NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 759 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

Giles S.H. Yeo, Chiao-Chien Connie Hung, Justin J. Rochford et al. · Nature Neuroscience · 2004 · 602 citations

Life Sciences, Genetics, Molecular Genetics +14

Loss of Shp2 Rescues BDNF/TrkB Signaling and Contributes to Improved Retinal Ganglion Cell Neuroprotection

Nitin Chitranshi, Yogita Dheer, Mehdi Mirzaei et al. · Molecular Therapy · 2018 · 60 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17

Antiseizure effects of TrkB kinase inhibition

Gumei Liu, Robert J. Kotloski, James O McNamara · Epilepsia · 2014 · 28 citations · Full text

Medicine, Neuroscience, Pharmacology +17