A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia, +89

Nature

ObesityMetabolic SyndromeChildhood ObesityDevelopmental BiologyMetabolic Disorder +7

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, +177

Nature

Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2 +6

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, +26

Nature Genetics

NeuropsychologyLanguage DisorderGrin2a MutationsSpeech Fluency DisorderAcquired Aphasia +9

Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Patrick Edery, Charles Marcaillou, Mourad Sahbatou, +16

Science

Disruption of a long distance regulatory region upstream of <i>SOX9</i> in isolated disorders of sex development

Sabina Benko, Christopher T. Gordon, Delphine Mallet, +21

Journal of Medical Genetics

Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, +13

Epilepsia

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard, Bruno Delobel, Damien Sanlaville, +19

European Journal of Medical Genetics

Genetic DisorderGeneticsEvolutionary BiologyChromosomal RearrangementsArray Cgh Study +5

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier, +31

Clinical Genetics

PsychiatryScientific Data ManagementCosmologyGeneticsSyndromic Autism +10

Functional variants of POC5 identified in patients with idiopathic scoliosis

Patricia Margaritte‐Jeannin, Jean‐Claude Bernard, Eudéline Alix, +24

Journal of Clinical Investigation

Spinal Cord InjuryGenetic DisorderGeneticsIdiopathic ScoliosisGenetic Epidemiology +11

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

Caroline Schluth‐Bolard, Audrey Labalme, Marie‐Pierre Cordier, +10

Journal of Medical Genetics