About

Yong-Hui Jiang, MD, PhD, is a Professor of Genetics and the Dorys McConnell Duberg Professor of Neuroscience at Yale School of Medicine. He serves as the Chief of Medical Genetics and Vice Chair of the Department of Genetics. His role involves leading efforts in medical genetics, contributing to the advancement of genomic medicine and clinical genetics research. As a key figure in Yale's genetics community, he is involved in integrating genetic research with clinical practice, aiming to improve diagnosis and treatment of genetic disorders.

Research topics

• Genetics
• Developmental psychology
• Psychology
• Computational biology
• Neuroscience
• Clinical psychology
• Biology

Selected publications

• Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate Genes

  medRxiv (Cold Spring Harbor Laboratory) · 2024

  • Genetics
  • Computational biology
  • Biology

  Abstract Epilepsy, a prevalent neurodevelopmental disorder in children, is often accompanied by detrimental psychological consequences and other comorbidities. We performed exome sequencing on 963 patient-parent trios, revealing differences in genetic epidemiology between Chinese and European epilepsy cohorts. The diagnostic yield for known epilepsy genes was 40%. Pathogenic variants were most commonly found in SCN1A, KCNQ2, and DEPDC5. Additionally, we identified 15 novel monogenic epilepsy candidates in at least two patients diagnosed with developmental and epileptic encephalopathy, non-acquired focal epilepsy, or genetic generalized epilepsy, including ADCY2, BCAR3, CDC45, CHRNG, CRTC2, CSMD1, CSMD2, KDM6B, KIF1B, PLEKHM3, PPP4R1, RASGRP2, SGSM2, SYNE1 , and ZFHX3 . Aside from ADCY2 , which was implicated in the GABAergic synapse pathway based on KEGG analysis, these candidates do not belong to known epilepsy pathways. Local field potential recordings in zebrafish and calcium imaging experiments validated associations for 11 of these genes, excluding those unsuitable for functional analyses. Furthermore, we found that CRTC2 overexpression leads to hippocampal neuronal hyperactivity using multi-electrode arrays and electrophysiology. We have documented the first-line medications prescribed for patients harboring variants in the novel candidate genes. This study expands our understanding of the genetic underpinnings of epilepsy and provides opportunities for early diagnosis and personalized medicine approaches.

  DOI

• Brain-wide electrical dynamics encode individual appetitive social behavior

  Neuron · 2022 · 44 citations

  • Neuroscience
  • Psychology
  • Cognitive psychology
  PublisherOA PDFDOI

• Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis

  Autism · 2021 · 8 citations

  • Psychology
  • Clinical psychology
  • Developmental psychology

  LAY ABSTRACT: The Autism Spectrum Rating Scale is a behavioural rating scale completed by parents and teachers that is useful for identifying children with an autism spectrum disorder. The development of a modified Autism Spectrum Rating Scale suitable for use in China is important for the identification of children in China with an autism spectrum disorder. In this study, we examined the Modified Chinese Autism Spectrum Rating Scale using a statistical technique known as Rasch analysis. Rasch analysis tests whether the questionnaire meets the standards for modern scientific measurement. We used Rasch analysis to examine data from 2013 children in China including 420 diagnosed with an autism spectrum disorder who had been rated by a parent or grandparent. After removing a small number of items (questions), the Modified Chinese Autism Spectrum Rating Scale met the stringent criteria for Rasch measurement. The availability of a reliable and precise tool for assessing behaviours characteristic of an autism spectrum disorder in Chinese children will improve the identification and diagnosis of autism spectrum disorder in China, thus enabling better provision of support services.

  DOI

• Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

  Genetics in Medicine · 2020 · 43 citations

  • Computer Science
  • Medicine
  • Computational biology
  PublisherOA PDFDOI

• De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

  The American Journal of Human Genetics · 2020 · 69 citations

  • Biology
  • Genetics
  • Internal medicine
  DOI

• Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

  Genetics in Medicine · 2020 · 48 citations

  • Medicine
  • Bioinformatics
  • Genetics
  DOI

Recent grants

• A novel neural circuit analysis paradigm to model autism in mice

  NIH · $435k · 2014–2017

• Epigenetic Therapy and Prader-Willi Syndrome

  NIH · $2.8M · 2019–2024

• Analysis of Shank3 Complete and Temporal and Spatial Specific Knockout Mice

  NIH · $2.2M · 2012–2018

• Molecular and circuitry mechanism underlying autism behaviors in Shank3 mouse models

  NIH · $3.2M · 2019–2023

• Characterizing the (epi)genetics of oxytocin response in clinical and animal models

  NIH · $2.9M · 2017–2024

Frequent coauthors

• William C. Wetsel

  Duke University

  22 shared

• Arthur L. Beaudet

  11 shared

• Ramona M. Rodriguiz

  Duke University Hospital

  8 shared

• Xuerong Luo

  Central South University

  7 shared

• Jan Bressler

  Institute for Neurodegenerative Disorders

  6 shared

• Xiaobing Zou

  Chongqing University of Education

  6 shared

• Ting‐Fen Tsai

  5 shared

• Éric Fombonne

  5 shared

Education

• Ph.D., Genetics

  University of California, San Francisco

  1995

• M.D., Medicine

  University of California, San Francisco

  1991

• B.S., Genetics

  University of California, San Francisco

  1987

Similar researchers at Yale University

• Mark Gersteinh-217
• Liangbing Huh-172
• Akiko Iwasakih-145
• Alan Kazdinh-142
• Douglas L. Rothmanh-125