作者： Zhou Zhang ; Yinan Zheng ; Xu Zhang ; Cong Liu ; Brian Thomas Joyce…

刊名：Human Genetics

出版年：2016

作者：Danny Challis (1) (2) (3)
Lilian Antunes (1) (2) (4)
Erik Garrison (5)
Eric Banks (6)
Uday S Evani (1) (2) (7)
Donna Muzny (1) (2)
Ryan Poplin (6)
Richard A Gibbs (1) (2)
Gabor Marth (5) (8)
Fuli Yu (1) (2) (9)

1. Human Genome Sequencing Center ; Baylor College of Medicine ; Houston ; TX ; 77030 ; USA
2. Department of Molecular and Human Genetics ; Baylor College of Medicine ; Houston ; TX ; 77030 ; USA
3. Present address ; Monsanto Company ; Ankeny ; IA ; 50021 ; USA
4. Present address ; Washington University School of Medicine ; Saint Louis ; MO ; 63110 ; USA
5. Department of Biology ; Boston College ; Wellcome Trust Sanger Institute ; Chestnut Hill ; MA ; 02467 ; USA
6. Program in Medical and Population Genetics ; Broad Institute of Harvard and MIT ; Cambridge ; MA ; 02142 ; USA
7. Present address ; New York Genome Center ; New York ; NY ; 10013 ; USA
8. Present address ; Department of Human Genetics and Utah Center for Genetic Discovery ; University of Utah School of Medicine ; Salt Lake City ; UT ; 84112 ; USA
9. Institute of Neurology ; Tianjin Medical University General Hospital ; Tianjin ; 300052 ; China

关键词：INDEL ; 1000 Genomes Project ; Distribution ; Mutagenesis

刊名：BMC Genomics

出版年：2015

作者：Yonsik Kwak (1) (2)
Yun-ji Kim (1) (2)
Jinchuan Xing (3) (4)
Kyudong Han (1) (2)

1. Department of Nanobiomedical Science & BK21 PLUS NBM Global Research Center for Regenerative Medicine ; Dankook University ; Cheonan ; 330-714 ; Republic of Korea
2. DKU-Theragen Institute for NGS Analysis (DTiNa) ; Cheonan ; 330-714 ; Republic of Korea
3. Department of Genetics ; Rutgers ; The State University of New Jersey ; Piscataway ; NJ ; 08854 ; USA
4. Human Genetics Institute of New Jersey ; Rutgers ; The State University of New Jersey ; Piscataway ; NJ ; 08854 ; USA

关键词：SVA element ; SVA2 element ; Primate ; Evolutionary history

刊名：Genes & Genomics

出版年：2015

作者：Stephen Nayfach (1) (2)
Katherine S Pollard (1) (2) (3) (4)

1. Integrative Program in Quantitative Biology ; University of California ; San Francisco ; CA ; 94158 ; USA
2. Gladstone Institutes ; San Francisco ; CA ; 94158 ; USA
3. Institute for Human Genetics ; University of California ; San Francisco ; CA ; 94158 ; USA
4. Department of Epidemiology and Biostatistics ; University of California ; San Francisco ; CA ; 94158 ; USA

刊名：Genome Biology

出版年：2015

作者：Jay P. Patel (1)
Jennifer M. Puck (2)
Rajgopal Srinivasan (3)
Christina Brown (4)
Uma Sunderam (3)
Kunal Kundu (3)
Steven E. Brenner (5)
Richard A. Gatti (4)
Joseph A. Church (6)

1. Division of General Pediatrics ; Children鈥檚 Hospital of Los Angeles ; Los Angeles ; CA ; USA
2. Department of Pediatrics and Institute for Human Genetics ; University of California ; San Francisco and UCSF Benioff Children鈥檚 Hospital ; San Francisco ; CA ; USA
3. Tata Consultancy Services Ltd. ; Hyderabad ; Telengana ; India
4. Departments of Human Genetics and Pathology & Laboratory Medicine ; David Geffen School of Medicine ; University of California ; Los Angeles ; CA ; USA
5. Department of Plant and Microbial Biology ; University of California ; Berkeley ; CA ; USA
6. Division of Clinical Immunology and Allergy ; Children鈥檚 Hospital of Los Angeles ; Keck School of Medicine ; University of Southern California ; Los Angeles ; CA ; USA

关键词：Nijmegen breakage syndrome ; TREC ; SCID ; exome sequencing ; nibrin ; T lymphopenia

刊名：Journal of Clinical Immunology

出版年：2015

作者：Rajbir K Athwal (2) (3)
Marcin P Walkiewicz (2) (3)
Songjoon Baek (3)
Song Fu (2) (3)
Minh Bui (2) (3)
Jordi Camps (4)
Thomas Ried (4)
Myong-Hee Sung (3)
Yamini Dalal (2)

2. Chromatin Structure and Epigenetics Mechanisms Unit ; Center for Cancer Research ; National Cancer Institute National Institutes of Health ; 41 Center Drive ; Bethesda ; MD ; 20892 ; USA
3. Laboratory of Receptor Biology and Gene Expression ; Center for Cancer Research ; National Cancer Institute National Institutes of Health ; 41 Center Drive ; Bethesda ; MD ; 20892 ; USA
4. Genetics Branch ; Center for Cancer Research ; National Cancer Institute National Institutes of Health ; 50 South Drive ; Bethesda ; MD ; 20892 ; USA

刊名：Epigenetics & Chromatin

出版年：2015

作者：Michelle M. Pacis (1)
Chelsea N. Fortin (2)
Shvetha M. Zarek (3)
Sunni L. Mumford (4)
James H. Segars (3)

1. Department of Obstetrics and Gynecology ; Dartmouth-Hitchcock Medical Center ; One Medical Center Drive ; Lebanon ; NH ; 03756 ; USA
2. School of Medicine ; Wayne State University ; 540 East Canfield Street ; Detroit ; MI ; 48201 ; USA
3. Program in Reproductive and Adult Endocrinology ; Eunice Kennedy Shriver National Institute of Child Health and Human Development ; National Institutes of Health ; 10 CRC Room 1E-3140 ; 10 Center Drive ; MSC 1109 ; Bethesda ; MD ; 20882 ; USA
4. Division of Intramural Population Health Research ; Eunice Kennedy Shriver National Institute of Child Health and Human Development ; National Institutes of Health ; 6100 Executive Blvd 7B03 ; Rockville ; MD ; 20852 ; USA

关键词：Vitamin D ; Assisted reproductive technology ; ART ; In vitro fertilization ; IVF

刊名：Journal of Assisted Reproduction and Genetics

出版年：2015

作者：Daniel Magee (1) (2)
Rachel Beard (1) (2)
Marc A. Suchard (3) (5)
Philippe Lemey (4)
Matthew Scotch (1) (2)

1. Department of Biomedical Informatics ; Arizona State University ; 13212 E. Shea Blvd. ; Scottsdale ; 85259 ; AZ ; USA
2. Center for Environmental Security and Security and Defense Systems Initiative ; Biodesign Institute ; Arizona State University ; P.O. Box 875904 ; Tempe ; 85287-5904 ; AZ ; USA
3. Departments of Biomathematics and Human Genetics ; David Geffen School of Medicine ; University of California ; Los Angeles ; Los Angeles ; CA ; USA
5. Department of Biostatistics ; UCLA Fielding School of Public Health ; University of California ; Los Angeles ; Los Angeles ; CA ; USA
4. Department of Microbiology and Immunology ; KU Leuven ; Leuven ; Belgium

刊名：Archives of Virology

出版年：2015

作者：Julianne E. Hartmann (1)
Patricia McCarthy Veach (2)
Ian M. MacFarlane (3)
Bonnie S. LeRoy (4)

1. University of Nebraska Medical Center ; Omaha ; NE ; USA
2. Department of Educational Psychology ; University of Minnesota ; 250 Education Sciences Building ; 56 E. River Road ; Minneapolis ; MN ; 55455 ; USA
3. Department of Educational Psychology ; University of Minnesota ; Minneapolis ; MN ; USA
4. Department of Genetics ; Cell Biology ; and Development ; Institute of Human Genetics ; University of Minnesota ; Minneapolis ; MN ; USA

关键词：Genetic counseling goals ; Reciprocal ; Engagement Model ; Models of practice ; Process goals ; Outcome goals ; Genetic counseling models

刊名：Journal of Genetic Counseling

出版年：2015

作者：Rebecca Nagy (1) (2) (3)
Matthew D. Ringel (1) (2) (4)

1. Divison of Human Genetics ; The Ohio State University College of Medicine and Arthur G. James Comprehensive Cancer Center and Richard G. Solove Research Institute ; Columbus ; OH ; 43210 ; USA
2. Division of Endocrinology ; Diabetes ; and Metabolism ; Department of Internal Medicine ; The Ohio State University College of Medicine and Arthur G. James Comprehensive Cancer Center and Richard G. Solove Research Institute ; Columbus ; OH ; 43210 ; USA
3. Department of Internal Medicine ; Division of Human Genetics ; The Ohio State University Wexner Medical Center ; 2001 Polaris Parkway ; Columbus ; OH ; 43240 ; USA
4. Department of Internal Medicine ; Division of Endocrinology ; Metabolism and Diabetes ; The Ohio State University Wexner Medical Center ; 1581 Dodd Drive ; McCampbell Hall room 565 ; Columbus ; OH ; 43210 ; USA

刊名：Hormones and Cancer

出版年：2015