Vikas Bhambhani

Ethical and Policy Issues in Genetic Testing and Screening of Children

Mary E. Fallat, Aviva L. Katz, Mark R. Mercurio et al. · PEDIATRICS · 2013 · 393 citations

Life Sciences, Genetics, Pediatrics +17

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Katia Hardies, Yiying Cai, Claude Jardel et al. · Brain · 2016 · 83 citations · Full text

Life Sciences, Genetics, Neurology +17

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

Cindy Li, Ankit K. Desai, Punita Gupta et al. · Genetics in Medicine · 2021 · 57 citations · Full text

Medicine, Immunology, Pediatrics +16

<i><scp>SLC</scp>6A1</i>variants identified in epilepsy patients reduce γ‐aminobutyric acid transport

Kari A. Mattison, Kameryn M. Butler, George Andrew S. Inglis et al. · Epilepsia · 2018 · 55 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16