作者：Ghunwa Nakouzi (1)
Khalil Kreidieh (2)
Soha Yazbek (2)

1. Department of Clinical Pathology ; Cleveland Clinic Hospital ; Cleveland ; OH ; USA
2. Medical Laboratory Sciences Program ; Faculty of Health Sciences ; American University of Beirut ; P.O Box 11-0236 ; Riad El Solh ; 1107 2020 ; Beirut ; Lebanon

关键词：Genetic disorders ; Lebanon ; Community genetics ; Genetic services ; Public health

刊名：Journal of Community Genetics

出版年：2015

作者：Xin Wang (1) (2)
Adrian M. Dubuc (1) (2)
Vijay Ramaswamy (1) (2) (3)
Stephen Mack (1) (2)
Deena M. A. Gendoo (4)
Marc Remke (1) (2)
Xiaochong Wu (1)
Livia Garzia (1)
Betty Luu (1)
Florence Cavalli (1)
John Peacock (1) (2)
Borja L贸pez (1)
Patryk Skowron (1) (2)
David Zagzag (5)
David Lyden (6)
Caitlin Hoffman (1) (7)
Yoon-Jae Cho (8)
Charles Eberhart (9)
Tobey MacDonald (10)
Xiao-Nan Li (11)
Timothy Van Meter (12)
Paul A. Northcott (13)
Benjamin Haibe-Kains (14) (4)
Cynthia Hawkins (15)
James T. Rutka (7)
Eric Bouffet (3)
Stefan M. Pfister (13)
Andrey Korshunov (16)
Michael D. Taylor (1) (7)

1. Developmental and Stem Cell Biology Program ; The Hospital for Sick Children ; University of Toronto ; Toronto ; ON ; Canada
2. Department of Laboratory Medicine and Pathobiology ; University of Toronto ; Toronto ; ON ; Canada
3. Division of Haematology/Oncology ; Hospital for Sick Children ; Toronto ; ON ; Canada
4. Bioinformatics and Computational Genomics Laboratory ; Princess Margaret Cancer Centre ; University Health Network ; Toronto ; ON ; Canada
5. Departments of Pathology and Neurosurgery ; NYU Langone Medical Center ; New York ; NY ; USA
6. Departments of Pediatrics ; Cell and Developmental Biology ; Weill Medical College of Cornell University ; New York ; NY ; USA
7. Division of Neurosurgery ; Hospital for Sick Children ; 555 University Ave ; Ste 1503 ; Toronto ; ON ; M5C 1X8 ; Canada
8. Department of Neurology and Neurological Sciences ; Stanford University School of Medicine ; Stanford ; CA ; USA
9. Departments of Pathology ; Ophthalmology and Oncology ; John Hopkins University School of Medicine ; Baltimore ; MD ; USA
10. Pediatric Neuro-Oncology Program ; Emory University School of Medicine ; Atlanta ; GA ; USA
11. Department of Pediatrics ; Brain Tumor Program ; Children鈥檚 Cancer Center ; Baylor College of Medicine ; Houston ; TX ; USA
12. Department of Pediatrics ; Virginia Commonwealth University School of Medicine ; Richmond ; VA ; USA
13. Division of Pediatric Neurooncology ; Department of Pediatric Hematology and Oncology ; German Cancer Consortium (DKTK) ; German Cancer Research Center (DKFZ) ; Heidelberg University Hospital ; Heidelberg ; Germany
14. Department of Medical Biophysics ; University of Toronto ; Toronto ; ON ; Canada
15. Department of Pathology ; Hospital for Sick Children ; Toronto ; ON ; Canada
16. Clinical Cooperation Unit Neuropathology ; German Cancer Research Center (DKFZ) ; Heidelberg ; Germany

关键词：Medulloblastoma ; Metastasis ; Molecular subgroups ; Integrative genomics ; Gene expression ; DNA methylation

刊名：Acta Neuropathologica

出版年：2015

作者：Elisa Boscolo (1) (2)
Silvia Coma (1)
Valerie L. Luks (3)
Arin K. Greene (4)
Michael Klagsbrun (1)
Matthew L. Warman (3)
Joyce Bischoff (1)

1. Vascular Biology Program and Department of Surgery ; Boston Children鈥檚 Hospital ; Harvard Medical School ; Boston ; MA ; 02115 ; USA
2. Cancer and Blood Diseases Institute ; Cincinnati Children鈥檚 Hospital Medical Center ; Cincinnati ; OH ; USA
3. Departments of Orthopedic Surgery and Genetics and the Vascular Anomalies Center ; Boston Children鈥檚 Hospital ; Harvard Medical School ; Boston ; MA ; USA
4. Department of Plastic and Oral Surgery and Vascular Anomalies Center ; Boston Children鈥檚 Hospital and Harvard Medical School ; Boston ; MA ; USA

关键词：Vascular anomaly ; Lymphatic vessels ; PI3K ; Rapamycin ; AKT

刊名：Angiogenesis

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：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：McKinsey L. Goodenberger (1)
Brittany C. Thomas (2)
Karen E. Wain (1)

1. Division of Cytogenetics ; Department of Laboratory Medicine and Pathology ; Mayo Clinic ; Rochester ; MN ; USA
2. Division of Molecular Genetics ; Department of Laboratory Medicine and Pathology ; Mayo Clinic ; Rochester ; MN ; USA

关键词：Laboratory genetic counseling ; Laboratory genetic counselor ; Counseling skills ; Training program curriculum

刊名：Journal of Genetic Counseling

出版年：2015

作者：Bijal A Balasubramanian (1) (2)
Deborah J Cohen (3)
Melinda M Davis (3)
Rose Gunn (3)
L Miriam Dickinson (4)
William L Miller (5)
Benjamin F Crabtree (6)
Kurt C Stange (7)

1. Department of Epidemiology ; Human Genetics ; and Environmental Sciences ; University of Texas Health Science Center Houston School of Public Health ; Dallas Regional Campus ; 5323 Harry Hines Blvd ; V8.112 ; Dallas ; TX ; 75390 ; USA
2. Harold Simmons Comprehensive Cancer Center ; UT Southwestern Medical Center ; Dallas ; TX ; USA
3. Department of Family Medicine ; Oregon Health & Science University ; Portland ; OR ; USA
4. Department of Family Medicine ; University of Colorado School of Medicine ; Aurora ; CO ; USA
5. Department of Family Medicine ; Lehigh Valley Health Network ; Allentown ; PA ; USA
6. Department of Family Medicine and Community Health ; Robert Wood Johnson Medical School ; Rutgers University ; New Brunswick ; NJ ; USA
7. Departments of Family Medicine and Community Health ; Epidemiology and Biostatistics ; and Sociology ; Case Western Reserve University ; Cleveland ; OH ; USA

关键词：Quality improvement ; Implementation science ; Evaluation ; Delivery of healthcare

刊名：Implementation Science

出版年：2015

作者：G Diane Shelton (1)
Branden E Rider (2)
Georgina Child (3)
Sophia Tzannes (3)
Ling T Guo (1)
Behzad Moghadaszadeh (2)
Emily C Troiano (2)
Bianca Haase (4)
Claire M Wade (4)
Alan H Beggs (2)

1. Department of Pathology ; School of Medicine ; University of California San Diego ; La Jolla ; CA ; USA
2. Division of Genetics and Program in Genomics ; The Manton Center for Orphan Disease Research ; Boston Children鈥檚 Hospital and Harvard Medical School ; 300 Longwood Ave. ; Boston ; MA ; 02115 ; USA
3. Small Animal Specialist Hospital ; North Ryde ; NSW ; Australia
4. Faculty of Veterinary Science ; The University of Sydney ; Sydney ; NSW ; 2006 ; Australia

关键词：Congenital myopathy ; Myotubularin ; Canine myopathy ; Animal model

刊名：Skeletal Muscle

出版年：2015

作者：Colin B Begg (1)
Venkatraman E Seshan (1)
Emily C Zabor (1)
Helena Furberg (1)
Arshi Arora (1)
Ronglai Shen (1)
Jodi K Maranchie (2)
Matthew E Nielsen (3)
W Kimryn Rathmell (4)
Sabina Signoretti (5)
Pheroze Tamboli (6)
Jose A Karam (7)
Toni K Choueiri (8)
A Ari Hakimi (9)
James J Hsieh (10)

1. Department of Epidemiology and Biostatistics ; Memorial Sloan Kettering Cancer Center ; New York ; NY ; USA
2. Department of Urology ; University of Pittsburgh Medical Center ; Pittsburgh ; PA ; USA
3. Departments of Urology ; Epidemiology and Health Policy and Management and Surgery ; University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; USA
4. Departments of Medicine and Genetics ; Lineberger Comprehensive Cancer Center ; University of North Carolina ; Chapel Hill ; NC ; USA
5. Department of Pathology ; Brigham and Womens鈥?Hospital ; Harvard Medical School ; Boston ; MA ; USA
6. Department of Pathology ; The University of Texas MD Anderson Cancer Center ; Houston ; TX ; USA
7. The University of Texas MD Anderson Cancer Center ; Houston ; TX ; USA
8. Department of Medical Oncology ; Dana-Farber Cancer Institute ; Brigham and Women鈥檚 Hospital ; Harvard Medical School ; Boston ; MA ; USA
9. Department of Surgery ; Urology Service ; Memorial Sloan Kettering Cancer Center ; New York ; NY ; USA
10. Human Oncology and Pathogenesis Program ; Memorial Sloan Kettering Cancer Center ; New York ; NY ; USA

关键词：Etiologic heterogeneity ; Kidney cancer ; Tumor sub ; types

刊名：BMC Medical Research Methodology

出版年：2014

作者：Dan Knights (1) (2) (3) (4)
Mark S Silverberg (5)
Rinse K Weersma (6)
Dirk Gevers (2)
Gerard Dijkstra (6)
Hailiang Huang (7)
Andrea D Tyler (5)
Suzanne van Sommeren (6) (8)
Floris Imhann (6) (8)
Joanne M Stempak (5)
Hu Huang (9)
Pajau Vangay (9)
Gabriel A Al-Ghalith (9)
Caitlin Russell (10) (3)
Jenny Sauk (10)
Jo Knight (11)
Mark J Daly (12) (13) (2)
Curtis Huttenhower (14) (2)
Ramnik J Xavier (10) (2) (3)

1. Department of Computer Science and Engineering ; University of Minnesota ; Minneapolis ; Minnesota ; 55455 ; USA
2. Broad Institute of Harvard and MIT ; Cambridge ; Massachusetts ; 02142 ; USA
3. Center for Computational and Integrative Biology ; Massachusetts General Hospital and Harvard Medical School ; Boston ; Massachusetts ; 02114 ; USA
4. Biotechnology Institute ; University of Minnesota ; St. Paul ; Minnesota ; 55108 ; USA
5. Zane Cohen Centre for Digestive Diseases ; Mount Sinai Hospital IBD Group ; University of Toronto ; Toronto ; Ontario ; M5G 1X5 ; Canada
6. Department of Gastroenterology and Hepatology ; University Medical Center Groningen ; Groningen ; 9700RB ; The Netherlands
7. Analytic and Translational Genetics Unit ; Massachusetts General Hospital ; Boston ; Massachusetts ; 02114 ; USA
8. Department of Genetics ; University Medical Center Groningen ; Groningen ; 9700RB ; The Netherlands
9. Biomedical Informatics and Computational Biology ; University of Minnesota ; Minneapolis ; Minnesota ; 55455 ; USA
10. Division of Gastroenterology ; Massachusetts General Hospital and Harvard Medical School ; Boston ; Massachusetts ; 02114 ; USA
11. Department of Psychiatry ; University of Toronto ; Toronto ; Ontario ; M5T 1R8 ; Canada
12. Department of Medicine ; Analytic and Translational Genetics Unit ; Massachusetts General Hospital and Harvard Medical School ; Boston ; Massachusetts ; 02114 ; USA
13. Program in Medical and Population Genetics ; Broad Institute of Harvard and MIT ; Cambridge ; Massachusetts ; 02142 ; USA
14. Biostatistics Department ; Harvard School of Public Health ; Boston ; Massachusetts ; 02115 ; USA

刊名：Genome Medicine

出版年：2014