Victor Murcia Pienkowski

Evidence for <i>HNRNPH1</i> being another gene for Bain type syndromic mental retardation

Jacek Pilch, Agnieszka Koppolu, Anna Walczak et al. · Clinical Genetics · 2018 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Małgorzata Rydzanicz, Małgorzata Wachowska, Erik C. Cook et al. · European Journal of Human Genetics · 2018 · 43 citations

Life Sciences, Molecular Genetics, Neuroscience +10

<i>De novo</i> stop-loss variants in <i>CLDN11</i> cause hypomyelinating leukodystrophy

Korbinian M. Riedhammer, Sylvia Stöckler, Maren Wenzel et al. · Brain · 2020 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Muhammad A. Usmani, Zubair M. Ahmed, Pamela Magini et al. · The American Journal of Human Genetics · 2021 · 28 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

Agnieszka Pollak, Urszula Lechowicz, Victor Murcia Pienkowski et al. · BMC Medical Genetics · 2017 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16