SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Valérie Belin, Véronica Cusin, Géraldine Viot, +7

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsHistopathologyPathology +3

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou, +20

Human Mutation

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

Hélène De Leersnyder, Marie‐Christine de Blois, Bruno Claustrat, +8

The Journal of Pediatrics

ChronobiologyMedicinePineal GlandCircadian RhythmSmith-magenis Syndrome +1

Antenatal manifestations of mitochondrial respiratory chain deficiency

Jürgen‐Christoph von Kleist-Retzow, Valérie Cormier‐Daire, Géraldine Viot, +12

The Journal of Pediatrics

Mitochondrial BiogenesisMitochondrial FunctionPhysiologyPediatricsMaternal Health +4

Natural history of Barth syndrome: a national cohort study of 22 patients

Charlotte Rigaud, Anne-Sophie Lèbre, Renaud Touraine, +16

Orphanet Journal of Rare Diseases

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, +49

European Journal of Human Genetics

GeneticsGenotype–phenotype CorrelationMolecular GeneticsGenomicsMedicine +1

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

Laurence Iserin, Pascale de Lonlay, Géraldine Viot, +6

European Journal of Pediatrics

Heart FailureNewborn InfantsPediatric Heart DiseasePediatricsCongenital Heart Defect +5

Spectrum of<i>MKS1</i>and<i>MKS3</i>mutations in Meckel syndrome: a genotype-phenotype correlation

Rana Khaddour, Ursula M. Smith, Lekbir Baala, +29

Human Mutation

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Hiromi Hirata, Indrajit Nanda, Anne van Riesen, +40

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology +7

Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Frédéric Brioude, Irène Netchine, Françoise Praz, +28

Human Mutation