Yong‐Hui Jiang

SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons

Qingjian Han, Yong Ho Kim, Xiaoming Wang et al. · Neuron · 2016 · 181 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16

Neonatal nonepileptic myoclonus is a prominent clinical feature of <i><scp>KCNQ</scp>2</i> gain‐of‐function variants R201C and R201H

Sarah B. Mulkey, Bruria Ben‐Zeev, Joost Nicolai et al. · Epilepsia · 2017 · 106 citations · Full text

Medicine, Genetics, Neurology +17

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Rebecca C. Spillmann, Allyn McConkie‐Rosell, Loren Peña et al. · Orphanet Journal of Rare Diseases · 2017 · 94 citations · Full text

Humanities, Child Health, Narrative Studies +12

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Allyn McConkie‐Rosell, Stephen R. Hooper, Loren Peña et al. · Journal of Genetic Counseling · 2018 · 76 citations · Full text

Nursing, Child Health, Psychology +16

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch et al. · Genetics in Medicine · 2017 · 52 citations

Life Sciences, Genetics, Molecular Genetics +16