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Yong-Hui Jiang, MD, PhD

Professor and Chief of Medical Genetics

Research & Publications
Biography
News

Research Summary

1. Molecular and circuit mechanism of for human autism and neurodevelopmental disorders

2. Molecular basis and novel treatment of human genomic imprinting disorders-Angelman and Prader-Willi syndrome

3. Epigenetics and neurodevelopment and neurodevelopmental disorders

4. Genomic approach for rare and undiagnosed diseases in human

5. Novel epigenetic and CRISPR mediated molecular therapy for genomic imprinting disorders

Coauthors

Research Interests

Brain Diseases; Nervous System Malformations; Prader-Willi Syndrome; Angelman Syndrome; Genomic Imprinting; Genetic Diseases, Inborn; Diseases; Autism Spectrum Disorder; Neurodevelopmental Disorders

Public Health Interests

Genetics, Genomics, Epigenetics

Selected Publications

Vitamin C epigenetically controls osteogenesis and bone mineralization.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.
A retrospective cohort analysis of the Yale pediatric genomics discovery programAl‐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.
Disrupted Topological Organization of White Matter Network in Angelman SyndromeWei 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 PMID: 35856797, DOI: 10.1002/jmri.28360.
Comparative Proteome and Cis-Regulatory Element Analysis Reveals Specific Molecular Pathways Conserved in Dog and Human BrainsHong 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.
Neural circuit pathology driven by Shank3 mutation disrupts social behaviorsKim 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: 110906-110906. PMID: 35675770, PMCID: PMC9210496, DOI: 10.1016/j.celrep.2022.110906.
Epigenetic Epidemiology of Autism and Other Neurodevelopmental DisordersWang S, Jiang Y. Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders 2022, 405-426. DOI: 10.1007/978-3-030-94475-9_17.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.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.
Brain-wide electrical dynamics encode individual appetitive social behaviorMague 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.
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patientsWen 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.
Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of AutismTzanoulinou 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.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.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.
Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.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.
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemiaWerner 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.
BAD-mediated neuronal apoptosis and neuroinflammation contribute to Alzheimer's disease pathologyZhang 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.
Exome Sequencing Analysis on Products of Conception: A Cohort Study to Evaluate Clinical Utility and Genetic Etiology for Pregnancy LossZhao 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.
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variantMoss 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.
A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United StatesZhao 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.
TET1-mediated DNA hydroxymethylation regulates adult remyelination in miceMoyon 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.
Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary 1H-NMR Metabolomics AnalysisMa 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.
Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysisYan 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.
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profilingLiu 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.
High genetic burden in 163 Chinese children with status epilepticusWang 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.
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy lossZhao 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.
Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years.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.
The role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humansZhou 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.
Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature ReviewKishnani 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.
A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor CoordinationHulbert 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.
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnosesSchoch K, Tan Q, Stong N, Deak KL, McConkie-Rosell A, McDonald MT, Network U, 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.
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to ImmunomodulationBey 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.
Potassium channel dysfunction in human neuronal models of Angelman syndromeSun 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.
Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primatesZhao 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.
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed diseaseMcConkie‐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.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.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, Zazo 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.
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assemblyYang 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.
Potential of Epigenetic Therapy for Prader-Willi SyndromeWang 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.
ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivityYang 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.
Retraction: The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho SignalingMansour 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.
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]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.
Epigenetic therapy of Prader–Willi syndromeKim 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.
DNA Methylation and Susceptibility to Autism Spectrum DisorderTremblay 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.
The history and current status of medical genetics and genomics system in the United StatesJiang 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.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.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.
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neuronsXu 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.
Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disordersTowers 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.
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 literatureXu 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.
CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms.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.
Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorderHulbert SW, Bey AL, Jiang Y. Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder Brain And Behavior 2018, 8: e01107. PMID: 30317697, PMCID: PMC6236244, DOI: 10.1002/brb3.1107.
Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2 −/− MiceChung C, Ha S, Kang H, Lee J, Um SM, Yan H, Yoo YE, Yoo T, Jung H, Lee D, Lee E, Lee S, Kim J, Kim R, Kwon Y, Kim W, Kim H, Duffney L, Kim D, Mah W, Won H, Mo S, Kim JY, Lim CS, Kaang BK, Boeckers TM, Chung Y, Kim H, Jiang YH, Kim E. Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2 −/− Mice Biological Psychiatry 2018, 85: 534-543. PMID: 30466882, PMCID: PMC6420362, DOI: 10.1016/j.biopsych.2018.09.025.
Characteristics of undiagnosed diseases network applicants: implications for referring providersWalley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K, Undiagnosed Diseases Network, Wise AL, Shashi V. Characteristics of undiagnosed diseases network applicants: implications for referring providers BMC Health Services Research 2018, 18: 652. PMID: 30134969, PMCID: PMC6106923, DOI: 10.1186/s12913-018-3458-2.
PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related BehaviorWang Y, Zeng C, Li J, Zhou Z, Ju X, Xia S, Li Y, Liu A, Teng H, Zhang K, Shi L, Bi C, Xie W, He X, Jia Z, Jiang Y, Cai T, Wu J, Xia K, Sun Z. PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior Cell Reports 2018, 24: 2029-2041. PMID: 30134165, DOI: 10.1016/j.celrep.2018.07.061.
Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic featuresTan Q, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Shashi V, Pena L, Alejandro M, Azamian M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Goldman A, Hanchard N, Jamal F, Karaviti L, Lalani S, Lee B, Lewis R, Marom R, Moretti P, Murdock D, Nicholas S, Orange J, Orengo J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Cope H, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Tan Q, Walley N, Aaron A, Beggs A, Berry G, Briere L, Cooper C, Donnell-Fink L, Fieg E, High F, Korrick S, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walker M, Walsh C, Esteves C, Glanton E, Holm I, Kohane I, McCray A, Might M, LeBlanc K, Bick D, Birch C, Boone B, Brown D, Dorset D, Jones A, Lazar J, Levy S, May T, Newberry J, Worthey E, Batzli G, Colley H, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Bonner D, Coakley T, Davidson J, Dries A, Enns G, Fernandez L, Fisher P, Friedman N, Hom J, Huang Y, Kohler J, Majcherska M, Marwaha S, McCormack C, Merker J, Reuter C, Sampson J, Smith K, Waggott D, Wheeler M, Zastrow D, Zhao C, Allard P, Barseghyan H, Butte M, Dell'Angelica E, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Lee H, Loo S, Martin M, Martínez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Signer R, Sinsheimer J, Vilain E, Wan J, Yoon A, Zheng A, Behnam B, Burke E, D'Souza P, Davids M, Draper D, Estwick T, Ferreira C, Godfrey R, Groden C, Johnston J, Lau C, Macnamara E, Maduro V, Markello T, Morimoto M, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sharma P, Wahl C, Yu G, Gropman A, Baker E, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Yang J, Postlethwait J, Westerfield M, Bican A, Brokamp E, Duncan L, Hamid R, Kozuira M, Newman J, Phillips J, Rives L, Robertson A, Shakachite L, Cogan J. Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features Molecular Case Studies 2018, 4: a003046. PMID: 29970384, PMCID: PMC6169826, DOI: 10.1101/mcs.a003046.
Cross-Cultural Revision and Psychometric Properties of the Chinese Version of the Autism Spectrum Rating Scale (2–5 Years)Zhou H, Li C, Luo X, Wu L, Huang Y, Zhang L, Zou X, Xu X, Jiang YH, Yan W, Wang Y. Cross-Cultural Revision and Psychometric Properties of the Chinese Version of the Autism Spectrum Rating Scale (2–5 Years) Frontiers In Neurology 2018, 9: 460. PMID: 30013502, PMCID: PMC6036302, DOI: 10.3389/fneur.2018.00460.
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeShashi V, Schoch K, Spillmann R, Cope H, Tan Q, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB, Network U, Adams D, Alejandro M, Allard P, Ashley E, Azamian M, Bacino C, Balasubramanyam A, Barseghyan H, Batzli G, Beggs A, Behnam B, Bellen H, Bernstein J, Bican A, Bick D, Birch C, Bonner D, Boone B, Bostwick B, Briere L, Brown D, Brush M, Burke E, Burrage L, Butte M, Chen S, Clark G, Coakley T, Coakley T, Cogan J, Cooper C, Cope H, Craigen W, D’Souza P, Davids M, Davidson J, Dayal J, Dell’Angelica E, Dhar S, Dipple K, Donnell-Fink L, Dorrani N, Dorset D, Douine E, Draper D, Dries A, Eckstein D, Emrick L, Eng C, Enns G, Eskin A, Esteves C, Estwick T, Estwick T, Fernandez L, Ferreira C, Fisher P, Fogel B, Friedman N, Gahl W, Gahl W, Glanton E, Godfrey R, Goldstein D, Gould S, Gourdine J, Groden C, Gropman A, Haendel M, Hamid R, Hanchard N, Handley L, Herzog M, Holm I, Hom J, Howerton E, Huang Y, Jacob H, Jain M, Jiang Y, Johnston J, Jones A, Koeller D, Kohane I, Kohler J, Krasnewich D, Krieg E, Krier J, Kyle J, Lalani S, Lau C, Lazar J, LeBlanc K, Lee B, Lee H, Levy S, Lewis R, Lincoln S, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Maduro V, Majcherska M, Malicdan M, Mamounas L, Manolio T, Markello T, Marom R, Martin M, Martínez-Agosto J, Marwaha S, May T, McConkie-Rosell A, McCormack C, McCray A, Merker J, Metz T, Might M, Moretti P, Morimoto M, Mulvihill J, Murphy J, Muzny D, Nehrebecky M, Nelson S, Newberry J, Newman J, Nicholas S, Novacic D, Orange J, Pallais J, Palmer C, Papp J, Parker N, Pena L, Phillips J, Posey J, Postlethwait J, Potocki L, Pusey B, Reuter C, Robertson A, Rodan L, Rosenfeld J, Sampson J, Samson S, Schoch K, Schroeder M, Scott D, Sharma P, Shashi V, Silverman E, Sinsheimer J, Smith K, Spillmann R, Stoler J, Stong N, Sullivan J, Sweetser D, Tan Q, Tifft C, Toro C, Tran A, Urv T, Urv T, Valivullah Z, Valivullah Z, Vilain E, Vogel T, Vogel T, Waggott D, Wahl C, Walley N, Walsh C, Wan J, Wangler M, Ward P, Waters K, Webb-Robertson B, Westerfield M, Wheeler M, Wise A, Wolfe L, Worthey E, Yamamoto S, Yang Y, Yoon A, Yu G, Zastrow D, Zhao C, Zheng A. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative Genetics In Medicine 2018, 21: 161-172. PMID: 29907797, PMCID: PMC6295275, DOI: 10.1038/s41436-018-0044-2.
5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder.Cheng Y, Li Z, Manupipatpong S, Lin L, Li X, Xu T, Jiang YH, Shu Q, Wu H, Jin P. 5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder. Human Molecular Genetics 2018, 27: 2955-2964. PMID: 29790956, PMCID: PMC6097011, DOI: 10.1093/hmg/ddy193.
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviorsBey AL, Wang X, Yan H, Kim N, Passman RL, Yang Y, Cao X, Towers AJ, Hulbert SW, Duffney LJ, Gaidis E, Rodriguiz RM, Wetsel WC, Yin HH, Jiang YH. Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors Translational Psychiatry 2018, 8: 94. PMID: 29700290, PMCID: PMC5919902, DOI: 10.1038/s41398-018-0142-6.
Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature reviewDuffney LJ, Valdez P, Tremblay MW, Cao X, Montgomery S, McConkie‐Rosell A, Jiang Y. Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2018, 177: 426-433. PMID: 29704315, PMCID: PMC5980735, DOI: 10.1002/ajmg.b.32631.
Systematic reconstruction of autism biology from massive genetic mutation profilesLuo W, Zhang C, Jiang YH, Brouwer CR. Systematic reconstruction of autism biology from massive genetic mutation profiles Science Advances 2018, 4: e1701799. PMID: 29651456, PMCID: PMC5895441, DOI: 10.1126/sciadv.1701799.
CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviorsLiu CX, Li CY, Hu CC, Wang Y, Lin J, Jiang YH, Li Q, Xu X. CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviors Molecular Autism 2018, 9: 23. PMID: 29619162, PMCID: PMC5879542, DOI: 10.1186/s13229-018-0204-x.
Modeling autism in non‐human primates: Opportunities and challengesZhao H, Jiang Y, Zhang YQ. Modeling autism in non‐human primates: Opportunities and challenges Autism Research 2018, 11: 686-694. PMID: 29573234, PMCID: PMC6188783, DOI: 10.1002/aur.1945.
Evaluating Web-based Educational Modules on Genetic Testing for Autism among Parents of Children with Autism.Xu L, Richman AR, Mitchell LC, Luo H, Jiang YH, Roy S, Floyd AE. Evaluating Web-based Educational Modules on Genetic Testing for Autism among Parents of Children with Autism. American Journal Of Health Behavior 2018, 42: 3-12. PMID: 29973306, DOI: 10.5993/AJHB.42.4.1.
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?McConkie‐Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang Y, Cope H, Network U, Palmer C, Shashi V. Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? Journal Of Genetic Counseling 2018, 27: 935-946. PMID: 29297108, PMCID: PMC6028305, DOI: 10.1007/s10897-017-0193-5.
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literatureAbdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang YH, Mikati MA. Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature Seizure 2017, 55: 1-3. PMID: 29291456, DOI: 10.1016/j.seizure.2017.11.017.
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome modelChung L, Bey AL, Towers AJ, Cao X, Kim IH, Jiang YH. Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model Neurobiology Of Disease 2017, 110: 12-19. PMID: 29097328, PMCID: PMC5903876, DOI: 10.1016/j.nbd.2017.10.016.
A Presynaptic Function of Shank Protein in DrosophilaWu S, Gan G, Zhang Z, Sun J, Wang Q, Gao Z, Li M, Jin S, Huang J, Thomas U, Jiang YH, Li Y, Tian R, Zhang YQ. A Presynaptic Function of Shank Protein in Drosophila Journal Of Neuroscience 2017, 37: 11592-11604. PMID: 29074576, PMCID: PMC6705749, DOI: 10.1523/jneurosci.0893-17.2017.
Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizersPappas A, Bey A, Wang X, Rossi M, Kim Y, Yan H, Porkka F, Duffney L, Phillips S, Cao X, Ding J, Rodriguiz R, Yin H, Weinberg R, Ji R, Wetsel W, Jiang Y. Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers JCI Insight 2017, 2: e92052. PMID: 29046483, PMCID: PMC5846902, DOI: 10.1172/jci.insight.92052.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesPena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, Goldstein D, Shashi V, Members U, Alejandro M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Graham B, Hanchard N, Jain M, Lalani S, Lee B, Lewis R, Azamian M, Moretti P, Nicholas S, Orange J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Zhang J, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Walley N, Beggs A, Briere L, Cooper C, Donnell-Fink L, Krieg E, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walsh C, Esteves C, Holm I, Kohane I, Mazur P, McCray A, Might M, Ramoni R, Splinter K, Bick D, Birch C, Boone B, Brown D, Dorset D, Handley L, Jacob H, Jones A, Lazar J, Levy S, Newberry J, Schroeder M, Strong K, Worthey E, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Soldatos A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Dries A, Fisher P, Kohler J, Waggott D, Wheeler M, Zornio P, Allard P, Barseghyan H, Dell'Angelica E, Dillon A, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Herzog M, Lee H, Lipson A, Loo S, Martínez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Sinsheimer J, Vilain E, Zheng A, Adams C, Burke E, Chao K, Davids M, Draper D, Estwick T, Frisby T, Frost K, Gartner V, Godfrey R, Goheen M, Golas G, Gordon M, Groden C, Hackbarth M, Hardee I, Johnston J, Koehler A, Latham L, Latour Y, Lau C, Levy D, Liebendorfer A, Macnamara E, Maduro V, Markello T, McCarty A, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sadozai S, Schaffer K, Sharma P, Thomas S, Tolman N, Toro C, Valivullah Z, Wahl C, Warburton M, Weech A, Yu G, Gropman A, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Lee P, Postlethwait J, Westerfield M, Bican A, Cogan J, Hamid R, Newman J, Phillips J, Robertson A. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases Genetics In Medicine 2017, 20: 464-469. PMID: 28914269, PMCID: PMC5851806, DOI: 10.1038/gim.2017.128.
Novel clinical manifestations in patients with KCNA2 mutationsSachdev M, Gaínza-Lein M, Tchapyjnikov D, Jiang YH, Loddenkemper T, Mikati MA. Novel clinical manifestations in patients with KCNA2 mutations Seizure 2017, 51: 74-76. PMID: 28806589, DOI: 10.1016/j.seizure.2017.07.018.
Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primateZhao H, Tu Z, Xu H, Yan S, Yan H, Zheng Y, Yang W, Zheng J, Li Z, Tian R, Lu Y, Guo X, Jiang YH, Li XJ, Zhang YQ. Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate Cell Research 2017, 27: 1293-1297. PMID: 28741620, PMCID: PMC5630686, DOI: 10.1038/cr.2017.95.
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposisTan Q, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH. The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis Molecular Case Studies 2017, 3: a002063. PMID: 28729373, PMCID: PMC5701308, DOI: 10.1101/mcs.a002063.
Erratum: Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome SequencingWang Y, Du X, Bin R, Yu S, Xia Z, Zheng G, Zhong J, Zhang Y, Jiang Y, Wang Y. Erratum: Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing Scientific Reports 2017, 7: 46520. PMID: 28472029, PMCID: PMC5417344, DOI: 10.1038/srep46520.
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases NetworkSpillmann RC, McConkie-Rosell A, Pena L, Jiang YH, Undiagnosed Diseases Network, Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network Orphanet Journal Of Rare Diseases 2017, 12: 71. PMID: 28416019, PMCID: PMC5392939, DOI: 10.1186/s13023-017-0623-3.
Cellular and Circuitry Bases of Autism: Lessons Learned from the Temporospatial Manipulation of Autism Genes in the BrainHulbert SW, Jiang YH. Cellular and Circuitry Bases of Autism: Lessons Learned from the Temporospatial Manipulation of Autism Genes in the Brain Neuroscience Bulletin 2017, 33: 205-218. PMID: 28271437, PMCID: PMC5360850, DOI: 10.1007/s12264-017-0112-7.
Modifying the Autism Spectrum Rating Scale (6–18 years) to a Chinese Context: An Exploratory Factor AnalysisZhou H, Zhang L, Luo X, Wu L, Zou X, Xia K, Wang Y, Xu X, Ge X, Jiang YH, Fombonne E, Yan W, Wang Y. Modifying the Autism Spectrum Rating Scale (6–18 years) to a Chinese Context: An Exploratory Factor Analysis Neuroscience Bulletin 2017, 33: 175-182. PMID: 28238114, PMCID: PMC5360853, DOI: 10.1007/s12264-017-0104-7.
Chinese Norms for the Autism Spectrum Rating ScaleZhou H, Zhang L, Zou X, Luo X, Xia K, Wu L, Wang Y, Xu X, Ge X, Jiang YH, Fombonne E, Yan W, Wang Y. Chinese Norms for the Autism Spectrum Rating Scale Neuroscience Bulletin 2017, 33: 161-167. PMID: 28233147, PMCID: PMC5360852, DOI: 10.1007/s12264-017-0105-6.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201HMulkey SB, Ben‐Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang Y, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H Epilepsia 2017, 58: 436-445. PMID: 28139826, PMCID: PMC5339037, DOI: 10.1111/epi.13676.
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome SequencingWang Y, Du X, Bin R, Yu S, Xia Z, Zheng G, Zhong J, Zhang Y, Jiang YH, Wang Y. Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing Scientific Reports 2017, 7: 40319. PMID: 28074849, PMCID: PMC5225856, DOI: 10.1038/srep40319.
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndromeKim Y, Lee HM, Xiong Y, Sciaky N, Hulbert SW, Cao X, Everitt JI, Jin J, Roth BL, Jiang YH. Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome Nature Medicine 2016, 23: 213-222. PMID: 28024084, PMCID: PMC5589073, DOI: 10.1038/nm.4257.
SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory NeuronsHan Q, Kim YH, Wang X, Liu D, Zhang ZJ, Bey AL, Lay M, Chang W, Berta T, Zhang Y, Jiang YH, Ji RR. SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons Neuron 2016, 92: 1279-1293. PMID: 27916453, PMCID: PMC5182147, DOI: 10.1016/j.neuron.2016.11.007.
Isoform Switch of TET1 Regulates DNA Demethylation and Mouse DevelopmentZhang W, Xia W, Wang Q, Towers AJ, Chen J, Gao R, Zhang Y, Yen CA, Lee AY, Li Y, Zhou C, Liu K, Zhang J, Gu TP, Chen X, Chang Z, Leung D, Gao S, Jiang YH, Xie W. Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development Molecular Cell 2016, 64: 1062-1073. PMID: 27916660, DOI: 10.1016/j.molcel.2016.10.030.
The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho SignalingMansour M, Haupt S, Chan AL, Godde N, Rizzitelli A, Loi S, Caramia F, Deb S, Takano EA, Bishton M, Johnstone C, Monahan B, Levav-Cohen Y, Jiang YH, Yap AS, Fox S, Bernard O, Anderson R, Haupt Y. The E3-ligase E6AP Represses Breast Cancer Metastasis via Regulation of ECT2-Rho Signaling Cancer Research 2016, 76: 4236-4248. PMID: 27231202, DOI: 10.1158/0008-5472.can-15-1553.
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autismWang X, Bey AL, Katz BM, Badea A, Kim N, David LK, Duffney LJ, Kumar S, Mague SD, Hulbert SW, Dutta N, Hayrapetyan V, Yu C, Gaidis E, Zhao S, Ding JD, Xu Q, Chung L, Rodriguiz RM, Wang F, Weinberg RJ, Wetsel WC, Dzirasa K, Yin H, Jiang YH. Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism Nature Communications 2016, 7: 11459. PMID: 27161151, PMCID: PMC4866051, DOI: 10.1038/ncomms11459.
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challengeXu Q, Goldstein J, Wang P, Gadi IK, Labreche H, Rehder C, Wang WP, McConkie A, Xu X, Jiang YH. Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge Pediatric Research 2016, 80: 371-381. PMID: 27119313, PMCID: PMC5382808, DOI: 10.1038/pr.2016.101.
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed DisordersRosell AM, Pena LD, Schoch K, Spillmann R, Sullivan J, Hooper SR, Jiang Y, Mathey‐Andrews N, Goldstein DB, Shashi V. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders Journal Of Genetic Counseling 2016, 25: 1019-1031. PMID: 26868367, DOI: 10.1007/s10897-016-9933-1.
Abstract A72: The E3-ligase E6AP represses breast cancer metastasis through regulation of ECT2-Rho-GTPases signalingMansour M, Haupt S, Chan A, Godde N, Rizzitelli A, Loi S, Caramia F, Deb S, Takano E, Bishton M, Johnstone C, Levav-Cohen Y, Jiang Y, Yap A, Fox S, Bernard O, Anderson R, Haupt Y. Abstract A72: The E3-ligase E6AP represses breast cancer metastasis through regulation of ECT2-Rho-GTPases signaling Molecular Cancer Research 2016, 14: a72-a72. DOI: 10.1158/1557-3125.advbc15-a72.
Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing linksHulbert SW, Jiang Y. Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links Neuroscience 2015, 321: 3-23. PMID: 26733386, PMCID: PMC4803542, DOI: 10.1016/j.neuroscience.2015.12.040.
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S. Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. Clinical Genetics 2015, 88: 597-9. PMID: 25823418, DOI: 10.1111/cge.12581.
Quinidine in the treatment of KCNT1‐positive epilepsiesMikati MA, Jiang YH, Carboni M, Shashi V, Petrovski S, Spillmann R, Milligan CJ, Li M, Grefe A, McConkie A, Berkovic S, Scheffer I, Mullen S, Bonner M, Petrou S, Goldstein D. Quinidine in the treatment of KCNT1‐positive epilepsies Annals Of Neurology 2015, 78: 995-999. PMID: 26369628, PMCID: PMC4811613, DOI: 10.1002/ana.24520.
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresTanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, Jiang YH, McConkie-Rosell A, Schaefer GB, Kaylor J, Rahman OA, Telegrafi A, Friedman B, Douglas G, Monaghan KG, Chung WK. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features Molecular Case Studies 2015, 2: a000661. PMID: 27148580, PMCID: PMC4849844, DOI: 10.1101/mcs.a000661.
Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient miceChung L, Wang X, Zhu L, Towers AJ, Cao X, Kim IH, Jiang YH. Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice Brain Research 2015, 1629: 340-350. PMID: 26474913, PMCID: PMC4744651, DOI: 10.1016/j.brainres.2015.10.015.
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionPetrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition Molecular Case Studies 2015, 1: a000257. PMID: 27148561, PMCID: PMC4850896, DOI: 10.1101/mcs.a000257.
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencingShashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing Molecular Case Studies 2015, 1: a000265. PMID: 27148562, PMCID: PMC4850881, DOI: 10.1101/mcs.a000265.
Validity and reliability analysis of the Chinese parent version of the Autism Spectrum Rating Scale (6–18 years)Zhou H, Zhang L, Wu L, Zou X, Luo X, Xia K, Wang Y, Xu X, Ge X, Sun C, Deng H, Fombonne E, Jiang YH, Yan W, Wang Y. Validity and reliability analysis of the Chinese parent version of the Autism Spectrum Rating Scale (6–18 years) Psychiatry Research 2015, 230: 255-261. PMID: 26384573, DOI: 10.1016/j.psychres.2015.09.003.
Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics ClinicWang Y, Wang P, Xu X, Goldstein J, McConkie A, Cheung S, Jiang Y. Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic 2015, 33-66. DOI: 10.1007/978-1-4939-2190-4_4.
Practical considerations in the clinical application of whole‐exome sequencingShashi V, McConkie‐Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Practical considerations in the clinical application of whole‐exome sequencing Clinical Genetics 2015, 89: 173-181. PMID: 25678066, DOI: 10.1111/cge.12569.
Adult Surgical Experience With Loeys-Dietz SyndromeWilliams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, Wechsler SB, Zomorodi A, McCann RL, Hughes GC. Adult Surgical Experience With Loeys-Dietz Syndrome The Annals Of Thoracic Surgery 2015, 99: 1275-1281. PMID: 25678502, DOI: 10.1016/j.athoracsur.2014.11.021.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosZhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios Genetics In Medicine 2015, 17: 774-781. PMID: 25590979, PMCID: PMC4791490, DOI: 10.1038/gim.2014.191.
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.Prasun P, Young S, Salomons G, Werneke A, Jiang YH, Struys E, Paige M, Avantaggiati ML, McDonald M. Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. JIMD Reports 2015, 19: 111-5. PMID: 25614306, PMCID: PMC4501236, DOI: 10.1007/8904_2014_378.
A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and ArrhythmogenesisHennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS. A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis PLOS ONE 2014, 9: e106982. PMID: 25184293, PMCID: PMC4153713, DOI: 10.1371/journal.pone.0106982.
Overview of Mouse Models of Autism Spectrum DisordersBey AL, Jiang Y. Overview of Mouse Models of Autism Spectrum Disorders Current Protocols In Pharmacology 2014, 66: 5.66.1-5.66.26. PMID: 25181011, PMCID: PMC4186887, DOI: 10.1002/0471141755.ph0566s66.
Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics eraJiang YH, Wang Y, Xiu X, Choy KW, Pursley AN, Cheung SW. Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era Critical Reviews In Clinical Laboratory Sciences 2014, 51: 249-262. PMID: 24878448, PMCID: PMC5937018, DOI: 10.3109/10408363.2014.910747.
A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionDu X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y. A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion BMC Medical Genomics 2014, 15: 62. PMID: 24885232, PMCID: PMC4061518, DOI: 10.1186/1471-2350-15-62.
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant miceWang X, Xu Q, Bey AL, Lee Y, Jiang YH. Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice Molecular Autism 2014, 5: 30. PMID: 25071925, PMCID: PMC4113141, DOI: 10.1186/2040-2392-5-30.
Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndromeHayrapetyan V, Castro S, Sukharnikova T, Yu C, Cao X, Jiang YH, Yin HH. Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome European Journal Of Neuroscience 2013, 39: 1018-1025. PMID: 24329862, PMCID: PMC5937017, DOI: 10.1111/ejn.12442.
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disordersZhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH. Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders Human Molecular Genetics 2013, 23: 1563-1578. PMID: 24186872, PMCID: PMC3929093, DOI: 10.1093/hmg/ddt547.
A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes CorrelatesHennessey J, Jiang Y, Miller J, Stadt H, Patrick W, Pfeiffer R, Antzelevitch C, Kanter R, Pitt G. A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates Heart Rhythm 2013, 10: 1745. DOI: 10.1016/j.hrthm.2013.09.026.
Therapeutic approaches for shankopathiesWang X, Bey AL, Chung L, Krystal AD, Jiang Y. Therapeutic approaches for shankopathies Developmental Neurobiology 2013, 74: 123-135. PMID: 23536326, PMCID: PMC3883807, DOI: 10.1002/dneu.22084.
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of EncephalopathyRuzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Neuron 2013, 80: 429-441. PMID: 24139043, PMCID: PMC3820368, DOI: 10.1016/j.neuron.2013.08.013.
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disordersShashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DB. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders Genetics In Medicine 2013, 16: 176-182. PMID: 23928913, DOI: 10.1038/gim.2013.99.
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome SequencingJiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW. Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing American Journal Of Human Genetics 2013, 93: 249-263. PMID: 23849776, PMCID: PMC3738824, DOI: 10.1016/j.ajhg.2013.06.012.
c‑Abl Phosphorylates E6AP and Regulates Its E3 Ubiquitin Ligase ActivityChan A, Grossman T, Zuckerman V, Di Giammartino D, Moshel O, Scheffner M, Monahan B, Pilling P, Jiang Y, Haupt S, Schueler-Furman O, Haupt Y. c‑Abl Phosphorylates E6AP and Regulates Its E3 Ubiquitin Ligase Activity Biochemistry 2013, 52: 3119-3129. PMID: 23581475, DOI: 10.1021/bi301710c.
Epigenetic Therapies in Neurological DiseasesHuang H, Philpot B, Jiang Y. Epigenetic Therapies in Neurological Diseases 2013, 167-193. DOI: 10.1007/978-3-642-36827-1_8.
Modeling Autism by SHANK Gene Mutations in MiceJiang YH, Ehlers MD. Modeling Autism by SHANK Gene Mutations in Mice Neuron 2013, 78: 8-27. PMID: 23583105, PMCID: PMC3659167, DOI: 10.1016/j.neuron.2013.03.016.
The Angelman Syndrome Protein Ube3a Is Required for Polarized Dendrite Morphogenesis in Pyramidal NeuronsMiao 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.
Chapter 4.1 Mouse Behavioral Models for Autism Spectrum DisordersWetsel 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.
Synaptic Plasticity in Mouse Models of Autism Spectrum DisordersChung 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.
The E6AP E3 ubiquitin ligase regulates the cellular response to oxidative stressWolyniec 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.
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibilityBi 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.
E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesisWolyniec 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.
E6AP is required for replicative and oncogene-induced senescence in mouse embryo fibroblastsLevav-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.
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3Wang 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.
Pseudometabolic presentation of dystrophinopathy due to a missense mutationVeerapandiyan 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.
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3Jiang 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.
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndromeSu 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.
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girlJiang 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.
E6AP promotes the degradation of the PML tumor suppressorLouria-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.
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)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.
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionJiang 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.
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylationvan 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.
EPIGENETICS AND HUMAN DISEASEJiang 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.
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AJiang 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.
Human disorders of ubiquitination and proteasomal degradationJiang 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.
Autism as a disorder of neural information processing: directions for research and targets for therapyBelmonte 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.
Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cellsTsai 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.
Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation SyndromeWeeber 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.
Requirement of e6ap and the features of human papillomavirus e6 necessary to support degradation of p53Cooper 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.
A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent EvolutionBeaudet 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.
Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in ReproductionSmith 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.
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 MiceCummings 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.
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 SyndromeTsai 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.
Genetics of Angelman SyndromeJiang 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.
Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term PotentiationJiang 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.
Imprinting in Angelman and Prader-Willi syndromesJiang 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.
The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical RegionSutcliffe J, Jiang Y, Galjaard R, Matsuura T, Fang P, Kubota T, Christian S, Bressler J, Cattanach B, Ledbetter D, Beaudet A. The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region Genome Research 1997, 7: 368-377. PMID: 9110176, PMCID: PMC139148, DOI: 10.1101/gr.7.4.368.
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndromeMatsuura T, Sutcliffe J, Fang P, Galjaard R, Jiang Y, Benton C, Rommens J, Beaudet A. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome Nature Genetics 1997, 15: 74-77. PMID: 8988172, DOI: 10.1038/ng0197-74.

Clinical Trials

Conditions	Study Title
Diseases of the Endocrine System; Genetics - Pediatric	Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)
Children's Health; Genetics - Pediatric	Pediatric Genomics Discovery Program (PGDP)

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Yong-Hui Jiang, MD, PhD

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