T. Chiang

发表

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

C. Shaw, J. Lupski, R. Gibbs, 2016, Nucleic acids research.

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

Michael R Knowles, Pierre-Yves Boëlle, Fred A Wright, 2012, Nature Genetics.

A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis

Charles Rohde, Theodore Chiang, Lisa J Strug, 2010, European Journal of Human Genetics.

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

Jingyue Ju, James J Russo, Theodore Chiang, 2009, European Journal of Human Genetics.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, C. Shaw, J. Lupski, 2020, Genetics in Medicine.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic

Andriy Derkach, Ian Tomlinson, Lisa J. Strug, 2014, Bioinform..

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

In vivo modeling of metastatic human high-grade serous ovarian cancer in mice

R. Bast, B. Vanderhyden, C. Creighton, 2020, PLoS genetics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms

R. Weksberg, S. Pu, S. Wodak, 2011, Epigenetics.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci

E. Novotny, D. Mandelbaum, L. Strug, 2014, Genes, brain, and behavior.

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24

Steven Gallinger, Vincent Ferretti, Brent W Zanke, 2007, Nature Genetics.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities

Theodore Chiang, Lisa J. Strug, Jiafen Gong, 2013, Human Genetics.

Specific Variants in the MLH1 Gene Region May Drive DNA Methylation, Loss of Protein Expression, and MSI-H Colorectal Cancer

A. Paterson, T. Hudson, C. Greenwood, 2010, PloS one.

Exome Sequencing in the Clinical Setting

Magalie S Leduc, Yaping Yang, M. Leduc, 2017 .

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.

The Genetics of Reading Disability in an Often Excluded Sample: Novel Loci Suggested for Reading Disability in Rolandic Epilepsy

E. Novotny, D. Mandelbaum, L. Strug, 2012, PloS one.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Alexander Fedotov, Simon White, Eric Boerwinkle, 2018, Genetics in Medicine.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities

Melissa R. Miller, J. Rommens, L. Strug, 2014, Human Genetics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S Leduc, S. Murray, J. Seavitt, 2016, American journal of medical genetics. Part A.

Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic

R. Houlston, I. Tomlinson, L. Strug, 2014, Bioinform..