Salman Kirmani

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Spontaneous coronary artery dissection and its association with heritable connective tissue disorders

Stanislav Henkin, Sara Negrotto, Marysia S. Tweet et al. · Heart · 2016 · 165 citations

Medicine, Cardiology, Genetics +17

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

Effects of age on bone mRNA levels of sclerostin and other genes relevant to bone metabolism in humans

Matthew M. Roforth, Koji Fujita, Ulrike McGregor et al. · Bone · 2013 · 119 citations

Medicine, Endocrinology, Aging +13

Fragile X syndrome due to a missense mutation

Leila K. Myrick, Mika Nakamoto-Kinoshita, Noralane M. Lindor et al. · European Journal of Human Genetics · 2014 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14