Timothy Moss

Pathogenic mechanism of recurrent mutations of <scp><i>SCN8A</i></scp> in epileptic encephalopathy

Jacy L. Wagnon, Bryan S. Barker, James A. Hounshell et al. · Annals of Clinical and Translational Neurology · 2015 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen et al. · Biological Psychiatry · 2018 · 91 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Effects of eight neuropsychiatric copy number variants on human brain structure

Claudia Modenato, Kuldeep Kumar, Clara Moreau et al. · Translational Psychiatry · 2021 · 47 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Najim Lahrouchi, Alex V. Postma, Christian Salazar et al. · Journal of Clinical Investigation · 2021 · 27 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Early childhood presentation of Czech dysplasia

Lindsay C. Burrage, James T. Lu, David S. Liu et al. · Clinical Dysmorphology · 2013 · 11 citations · Full text

Medicine, Pediatrics, Human Genetics +10