Okada, Haruka Hamanoue, Koji Terada et al. · The American Journal of Human Genetics · 2010 · 116 citations · Full text

Knockout Mouse, Developmental Biology, Ophthalmology +8

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Periklis Makrythanasis, Mari Nelis, Federico Santoni et al. · Human Mutation · 2014 · 85 citations

Array Cgh, Rare Diseases, Mendelian Disorder +15

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

Virginie Laurier, Corinne Stoetzel, Jean Muller et al. · European Journal of Human Genetics · 2006 · 62 citations · Full text

Homozygosity Mapping, Extended Consanguineous Bardet–biedl, Mendelian Disorder +13