Adeline Jacquinet

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

Cas Simons, Lachlan D. Rash, Joanna Crawford et al. · Nature Genetics · 2014 · 156 citations

Channelopathies, Hyperpolarization (Biology), Neurophysiology +8

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

Diana Alcantara, Andrew E. Timms, Karen W. Gripp et al. · Brain · 2017 · 110 citations · Full text

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

Tariq Zaman, Katherine L. Helbig, Jérôme Clatot et al. · Annals of Neurology · 2020 · 93 citations · Full text

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

Kosuke Izumi, Maggie Brett, Eriko Nishi et al. · The American Journal of Human Genetics · 2016 · 83 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

<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 et al. · Clinical Genetics · 2020 · 71 citations · Full text