Chen Zhao, PhD, FACMG
Assistant ProfessorCards
Appointments
Contact Info
Genetics
333 Cedar St
New Haven, CT 06510
United States
About
Titles
Assistant Professor
Biography
Dr. Zhao is an assistant professor at Genetics at Yale School of Medicine. Dr. Zhao’s primary role is an assistant director in the DNA diagnostics lab where he serves to analyze genomic data for patients with various conditions, signs genetic testing lab reports, and supervises the development and implementation of new CLIA compliant testing protocols. In addition to his routine clinical duty, Dr. Zhao is interested to use genomic approaches including various sequencing technologies in diagnosing and understanding various rare diseases with genetic etiologies.
Dr. Zhao received his Ph.D. in Genetics at SUNY & Stony Brook in 2007, where he studied Rasopathies in the laboratory of Dr. Dafna Bar-Sagi. He then completed his Susan G-Komen sponsored postdoctoral training with Dr. Philip Beachy at Stanford University where he investigated the biology and genetics underlying the Hedgehog pathway in mammary development and in Culler-Jones syndrome. Dr. Zhao has published numerous papers in journals that include Science, Nature Genetics, Nature Cell Biology, and Genetics in Medicine.
Appointments
Education & Training
- PhD
- Stony Brook University, Genetics (2007)
Research
Research at a Glance
Yale Co-Authors
Publications Timeline
Allen Bale, MD
Yong-Hui Jiang, MD, PhD
Jia Di Wen, FACMG
Peining Li, PhD
Deqiong Ma, MD, PhD, FACMG
Michele Spencer-Manzon, MD
Publications
2024
P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program
Xicola R, Bistline E, Galloway M, Cox A, Abdelhamed Z, Ma D, Zhao C, Dykas D, Bale A, Zhang H. P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program. Genetics In Medicine Open 2024, 2: 101246. DOI: 10.1016/j.gimo.2024.101246.Peer-Reviewed Original Research
2022
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsPediatric patientsWhole-exome sequencingCase seriesAR diseasesPathogenic variantsLarge consecutive case seriesConsecutive case seriesLarge case seriesUniparental disomyLikely pathogenic variantsRegions of homozygosityChromosomal microarray analysisAutosomal recessive diseasePrader-Willi syndromeDiagnostic findingsDiagnostic yieldPatientsPredictive valueGenetic testingHomozygous variantDiseaseExome sequencingRecessive diseaseGenetic counselingStrongest predictor
2021
Early-Onset Vascular Dementia in a 43-Year-Old Man with Accelerated Atherosclerotic Disease, Elevated Lipoprotein (a), and a Missense DNAJC5 Variant with Potential Association to Adult-Onset Ceroid Lipofuscinosis
Faruq RN, D’Silva P, Lau FD, Zhao C, Majumdar S. Early-Onset Vascular Dementia in a 43-Year-Old Man with Accelerated Atherosclerotic Disease, Elevated Lipoprotein (a), and a Missense DNAJC5 Variant with Potential Association to Adult-Onset Ceroid Lipofuscinosis. Case Reports In Neurology 2021, 13: 565-571. PMID: 34720963, PMCID: PMC8460928, DOI: 10.1159/000518194.Peer-Reviewed Case Reports and Technical NotesCitationsConceptsEarly-onset dementiaNew infarctsElevated lipoproteinVascular dementiaRisk factorsMemory lossCeroid lipofuscinosisAccelerated atherosclerotic diseaseEarly vascular dementiaModifiable risk factorsProgressive memory lossMissense variantsDNAJC5 geneBilateral ICABilateral PCACardiac echocardiogramAccelerated atherosclerosisAntiplatelet agentsCerebrovascular infarctsAtherosclerotic diseaseCSF studiesLeft PCASevere stenosisMMA levelsInfarctsA review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States
Zhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States. 中华医学遗传学杂志 2021, 38: 513-520. PMID: 34096016, DOI: 10.3760/cma.j.cn511374-20200924-00691.Peer-Reviewed Original ResearchCitations
2020
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirth
Get In Touch
Contacts
Genetics
333 Cedar St
New Haven, CT 06510
United States
Locations
Medical Genetics Office
Academic Office
Winchester Building
25 York Street, Fl 3rd, Rm WWW330
New Haven, CT 06511