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    Academic Journals

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• Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.

  Authors:Derek J.C. Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, Xander Nuttle, et al.From:American Journal of Human Genetics (Vol. 109, Issue 10) Peer-Reviewed

  Oct. 6, 2022543 words Report

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• Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.

  Authors:Jong-Min Lee, Yuan Huang, Michael Orth, Tammy Gillis, Jacqueline Siciliano, Eunpyo Hong, et al.From:American Journal of Human Genetics (Vol. 109, Issue 5) Peer-Reviewed

  May 5, 2022584 words Report

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• Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

  Authors:Michael E. Talkowski, Juan Pablo Lopez, Marcy E. MacDonald, Manolis Kellis, Carl Ernst, James F. Gusella, et al.From:American Journal of Human Genetics (Vol. 91, Issue 6) Peer-Reviewed

  Dec. 7, 201253 words Article

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• Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes

  Authors:Susan A. Slaugenhaupt, James S. Acierno, Jr., Lisa Anne Helbling, Catherine Bove, Ehud Goldin, Gideon Bach, et al.From:American Journal of Human Genetics (Vol. 65, Issue 3) Peer-Reviewed

  Sept. 199974 words Article

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• Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.

  Authors:Renee R. Handley, Suzanne J. Reid, Rudiger Brauning, Paul Maclean, Emily R. Mears, Imche Fourie, et al.From:Proceedings of the National Academy of Sciences of the United States (Vol. 114, Issue 52) Peer-Reviewed

  Dec. 26, 201710,346 words Report 1460L

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• Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. (Report)

  Authors:Math P. Cuajungco, Maire Leyne, James Mull, Sandra P. Gill, Weining Lu, David Zagzag, et al.From:American Journal of Human Genetics (Vol. 72, Issue 3) Peer-Reviewed

  Mar. 2003 Article

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• Copy Number Variation in Familial Parkinson Disease

  Authors:Nathan Pankratz, Alexandra Dumitriu, Kurt N. Hetrick, Mei Sun, Jeanne C. Latourelle, Jemma B. Wilk, et al.From:PLoS ONE (Vol. 6, Issue 8) Peer-Reviewed

  Aug. 2, 20119,294 words Article 1350LCopy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single...

• Huntington's disease and repeating trinucleotides

  Authors:James F. Gusella and Marcy E. MacDonaldFrom:The New England Journal of Medicine (Vol. 330, Issue 20) Peer-Reviewed

  May 19, 199490 words Editorial

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• Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

  Authors:Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, et al.From:American Journal of Human Genetics (Vol. 92, Issue 2) Peer-Reviewed

  Feb. 7, 201335 words Report

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• Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project

  Authors:Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, et al.From:American Journal of Human Genetics (Vol. 82, Issue 3) Peer-Reviewed

  Mar. 200839 words Article

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• Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

  Authors:Vadim Alexandrov, Dani Brunner, Liliana B. Menalled, Andrea Kudwa, Judy Watson- Johnson, Matthew Mazzella, et al.From:Nature Biotechnology (Vol. 34, Issue 8) Peer-Reviewed

  Aug. 20169,992 words Report 1470LRapid technological advances for the frequent monitoring of health parameters have raised the intriguing possibility that an individual's genotype could be predicted from phenotypic data alone. Here we used a machine...

• CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset

  Authors:Jong-Min Lee, Kevin Correia, Jacob Loupe, Kyung-Hee Kim, Douglas Barker, Eun Pyo Hong, et al.From:Cell (Vol. 178, Issue 4) Peer-Reviewed

  Aug. 8, 2019332 words Report

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• Clinical diagnosis by whole-genome sequencing of a prenatal sample

  Authors:Michael E. Talkowski, Cynthia C. Morton, James F. Gusella, Louise E. Wilkins-Haug, Lisa G. Shaffer, Jill A. Rosenfeld, et al.From:The New England Journal of Medicine (Vol. 367, Issue 23) Peer-Reviewed

  Dec. 6, 201244 words Case study

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• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

  Authors:Hyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, Reinhard Ullmann, Hyun-Taek Kim, Anita Kulharya, et al.From:American Journal of Human Genetics (Vol. 87, Issue 4) Peer-Reviewed

  Oct. 8, 201063 words Report

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• Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

  Authors:Irene Pichler, Fabio Marroni, Claudia Beu Volpato, James F. Gusella, Christine Klein, Giorgio Casari, et al.From:American Journal of Human Genetics (Vol. 79, Issue 4) Peer-Reviewed

  Oct. 200649 words Article

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• Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

  Authors:Jeffrey D. Long, Jong-Min Lee, Elizabeth H. Aylward, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Kawther Abu Elneel, et al.From:American Journal of Human Genetics (Vol. 103, Issue 3) Peer-Reviewed

  Sept. 6, 2018481 words Report

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• Immunohistochemical localization of the D1 dopamine receptor in rat brain reveals its axonal transport, pre- and postsynaptic localization, and prevalence in the basal ganglia, limbic system, and thalamic reticular nucleus

  Authors:Qin Huang, Dan Zhou, Kathy Chase, James F. Gusella, Neil Aronin, and Marian DiFigliaFrom:Proceedings of the National Academy of Sciences of the United States (Vol. 89, Issue 24) Peer-Reviewed

  Dec. 15, 199294 words Article

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• A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

  Authors:James A. Trofatter, Mia M. MacCollin, Joni L. Rutter, Jill R. Murrell, Mabel P. Duyao, Dilys M. Parry, et al.From:Cell (Vol. 72, Issue 5) Peer-Reviewed

  Mar. 12, 199385 words Article

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• Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

  Authors:Hyung-Goo Kim, Ingo Kurth, Fei Lan, Irene Meliciani, Wolfgang Wenzel, Soo Hyun Eom, et al.From:American Journal of Human Genetics (Vol. 83, Issue 4) Peer-Reviewed

  Oct. 10, 200844 words Article

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• Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

  Authors:Ravikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatt, Jason Willer, Edward R. Horton, Eleni P. Asimacopoulos, et al.From:Proceedings of the National Academy of Sciences of the United States (Vol. 111, Issue 50) Peer-Reviewed

  Dec. 16, 2014265 words Report, Author abstr...

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