Publications by authors named "Sat D Batish"

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Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases.
Zöe Powis, Jonathon Lutz, Khalida Liaquat, Jyes A Querubin, Sat Dev Batish

Am J Med Genet A· March 2025

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LRP4 antibody testing in myasthenia gravis.
Michael K Racke, Sat Dev Batish, Robert P Lisak, Richard J Barohn

J Neuroimmunol· October 2022

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Limbic encephalitis in a child with ovarian teratoma and influenza B. Case report and critical review of the history of autoimmune anti-N-methyl-d-aspartate receptor encephalitis.
Oliver Phillips, Teddi Tubre, Hillary Lorenco, Sat Dev Batish, William Brown

J Neuroimmunol· November 2021

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Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?
Shideh Majidi, Alexandra Fouts, Laura Pyle, Christina Chambers, Taylor Armstrong, Sat Dev Batish

Diabetes Technol Ther· February 2018

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Characteristics of maturity onset diabetes of the young in a large diabetes center.
Christina Chambers, Alexandra Fouts, Fran Dong, Kevin Colclough, Zhenyuan Wang, Sat Dev Batish

Pediatr Diabetes· August 2016

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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Izabela Karbassi, Glenn A Maston, Angela Love, Christina DiVincenzo, Corey D Braastad, Sat Dev Batish

Hum Mutat· January 2016

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The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Christina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, Izabela Karbassi, Jeremiah R Jones, Sat D Batish

Mol Genet Genomic Med· November 2014

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The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Philip M Boone, Bo Yuan, Ian M Campbell, Jennifer C Scull, Marjorie A Withers, Sat Dev Batish

Am J Hum Genet· August 2014

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Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9.
Teresa M Lee, Mathew S Maurer, Izabela Karbassi, Corey Braastad, Sat D Batish

Congest Heart Fail· September 2012

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Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish

Hum Mutat· March 2012

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Technical standards and guidelines for spinal muscular atrophy testing.
Thomas W Prior, Narasimhan Nagan, Elaine A Sugarman, Sat Dev Batish, Corey Braastad

Genet Med· July 2011

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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Garth Nicholson, Guy M Lenk, Stephen W Reddel, Adrienne E Grant, Charles F Towne, Sat D Batish

Brain· July 2011

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The Alzheimer's Association external quality control program for cerebrospinal fluid biomarkers.
Niklas Mattsson, Ulf Andreasson, Staffan Persson, Hiroyuki Arai, Sat Dev Batish

Alzheimers Dement· July 2011

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Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
Philip M Boone, Pengfei Liu, Feng Zhang, Claudia M B Carvalho, Charles F Towne, Sat Dev Batish

Genet Med· June 2011

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Polycystic ovaries and adrenal insufficiency in a young pubescent female with lipoid congenital adrenal hyperplasia due to splice mutation of the StAR gene: a case report and review of the literature.
Cayce T Jehaimi, Virginia C Araiza, Sat D Batish, Patrick G Brosnan

J Pediatr Endocrinol Metab· December 2010

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Novel MPZ mutations and congenital hypomyelinating neuropathy.
Hugh J McMillan, Sandro Santagata, Frederic Shapiro, Sat Dev Batish, Libby Couchon

Neuromuscul Disord· November 2010

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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
Claudia Gonzaga-Jauregui, Feng Zhang, Charles F Towne, Sat Dev Batish, James R Lupski

Neurogenetics· October 2010

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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A J Weterman, Claudia Gonzaga-Jauregui, Sat Dev Batish

Am J Hum Genet· June 2010

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Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Jianfeng Xiao, Y Zhao, Robert W Bastian, Joel S Perlmutter, Brad A Racette, Sat Dev Batish

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Jianfeng Xiao, Yu Zhao, Robert W Bastian, Joel S Perlmutter, Brad A Racette, Sat Dev Batish

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Jianfeng Xiao, Yu Zhao, Robert W Bastian, Joel S Perlmutter, Brad A Racette, Sat Dev Batish

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Jianfeng Xiao, Yu Zhao, Robert W Bastian, Joel S Perlmutter, Brad A Racette, Sat Dev Batish

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Jianfeng Xiao, Robert W Bastian, Joel S Perlmutter, Brad A Racette, Samer D Tabbal, Sat Dev Batish

Hum Genet· April 2010

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Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
Abdullah Mahmood Ali, Michelle Kirby, Michael Jansen, Francis P Lach, Jennifer Schulte, Sat D Batish

Hum Mutat· July 2009

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish

Nat Genet· July 2009

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