Yong-Hui Jiang, MD, PhD
Genetics, Clinical Genetics, Medical Biochemical Genetics
Telehealth is available
Patient type treated
Child, Adult
Accepting new patients
Yes
Referral required
From patients or physicians
Board Certified in
Pediatrics, Clinical Genetics, Clinical Genetics and Genomics
, and Medical Biochemical Genetics
Biography
Yong-Hui Jiang, MD, PhD, chief of Medical Genetics, is trained in pediatrics and board certified in clinical genetics and medical biochemical genetics. He not only evaluates and treats rare and undiagnosed genetic diseases in infants through adults, but conducts basic and translational research.
“I joke with families that I am not just a specialist, but a super specialist because of my credentials and experience as a medical biochemical geneticist, one of two such physicians in the state, and we are both here at Yale,” says Dr. Jiang.
Adding lightness to what can be daunting medical appointments is one way Dr. Jiang connects with patients. Medical biochemical geneticists specialize in inherited metabolic conditions including inborn errors of metabolism. Inborn errors of metabolism (often diagnosed during standard screening at birth) are problems with how the body uses enzymes to digest proteins, fatty, and carbohydrates, which are important to the functions of all organs. Dr. Jiang also treats neurodevelopmental disorders such as Angelman’s, Prader-Willi, and Phelan-McDermid syndromes; and autism spectrum disorder.
“One of the challenges in my specialty is that the first job is to figure out what is going on. Sometimes, a family has been searching for a diagnosis for 10 years or more, and it is very rewarding to give them an answer,” Dr. Jiang says. “What motivates me, both in my clinical and research work, is developing treatments that will help them.”
Meanwhile, advances in clinical genetics continue at a rapid pace thanks to cutting-edge genetics testing technology at Yale and extensive experience on applying genome technology here, he notes. “The tools we have for reading your genome are now such better quality and lower cost,” he says. “There is a lot of hope of being able to evaluate and treat conditions to degrees that were not possible five years ago.”
Titles
- Professor and Chief of Medical Genetics
Education & Training
- Medical Biochemical Genetics Training by Service PathwayBaylor College of Medicine (2008)
- Clinical Genetics and Genomics FellowBaylor College of Medicine (2007)
- Pediatric residentTexas Children's Hosital, Baylor College of Medicine (2005)
- PhDBaylor College of Medicine, Molecular and Human Genetics (1999)
- MDFormer Shanghai Medical Univeristy/Current Shanghai Medical College of Fudan University (1987)
Languages Spoken
- 官話 / 官话 (Chinese-Mandarin)
- English
Additional Information
Honors & Recognitions
- Cure Angelman Discovery Award 2022: Foundation for Angelman Syndrome Therapeutics (2022), (2023)
- No. 1 of top 10 autism research project: Autism Speaks (2020)
Professional Service
- NIH (2019 - Present): Standing Member
- Foundation for Angelman Syndrome Therapeuics (2014 - Present): Committee Member
Publications
- Thaler R, Khani F, Sturmlechner I, Dehghani SS, Denbeigh JM, Zhou X, Pichurin O, Dudakovic A, Jerez SS, Zhong J, Lee JH, Natarajan R, Kalajzic I, Jiang YH, Deyle DR, Paschalis EP, Misof BM, Ordog T, van Wijnen AJ. Vitamin C epigenetically controls osteogenesis and bone mineralization. Nature Communications 2022, 13: 5883. PMID: 36202795, PMCID: PMC9537512, DOI: 10.1038/s41467-022-32915-8.
- Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
- Wei L, Du X, Yang Z, Ding M, Yang B, Wang J, Long S, Qiao Z, Jiang Y, Wang Y, Wang H. Disrupted Topological Organization of White Matter Network in Angelman Syndrome. Journal Of Magnetic Resonance Imaging 2022, 57: 1212-1221. PMID: 35856797, DOI: 10.1002/jmri.28360.
- Hong H, Zhao Z, Huang X, Guo C, Zhao H, Wang GD, Zhang YP, Zhao JP, Shi J, Wu QF, Jiang YH, Wang Y, Li LM, Du Z, Zhang YQ, Xiong Y. Comparative Proteome and Cis-Regulatory Element Analysis Reveals Specific Molecular Pathways Conserved in Dog and Human Brains. Molecular & Cellular Proteomics 2022, 21: 100261. PMID: 35738554, PMCID: PMC9304787, DOI: 10.1016/j.mcpro.2022.100261.
- Kim S, Kim YE, Song I, Ujihara Y, Kim N, Jiang YH, Yin HH, Lee TH, Kim IH. Neural circuit pathology driven by Shank3 mutation disrupts social behaviors. Cell Reports 2022, 39: 110906. PMID: 35675770, PMCID: PMC9210496, DOI: 10.1016/j.celrep.2022.110906.
- Wang S, Jiang Y. Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders. 2022, 405-426. DOI: 10.1007/978-3-030-94475-9_17.
- Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Acosta M, Adam M, Adams D, Agrawal P, Alejandro M, Alvey J, Amendola L, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs A, Behrens E, Bejerano G, Bennet J, Berg-Rood B, Bernstein J, Berry G, Bican A, Bivona S, Blue E, Bohnsack J, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere L, Brokamp E, Brown G, Burke E, Burrage L, Butte M, Byers P, Byrd W, Carey J, Carrasquillo O, Chang T, Chanprasert S, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Coggins M, Cole F, Colley H, Cooper C, Cope H, Craigen W, Crouse A, Cunningham M, D'Souza P, Dai H, Dasari S, Davids M, Dayal J, Deardorff M, Dell'Angelica E, Dhar S, Dipple K, Doherty D, Dorrani N, Douine E, Draper D, Duncan L, Earl D, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Falk M, Fernandez L, Ferreira C, Fieg E, Findley L, Fisher P, Fogel B, Forghani I, Fresard L, GahlIan-Glass W, Godfrey R, Golden-Grant K, Goldman A, Goldstein D, Grajewski A, Groden C, Gropman A, Gutierrez I, Hahn S, Hamid R, Hanchard N, Hassey K, Hayes N, High F, Hing A, Hisama F, Holm I, Hom J, Horike-Pyne M, Huang A, Huang Y, Isasi R, Jamal F, Jarvik G, Jarvik J, Jayadev S, Johnston J, Karaviti L, Kelley E, Kennedy J, Kiley D, Kohane I, Kohler J, Krakow D, Krasnewich D, Kravets E, Korrick S, Koziura M, Krier J, Lalani S, Lam B, Lam C, Lanpher B, Lanza I, Lau C, LeBlanc K, Lee B, Lee H, Levitt R, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Mak B, Malicdan M, Mamounas L, Manolio T, Mao R, Maravilla K, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, McCauley J, McConkie-Rosell A, McCormack C, McCray A, McGee E, Mefford H, Merritt J, Might M, Mirzaa G, Morava E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nakano-Okuno M, Nath A, Nelson S, Newman J, Nicholas S, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Palmer C, Papp J, Parker N, Phillips III J, Posey J, Potocki L, Pusey B, Quinlan A, Raskind W, Raja A, Rao D, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rosenwasser N, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Scott C, Schaechter J, Schedl T, Schoch K, Scott D, Sharma P, Shashi V, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith E, Smith K, Solem E, Solnica-Krezel L, Spillmann R, Stoler J, StongJ N, Sullivan E, Sullivan K, Sun A, Sutton S, Sweetser D, Sybert V, Tabor H, Tamburro C, K-GTan Q, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Tucker B, Urv T, Vanderver A, Velinder M, Viskochil D, Vogel T, Wahl C, Wallace S, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Wegner D, Wener M, Wenger T, Perry K, Westerfield M, Wheeler M, Whitlock J, Wolfe L, Woods J, Yamamoto S, Yang J, Yu G, Zastrow D, Zhao C, Zuchner S, Ariani F, Renieri A, Mari F, Wangler M, Arur S, Jiang Y, Yamamoto S, Shashi V, Bellen H. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics 2022, 31: 2934-2950. PMID: 35405010, PMCID: PMC9433733, DOI: 10.1093/hmg/ddac085.
- Mague SD, Talbot A, Blount C, Walder-Christensen KK, Duffney LJ, Adamson E, Bey AL, Ndubuizu N, Thomas GE, Hughes DN, Grossman Y, Hultman R, Sinha S, Fink AM, Gallagher NM, Fisher RL, Jiang YH, Carlson DE, Dzirasa K. Brain-wide electrical dynamics encode individual appetitive social behavior. Neuron 2022, 110: 1728-1741.e7. PMID: 35294900, PMCID: PMC9126093, DOI: 10.1016/j.neuron.2022.02.016.
- 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.
- Tzanoulinou S, Musardo S, Contestabile A, Bariselli S, Casarotto G, Magrinelli E, Jiang YH, Jabaudon D, Bellone C. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular Psychiatry 2022, 27: 2080-2094. PMID: 35022531, PMCID: PMC9126815, DOI: 10.1038/s41380-021-01427-0.
- Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 2022, 24: 179-191. PMID: 34906456, DOI: 10.1016/j.gim.2021.09.005.
- Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Human Molecular Genetics 2021, 31: 1430-1442. PMID: 34788807, PMCID: PMC9271223, DOI: 10.1093/hmg/ddab321.
- Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.
- Zhang L, Qian Y, Li J, Zhou X, Xu H, Yan J, Xiang J, Yuan X, Sun B, Sisodia SS, Jiang YH, Cao X, Jing N, Lin A. BAD-mediated neuronal apoptosis and neuroinflammation contribute to Alzheimer's disease pathology. IScience 2021, 24: 102942. PMID: 34430820, PMCID: PMC8369003, DOI: 10.1016/j.isci.2021.102942.
- Zhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.
- Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. Molecular Case Studies 2021, 7: a006081. PMID: 34117073, PMCID: PMC8208043, DOI: 10.1101/mcs.a006081.
- 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.
- Moyon S, Frawley R, Marechal D, Huang D, Marshall-Phelps KLH, Kegel L, Bøstrand SMK, Sadowski B, Jiang YH, Lyons DA, Möbius W, Casaccia P. TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice. Nature Communications 2021, 12: 3359. PMID: 34099715, PMCID: PMC8185117, DOI: 10.1038/s41467-021-23735-3.
- Ma Y, Zhou H, Li C, Zou X, Luo X, Wu L, Li T, Chen X, Mao M, Huang Y, Li E, An Y, Zhang L, Wang T, Xu X, Yan W, Jiang Y, Wang Y. Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary 1H-NMR Metabolomics Analysis. Frontiers In Psychiatry 2021, 12: 624767. PMID: 34045978, PMCID: PMC8144639, DOI: 10.3389/fpsyt.2021.624767.
- Yan W, Siegert RJ, Zhou H, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Li C, Zhang X, Zhou Y, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis. Autism 2021, 25: 1872-1884. PMID: 33845648, PMCID: PMC8548063, DOI: 10.1177/13623613211004054.
- Liu C, Li D, Yang H, Li H, Xu Q, Zhou B, Hu C, Li C, Wang Y, Qiao Z, Jiang YH, Xu X. Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. Progress In Neurobiology 2020, 200: 101985. PMID: 33388374, PMCID: PMC8572121, DOI: 10.1016/j.pneurobio.2020.101985.
- Wang T, Wang J, Ma Y, Zhou H, Ding D, Li C, Du X, Jiang YH, Wang Y, Long S, Li S, Lu G, Chen W, Zhou Y, Zhou S, Wang Y. High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020, 84: 40-46. PMID: 33278787, DOI: 10.1016/j.seizure.2020.10.032.
- 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.
- Zhou H, Lin Y, Zhao W, Teng Y, Cui Y, Wang T, Li C, Jiang YH, Zhang JJ, Wang Y. The role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humans. Environmental Pollution 2020, 267: 115568. PMID: 33254717, DOI: 10.1016/j.envpol.2020.115568.
- Kishnani S, Riley K, Mikati M, Jiang Y. Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review. Journal Of Pediatric Neurology 2020, 19: 193-201. DOI: 10.1055/s-0040-1714070.
- Hulbert SW, Wang X, Gbadegesin SO, Xu Q, Xu X, Jiang Y. A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination. Autism Research 2020, 13: 1685-1697. PMID: 32815320, PMCID: PMC7780289, DOI: 10.1002/aur.2353.
- Zhou H, Xu X, Yan W, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Ge X, Zhang L, Li C, Zhang X, Zhou Y, Ding D, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years. Neuroscience Bulletin 2020, 36: 961-971. PMID: 32607739, PMCID: PMC7475160, DOI: 10.1007/s12264-020-00530-6.
- Schoch K, Tan Q, Stong N, Deak KL, McConkie-Rosell A, McDonald MT, Goldstein D, Jiang Y, Shashi V. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genetics In Medicine 2020, 22: 1269-1275. PMID: 32366967, PMCID: PMC7335342, DOI: 10.1038/s41436-020-0781-x.
- Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K. Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. Pediatrics 2020, 145: e20191490. PMID: 32015180, PMCID: PMC7802010, DOI: 10.1542/peds.2019-1490.
- Sun A, Yuan Q, Fukuda M, Yu W, Yan H, Lim G, Nai M, D'Agostino G, Tran H, Itahana Y, Wang D, Lokman H, Itahana K, Lim S, Tang J, Chang Y, Zhang M, Cook S, Rackham O, Lim C, Tan E, Ng H, Lim K, Jiang Y, Je H. Potassium channel dysfunction in human neuronal models of Angelman syndrome. Science 2019, 366: 1486-1492. PMID: 31857479, PMCID: PMC7735558, DOI: 10.1126/science.aav5386.
- Zhao H, Wang Q, Yan T, Zhang Y, Xu H, Yu H, Tu Z, Guo X, Jiang Y, Li X, Zhou H, Zhang Y. Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates. Translational Psychiatry 2019, 9: 267. PMID: 31636273, PMCID: PMC6803711, DOI: 10.1038/s41398-019-0608-1.
- McConkie‐Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer C, Pena L, Jiang Y, Daniels N, Walley N, Tan K, Network U, Hooper S, Shashi V. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Clinical Genetics 2019, 96: 521-531. PMID: 31448412, PMCID: PMC6983919, DOI: 10.1111/cge.13635.
- Yang R, Walder-Christensen KK, Lalani S, Yan H, García-Prieto ID, Álvarez S, Fernández-Jaén A, Speltz L, Jiang YH, Bennett V. Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 19717-19726. PMID: 31451636, PMCID: PMC6765234, DOI: 10.1073/pnas.1909989116.
- Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. American Journal Of Human Genetics 2019, 105: 640-657. PMID: 31402090, PMCID: PMC6731360, DOI: 10.1016/j.ajhg.2019.07.005.
- Wang SE, Jiang YH. Potential of Epigenetic Therapy for Prader-Willi Syndrome. Trends In Pharmacological Sciences 2019, 40: 605-608. PMID: 31353046, DOI: 10.1016/j.tips.2019.07.002.
- Yang R, Walder-Christensen KK, Kim N, Wu D, Lorenzo DN, Badea A, Jiang YH, Yin HH, Wetsel WC, Bennett V. ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 15262-15271. PMID: 31285321, PMCID: PMC6660793, DOI: 10.1073/pnas.1904348116.
- Mansour M, Haupt S, Chan A, Godde N, Rizzitelli A, Loi S, Caramia F, Deb S, Takano E, Bishton M, Johnstone C, Monahan B, Levav-Cohen Y, Jiang Y, Yap A, Fox S, Bernard O, Anderson R, Haupt Y. Retraction: The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling. Cancer Research 2019, 79: 3008-3008. PMID: 31160311, DOI: 10.1158/0008-5472.can-19-1133.
- Abdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang YH, Mikati MA. Corrigendum to “Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature” [Seizure 55 (February) (2018) 1–3]. Seizure 2019, 69: 305. PMID: 31072785, DOI: 10.1016/j.seizure.2019.04.014.
- Kim Y, Wang SE, Jiang YH. Epigenetic therapy of Prader–Willi syndrome. Translational Research 2019, 208: 105-118. PMID: 30904443, PMCID: PMC6527448, DOI: 10.1016/j.trsl.2019.02.012.
- Tremblay MW, Jiang YH. DNA Methylation and Susceptibility to Autism Spectrum Disorder. Annual Review Of Medicine 2019, 70: 151-166. PMID: 30691368, PMCID: PMC6597259, DOI: 10.1146/annurev-med-120417-091431.
- Jiang YH, Huang T. The history and current status of medical genetics and genomics system in the United States. 中华医学遗传学杂志 2019, 36: 1-6. PMID: 30722085, DOI: 10.3760/cma.j.issn.1003-9406.2019.01.001.
- Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Campeau PM. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. American Journal Of Human Genetics 2019, 104: 164-178. PMID: 30580808, PMCID: PMC6323608, DOI: 10.1016/j.ajhg.2018.11.007.
- Xu Q, Liu YY, Wang X, Tan GH, Li HP, Hulbert SW, Li CY, Hu CC, Xiong ZQ, Xu X, Jiang YH. Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. Molecular Autism 2018, 9: 65. PMID: 30574290, PMCID: PMC6299922, DOI: 10.1186/s13229-018-0244-2.
- Towers AJ, Tremblay MW, Chung L, Li XL, Bey AL, Zhang W, Cao X, Wang X, Wang P, Duffney LJ, Siecinski SK, Xu S, Kim Y, Kong X, Gregory S, Xie W, Jiang YH. Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders. JCI Insight 2018, 3: e120592. PMID: 30518695, PMCID: PMC6328031, DOI: 10.1172/jci.insight.120592.
- Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 2018, 11: 92. PMID: 30352594, PMCID: PMC6199733, DOI: 10.1186/s12920-018-0421-3.
- Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencingWu J, Yu P, Jin X, Xu X, Li J, Li Z, Wang M, Wang T, Wu X, Jiang Y, Cai W, Mei J, Min Q, Xu Q, Zhou B, Guo H, Wang P, Zhou W, Hu Z, Li Y, Cai T, Wang Y, Xia K, Jiang YH, Sun ZS. Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing. Journal Of Genetics And Genomics 2018, 45: 527-538. PMID: 30392784, DOI: 10.1016/j.jgg.2018.09.002.
- Tu Z, Zhao H, Li B, Yan S, Wang L, Tang Y, Li Z, Bai D, Li C, Lin Y, Li Y, Liu J, Xu H, Guo X, Jiang YH, Zhang YQ, Li XJ. CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms. Human Molecular Genetics 2018, 28: 561-571. PMID: 30329048, PMCID: PMC6489410, DOI: 10.1093/hmg/ddy367.
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- Miao S, Chen R, Ye J, Tan G, Li S, Zhang J, Jiang Y, Xiong Z. The Angelman Syndrome Protein Ube3a Is Required for Polarized Dendrite Morphogenesis in Pyramidal Neurons. Journal Of Neuroscience 2013, 33: 327-333. PMID: 23283345, PMCID: PMC6618628, DOI: 10.1523/jneurosci.2509-12.2013.
- Wetsel W, Moy S, Jiang Y. Chapter 4.1 Mouse Behavioral Models for Autism Spectrum Disorders. 2013, 363-378. DOI: 10.1016/b978-0-12-391924-3.00026-0.
- Chung L, Bey AL, Jiang YH. Synaptic Plasticity in Mouse Models of Autism Spectrum Disorders. Korean Journal Of Physiology And Pharmacology 2012, 16: 369-378. PMID: 23269898, PMCID: PMC3526740, DOI: 10.4196/kjpp.2012.16.6.369.
- Wolyniec K, Levav-Cohen Y, Jiang Y, Haupt S, Haupt Y. The E6AP E3 ubiquitin ligase regulates the cellular response to oxidative stress. Oncogene 2012, 32: 3510-3519. PMID: 22986523, DOI: 10.1038/onc.2012.365.
- Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang Y, Sun ZS. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Human Mutation 2012, 33: 1635-1638. PMID: 22865819, DOI: 10.1002/humu.22174.
- Wolyniec K, Shortt J, de Stanchina E, Levav-Cohen Y, Alsheich-Bartok O, Louria-Hayon I, Corneille V, Kumar B, Woods S, Opat S, Johnstone R, Scott C, Segal D, Pandolfi P, Fox S, Strasser A, Jiang Y, Lowe S, Haupt S, Haupt Y. E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis. Blood 2012, 120: 822-832. PMID: 22689861, PMCID: PMC3709628, DOI: 10.1182/blood-2011-10-387647.
- Levav-Cohen Y, Wolyniec K, Alsheich-Bartok O, Chan A, Woods S, Jiang Y, Haupt S, Haupt Y. E6AP is required for replicative and oncogene-induced senescence in mouse embryo fibroblasts. Oncogene 2011, 31: 2199-2209. PMID: 21927031, DOI: 10.1038/onc.2011.402.
- Wang X, McCoy PA, Rodriguiz RM, Pan Y, Je HS, Roberts AC, Kim CJ, Berrios J, Colvin JS, Bousquet-Moore D, Lorenzo I, Wu G, Weinberg RJ, Ehlers MD, Philpot BD, Beaudet AL, Wetsel WC, Jiang YH. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Human Molecular Genetics 2011, 20: 3093-3108. PMID: 21558424, PMCID: PMC3131048, DOI: 10.1093/hmg/ddr212.
- Veerapandiyan A, Shashi V, Jiang Y, Gallentine W, Schoch K, Smith E. Pseudometabolic presentation of dystrophinopathy due to a missense mutation. Muscle & Nerve 2010, 42: 975-979. PMID: 21104870, PMCID: PMC5506871, DOI: 10.1002/mus.21823.
- Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL. Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3. PLOS ONE 2010, 5: e12278. PMID: 20808828, PMCID: PMC2924885, DOI: 10.1371/journal.pone.0012278.
- Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neuroscience Letters 2009, 487: 129-133. PMID: 19563863, PMCID: PMC2888840, DOI: 10.1016/j.neulet.2009.06.079.
- Jiang Y, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl. American Journal Of Medical Genetics Part A 2009, 149A: 1249-1252. PMID: 19449433, PMCID: PMC2819399, DOI: 10.1002/ajmg.a.32863.
- Louria-Hayon I, Alsheich-Bartok O, Levav-Cohen Y, Silberman I, Berger M, Grossman T, Matentzoglu K, Jiang Y, Muller S, Scheffner M, Haupt S, Haupt Y. E6AP promotes the degradation of the PML tumor suppressor. Cell Death & Differentiation 2009, 16: 1156-1166. PMID: 19325566, DOI: 10.1038/cdd.2009.31.
- Jiang Y, Martinez JE, Ou Z, Cooper ML, Kang S, Pursley A, Cheung SW. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23). American Journal Of Medical Genetics Part A 2008, 146A: 1986-1993. PMID: 18627051, DOI: 10.1002/ajmg.a.32408.
- Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics 2008, 9: 50. PMID: 18226259, PMCID: PMC2268926, DOI: 10.1186/1471-2164-9-50.
- van Woerden GM, Harris KD, Hojjati MR, Gustin RM, Qiu S, de Avila Freire R, Jiang YH, Elgersma Y, Weeber EJ. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation. Nature Neuroscience 2007, 10: 280-282. PMID: 17259980, DOI: 10.1038/nn1845.
- Jiang YH, Bressler J, Beaudet AL. EPIGENETICS AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2004, 5: 479-510. PMID: 15485357, DOI: 10.1146/annurev.genom.5.061903.180014.
- Jiang Y, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American Journal Of Medical Genetics Part A 2004, 131A: 1-10. PMID: 15389703, DOI: 10.1002/ajmg.a.30297.
- Jiang YH, Beaudet AL. Human disorders of ubiquitination and proteasomal degradation. Current Opinion In Pediatrics 2004, 16: 419-426. PMID: 15273504, DOI: 10.1097/01.mop.0000133634.79661.cd.
- Belmonte MK, Cook EH, Anderson GM, Rubenstein JL, Greenough WT, Beckel-Mitchener A, Courchesne E, Boulanger LM, Powell SB, Levitt PR, Perry EK, Jiang YH, DeLorey TM, Tierney E. Autism as a disorder of neural information processing: directions for research and targets for therapy. Molecular Psychiatry 2004, 9: 646-663. PMID: 15037868, DOI: 10.1038/sj.mp.4001499.
- Tsai T, Bressler J, Jiang Y, Beaudet AL. Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis 2003, 37: 151-161. PMID: 14666508, DOI: 10.1002/gene.10237.
- Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome. Journal Of Neuroscience 2003, 23: 2634-2644. PMID: 12684449, PMCID: PMC6742065, DOI: 10.1523/jneurosci.23-07-02634.2003.
- Cooper B, Schneider S, Bohl J, Jiang Y, Beaudet A, Pol S. Requirement of e6ap and the features of human papillomavirus e6 necessary to support degradation of p53. Virology 2003, 306: 87-99. PMID: 12620801, DOI: 10.1016/s0042-6822(02)00012-0.
- Beaudet AL, Jiang YH. A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution. American Journal Of Human Genetics 2002, 70: 1389-1397. PMID: 11992247, PMCID: PMC379123, DOI: 10.1086/340969.
- Smith CL, DeVera DG, Lamb DJ, Nawaz Z, Jiang YH, Beaudet AL, O’Malley B. Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in Reproduction. Molecular And Cellular Biology 2002, 22: 525-535. PMID: 11756548, PMCID: PMC139730, DOI: 10.1128/mcb.22.2.525-535.2002.
- Cummings C, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr H, Beaudet A, Zoghbi H. Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice. Neuron 1999, 24: 879-892. PMID: 10624951, DOI: 10.1016/s0896-6273(00)81035-1.
- Tsai T, Jiang Y, Bressler J, Armstrong D, Beaudet A. Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome. Human Molecular Genetics 1999, 8: 1357-1364. PMID: 10400982, DOI: 10.1093/hmg/8.8.1357.
- Jiang Y, Lev-Lehman E, Bressler J, Tsai T, Beaudet A. Genetics of Angelman Syndrome. American Journal Of Human Genetics 1999, 65: 1-6. PMID: 10364509, PMCID: PMC1378067, DOI: 10.1086/302473.
- Jiang Y, Armstrong D, Albrecht U, Atkins C, Noebels J, Eichele G, Sweatt J, Beaudet A. Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation. Neuron 1998, 21: 799-811. PMID: 9808466, DOI: 10.1016/s0896-6273(00)80596-6.
- Jiang Y, Tsai T, Bressler J, Beaudet A. Imprinting in Angelman and Prader-Willi syndromes. Current Opinion In Genetics & Development 1998, 8: 334-342. PMID: 9691003, DOI: 10.1016/s0959-437x(98)80091-9.
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Departments and Programs
Biography
Yong-Hui Jiang, MD, PhD, chief of Medical Genetics, is trained in pediatrics and board certified in clinical genetics and medical biochemical genetics. He not only evaluates and treats rare and undiagnosed genetic diseases in infants through adults, but conducts basic and translational research.
“I joke with families that I am not just a specialist, but a super specialist because of my credentials and experience as a medical biochemical geneticist, one of two such physicians in the state, and we are both here at Yale,” says Dr. Jiang.
Adding lightness to what can be daunting medical appointments is one way Dr. Jiang connects with patients. Medical biochemical geneticists specialize in inherited metabolic conditions including inborn errors of metabolism. Inborn errors of metabolism (often diagnosed during standard screening at birth) are problems with how the body uses enzymes to digest proteins, fatty, and carbohydrates, which are important to the functions of all organs. Dr. Jiang also treats neurodevelopmental disorders such as Angelman’s, Prader-Willi, and Phelan-McDermid syndromes; and autism spectrum disorder.
“One of the challenges in my specialty is that the first job is to figure out what is going on. Sometimes, a family has been searching for a diagnosis for 10 years or more, and it is very rewarding to give them an answer,” Dr. Jiang says. “What motivates me, both in my clinical and research work, is developing treatments that will help them.”
Meanwhile, advances in clinical genetics continue at a rapid pace thanks to cutting-edge genetics testing technology at Yale and extensive experience on applying genome technology here, he notes. “The tools we have for reading your genome are now such better quality and lower cost,” he says. “There is a lot of hope of being able to evaluate and treat conditions to degrees that were not possible five years ago.”
Titles
- Professor and Chief of Medical Genetics
Education & Training
- Medical Biochemical Genetics Training by Service PathwayBaylor College of Medicine (2008)
- Clinical Genetics and Genomics FellowBaylor College of Medicine (2007)
- Pediatric residentTexas Children's Hosital, Baylor College of Medicine (2005)
- PhDBaylor College of Medicine, Molecular and Human Genetics (1999)
- MDFormer Shanghai Medical Univeristy/Current Shanghai Medical College of Fudan University (1987)
Languages Spoken
- 官話 / 官话 (Chinese-Mandarin)
- English
Additional Information
Honors & Recognitions
- Cure Angelman Discovery Award 2022: Foundation for Angelman Syndrome Therapeutics (2022), (2023)
- No. 1 of top 10 autism research project: Autism Speaks (2020)
Professional Service
- NIH (2019 - Present): Standing Member
- Foundation for Angelman Syndrome Therapeuics (2014 - Present): Committee Member
Publications
- Thaler R, Khani F, Sturmlechner I, Dehghani SS, Denbeigh JM, Zhou X, Pichurin O, Dudakovic A, Jerez SS, Zhong J, Lee JH, Natarajan R, Kalajzic I, Jiang YH, Deyle DR, Paschalis EP, Misof BM, Ordog T, van Wijnen AJ. Vitamin C epigenetically controls osteogenesis and bone mineralization. Nature Communications 2022, 13: 5883. PMID: 36202795, PMCID: PMC9537512, DOI: 10.1038/s41467-022-32915-8.
- Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
- Wei L, Du X, Yang Z, Ding M, Yang B, Wang J, Long S, Qiao Z, Jiang Y, Wang Y, Wang H. Disrupted Topological Organization of White Matter Network in Angelman Syndrome. Journal Of Magnetic Resonance Imaging 2022, 57: 1212-1221. PMID: 35856797, DOI: 10.1002/jmri.28360.
- Hong H, Zhao Z, Huang X, Guo C, Zhao H, Wang GD, Zhang YP, Zhao JP, Shi J, Wu QF, Jiang YH, Wang Y, Li LM, Du Z, Zhang YQ, Xiong Y. Comparative Proteome and Cis-Regulatory Element Analysis Reveals Specific Molecular Pathways Conserved in Dog and Human Brains. Molecular & Cellular Proteomics 2022, 21: 100261. PMID: 35738554, PMCID: PMC9304787, DOI: 10.1016/j.mcpro.2022.100261.
- Kim S, Kim YE, Song I, Ujihara Y, Kim N, Jiang YH, Yin HH, Lee TH, Kim IH. Neural circuit pathology driven by Shank3 mutation disrupts social behaviors. Cell Reports 2022, 39: 110906. PMID: 35675770, PMCID: PMC9210496, DOI: 10.1016/j.celrep.2022.110906.
- Wang S, Jiang Y. Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders. 2022, 405-426. DOI: 10.1007/978-3-030-94475-9_17.
- Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Acosta M, Adam M, Adams D, Agrawal P, Alejandro M, Alvey J, Amendola L, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs A, Behrens E, Bejerano G, Bennet J, Berg-Rood B, Bernstein J, Berry G, Bican A, Bivona S, Blue E, Bohnsack J, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere L, Brokamp E, Brown G, Burke E, Burrage L, Butte M, Byers P, Byrd W, Carey J, Carrasquillo O, Chang T, Chanprasert S, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Coggins M, Cole F, Colley H, Cooper C, Cope H, Craigen W, Crouse A, Cunningham M, D'Souza P, Dai H, Dasari S, Davids M, Dayal J, Deardorff M, Dell'Angelica E, Dhar S, Dipple K, Doherty D, Dorrani N, Douine E, Draper D, Duncan L, Earl D, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Falk M, Fernandez L, Ferreira C, Fieg E, Findley L, Fisher P, Fogel B, Forghani I, Fresard L, GahlIan-Glass W, Godfrey R, Golden-Grant K, Goldman A, Goldstein D, Grajewski A, Groden C, Gropman A, Gutierrez I, Hahn S, Hamid R, Hanchard N, Hassey K, Hayes N, High F, Hing A, Hisama F, Holm I, Hom J, Horike-Pyne M, Huang A, Huang Y, Isasi R, Jamal F, Jarvik G, Jarvik J, Jayadev S, Johnston J, Karaviti L, Kelley E, Kennedy J, Kiley D, Kohane I, Kohler J, Krakow D, Krasnewich D, Kravets E, Korrick S, Koziura M, Krier J, Lalani S, Lam B, Lam C, Lanpher B, Lanza I, Lau C, LeBlanc K, Lee B, Lee H, Levitt R, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Mak B, Malicdan M, Mamounas L, Manolio T, Mao R, Maravilla K, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, McCauley J, McConkie-Rosell A, McCormack C, McCray A, McGee E, Mefford H, Merritt J, Might M, Mirzaa G, Morava E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nakano-Okuno M, Nath A, Nelson S, Newman J, Nicholas S, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Palmer C, Papp J, Parker N, Phillips III J, Posey J, Potocki L, Pusey B, Quinlan A, Raskind W, Raja A, Rao D, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rosenwasser N, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Scott C, Schaechter J, Schedl T, Schoch K, Scott D, Sharma P, Shashi V, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith E, Smith K, Solem E, Solnica-Krezel L, Spillmann R, Stoler J, StongJ N, Sullivan E, Sullivan K, Sun A, Sutton S, Sweetser D, Sybert V, Tabor H, Tamburro C, K-GTan Q, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Tucker B, Urv T, Vanderver A, Velinder M, Viskochil D, Vogel T, Wahl C, Wallace S, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Wegner D, Wener M, Wenger T, Perry K, Westerfield M, Wheeler M, Whitlock J, Wolfe L, Woods J, Yamamoto S, Yang J, Yu G, Zastrow D, Zhao C, Zuchner S, Ariani F, Renieri A, Mari F, Wangler M, Arur S, Jiang Y, Yamamoto S, Shashi V, Bellen H. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics 2022, 31: 2934-2950. PMID: 35405010, PMCID: PMC9433733, DOI: 10.1093/hmg/ddac085.
- Mague SD, Talbot A, Blount C, Walder-Christensen KK, Duffney LJ, Adamson E, Bey AL, Ndubuizu N, Thomas GE, Hughes DN, Grossman Y, Hultman R, Sinha S, Fink AM, Gallagher NM, Fisher RL, Jiang YH, Carlson DE, Dzirasa K. Brain-wide electrical dynamics encode individual appetitive social behavior. Neuron 2022, 110: 1728-1741.e7. PMID: 35294900, PMCID: PMC9126093, DOI: 10.1016/j.neuron.2022.02.016.
- 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.
- Tzanoulinou S, Musardo S, Contestabile A, Bariselli S, Casarotto G, Magrinelli E, Jiang YH, Jabaudon D, Bellone C. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular Psychiatry 2022, 27: 2080-2094. PMID: 35022531, PMCID: PMC9126815, DOI: 10.1038/s41380-021-01427-0.
- Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 2022, 24: 179-191. PMID: 34906456, DOI: 10.1016/j.gim.2021.09.005.
- Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Human Molecular Genetics 2021, 31: 1430-1442. PMID: 34788807, PMCID: PMC9271223, DOI: 10.1093/hmg/ddab321.
- Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.
- Zhang L, Qian Y, Li J, Zhou X, Xu H, Yan J, Xiang J, Yuan X, Sun B, Sisodia SS, Jiang YH, Cao X, Jing N, Lin A. BAD-mediated neuronal apoptosis and neuroinflammation contribute to Alzheimer's disease pathology. IScience 2021, 24: 102942. PMID: 34430820, PMCID: PMC8369003, DOI: 10.1016/j.isci.2021.102942.
- Zhao C, Chai H, Zhou Q, Wen J, Reddy U, Kastury R, Jiang Y, Mak W, Bale A, Zhang H, Li P. Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy Loss. Obstetrical & Gynecological Survey 2021, 76: 468-469. DOI: 10.1097/01.ogx.0000791680.43228.b1.
- Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. Molecular Case Studies 2021, 7: a006081. PMID: 34117073, PMCID: PMC8208043, DOI: 10.1101/mcs.a006081.
- 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.
- Moyon S, Frawley R, Marechal D, Huang D, Marshall-Phelps KLH, Kegel L, Bøstrand SMK, Sadowski B, Jiang YH, Lyons DA, Möbius W, Casaccia P. TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice. Nature Communications 2021, 12: 3359. PMID: 34099715, PMCID: PMC8185117, DOI: 10.1038/s41467-021-23735-3.
- Ma Y, Zhou H, Li C, Zou X, Luo X, Wu L, Li T, Chen X, Mao M, Huang Y, Li E, An Y, Zhang L, Wang T, Xu X, Yan W, Jiang Y, Wang Y. Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary 1H-NMR Metabolomics Analysis. Frontiers In Psychiatry 2021, 12: 624767. PMID: 34045978, PMCID: PMC8144639, DOI: 10.3389/fpsyt.2021.624767.
- Yan W, Siegert RJ, Zhou H, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Li C, Zhang X, Zhou Y, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis. Autism 2021, 25: 1872-1884. PMID: 33845648, PMCID: PMC8548063, DOI: 10.1177/13623613211004054.
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