Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd, +58

Genetics in Medicine

Molecular DiagnosisGenetic TestingMendelian DisorderGenetic DisorderMedicine +7

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, +59

npj Genomic Medicine

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Affef Abidi, Jérôme Devaux, Florence Molinari, +21

Neurobiology of Disease

Epileptic EncephalopathyChannelopathiesMolecular PhysiologyHyperpolarization (Biology)Neurophysiology +10

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, +25

Genetics in Medicine

New Candidate GenesMendelian DisorderGenetic DisorderExome SequencingGenetics +8

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady, +81

Nature Communications

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, +72

Genetics in Medicine

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Friederike Petzold, Katy Billot, Xiaoyi Chen, +323

Kidney International

<i>NR4A2</i> haploinsufficiency is associated with intellectual disability and autism spectrum disorder

Jonathan Lévy, Sarah Grotto, Cyril Mignot, +12

Clinical Genetics

Brain DevelopmentGeneticsDisabilityDisease Gene IdentificationDevelopmental Disabilities +18

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide, Boris Keren, Thierry Billette de Villemeur, +27

The Journal of Pediatrics

Corpus Callosum AbnormalityNeurological DisorderAphasiaNeurologyNeuroscience +2

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Elizabeth Bhoj, Damien Haye, Annick Toutain, +24

European Journal of Medical Genetics

Molecular Diagnostic TechniquesOpitz GbbbBaraitser-winter SyndromesCritical ReviewGenetic Disorder +11