Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Isabelle Audo, Kinga M. Bujakowska, Thierry Léveillard, +10

Orphanet Journal of Rare Diseases

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Christina Zeitz, Samuel G. Jacobson, Christian Hamel, +22

The American Journal of Human Genetics

Mendelian DisorderOphthalmologyGenetic DisorderMedicineGenetics +3

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, +49

The American Journal of Human Genetics

Ocular DiseaseDevelopmental BiologyMendelian DisorderOphthalmologyGenetic Disorder +4

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant, +11

Orphanet Journal of Rare Diseases

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Christel Depienne, Delphine Bouteiller, Aurélie Méneret, +22

The American Journal of Human Genetics

OphthalmologyGenetic DisorderMotor ControlStereotypic Movement DisorderMotor Disorder

Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism

Anne Philippi, Elke Roschmann, Frédéric Torès, +13

Molecular Psychiatry

Syndromic AutismProtein Kinase C-betaGeneticsGenetic DisorderAutism +6

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

Saïd El Shamieh, Marion Neuillé, Angélique Terray, +15

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsAutosomal-recessive Rod-cone DystrophyPathology +5

Targeted Next Generation Sequencing Identifies Novel Mutations in<i>RP1</i>as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

Saïd El Shamieh, Élise Boulanger-Scemama, Marie‐Elise Lancelot, +9

BioMed Research International

Relatively Common CauseOcular DiseaseMendelian DisorderOphthalmologyGenetic Disorder +13

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family

Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, +19

Human Molecular Genetics

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

Élise Boulanger-Scemama, Saddek Mohand‐Saïd, Saïd El Shamieh, +10

International Journal of Molecular Sciences