Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Cas Simons, Lachlan D. Rash, Joanna Crawford, +19

Nature Genetics

ChannelopathiesHyperpolarization (Biology)NeurophysiologyPhysiologyIon Channels +6

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Diana Alcantara, Andrew E. Timms, Karen W. Gripp, +30

Brain

<scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, +33

Annals of Neurology

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi, Maggie Brett, Eriko Nishi, +21

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsCopi-mediated Transport Defects +4

<scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome

Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, +11

Clinical Genetics

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene

Adeline Jacquinet, Alain Verloès, Bert Callewaert, +11

European Journal of Medical Genetics

Marfan SyndromeMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +5

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

Ilse Luyckx, Gretchen MacCarrick, Marlies Kempers, +19

European Journal of Human Genetics

Cardiovascular DiseasePathogenic Smad6 VariantsPathogenesisPathologyValve Disease +6

Population-based, first-tier genomic newborn screening in the maternity ward

François Boemer, Kristine Hovhannesyan, Flávia Piazzon, +13

Nature Medicine

Oligo-astrocytoma in LZTR1-related Noonan syndrome

Adeline Jacquinet, Adeline Bonnard, Yline Capri, +7

European Journal of Medical Genetics

Neuro-oncologyMendelian DisorderGenetic DisorderLztr1-related Noonan SyndromeHistopathology +5

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

Aimé Lumaka, Corinne Fasquelle, François‐Guillaume Debray, +13

International Journal of Molecular Sciences

Genetic EpidemiologyGenomicsHigh Throughput SequencingHighest Rwgs YieldsCritical Care Medicine +17