부산대학교 도서관

Motta FL; Department of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo, Brazil.; Filippelli-Silva R; Department of Biophysics, Universidade Federal de São Paulo, Sao Paulo, Brazil.; Kitajima JP; Mendelics Análise Genômica S.A., Sao Paulo, Brazil.; Batista DA; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Wohler ES; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, Maryland, USA.; Sobreira NL; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, Maryland, USA.; Martin RP; Department of Biophysics, Universidade Federal de São Paulo, Sao Paulo, Brazil.; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, Maryland, USA.; Ferraz Sallum JM; Department of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo, Brazil.; Instituto de Genética Ocular, Sao Paulo, Brazil.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

Te Riele, Anneline S J M; Agullo-Pascual, Esperanza; James, Cynthia A.; Leo-Macias, Alejandra; Cerrone, Marina; Zhang, Mingliang; Lin, Xianming; Lin, Bin; Rothenberg, Eli; Sobreira, Nara L.; Amat-Alarcon, Nuria; Marsman, Roos F.; Murray, Brittney; Tichnell, Crystal; Van Der Heijden, Jeroen F.; Dooijes, Dennis; Van Veen, Toon A B; Tandri, Harikrishna; Fowler, Steven J.; Hauer, Richard N W; Tomaselli, Gordon; Van Den Berg, Maarten P.; Taylor, Matthew R G; Brun, Francesca; Sinagra, Gianfranco; Wilde, Arthur A M; Mestroni, Luisa; Bezzina, Connie R.; Calkins, Hugh; Van Tintelen, J. Peter; Bu, Lei; Delmar, Mario; Judge, Daniel P.

Cardiovascular Research. 113:102-111

Meyer AN; Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, USA.; Modaff P; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin, USA.; Wang CG; Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, USA.; Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Sobreira NL; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Donoghue DJ; Department of Chemistry and Biochemistry, University of California San Diego, La Jolla, California, USA.; UCSD Moores Cancer Center, La Jolla, California, USA.; Pauli RM; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Gripp, Karen W; Robbins, Katherine M; Sobreira, Nara L; Witmer, P Dane; Bird, Lynne M; Avela, Kristiina; Makitie, Outi; Alves, Daniela; Hogue, Jacob S; Zackai, Elaine H; Doheny, Kimberly F; Stabley, Deborah L; Sol‐Church, Katia

American Journal of Medical Genetics Part A, vol 167, iss 2

Mealy, Maureen A; Nam, Tai-Seung; Pardo, Santiago J; Pardo, Carlos A; Sobreira, Nara L; Avramopoulos, Dimitrios; Valle, David; Burns, Kathleen H; Levy, Michael

Neurol Genet
Neurology Genetics, vol 4, iss 1

Alhariri A; Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California.; Department of Pediatrics, Division of Medical Genetics, Children Hospital of Pittsburgh, Pittsburgh, Pennsylvania.; Hamilton K; Department of Neurology, UCSF, San Francisco, California.; Oza V; The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York City, New York.; Cordoro K; Department of Dermatology, UCSF, San Francisco, California.; Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Malloy M; Departments of Medicine and Pediatrics, UCSF, San Francisco, California.; Slavotinek A; Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address: ahamosh@jhmi.edu.; Amberger JS; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Bocchini CA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Bodurtha J; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Bult CJ; The Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.; Chute CG; Johns Hopkins University Schools of Medicine, Public Health, and Nursing, Baltimore, MD 21287, USA.; Cutting GR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Dietz HC; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Firth HV; Dept of Clinical Genetics, Box 134, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA.; Grody WW; Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095, USA.; Haendel MA; Center for Health Artificial Intelligence, University of Colorado Anschutz Medical School, Aurora, CO 80045, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA; Texas Children's Hospital, Houston, TX 77030, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.; Schriml LM; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA.; Scott AF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Sobreira NL; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Valle D; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Wu N; Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Rasmussen SA; Departments of Pediatrics, Obstetrics and Gynecology, and Epidemiology, University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL 32610, USA.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Philippakis AA; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.; Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Azzariti DR; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.; Beltran S; Centro Nacional de Análisis Genómico, Barcelona, Spain.; Brookes AJ; Department of Genetics, University of Leicester, Leicester, UK.; Brownstein CA; Harvard Medical School, Boston, Massachusetts.; Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Brudno M; Department of Computer Science, University of Toronto, Toronto, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Brunner HG; Radboud University Medical Center, Department of Human Genetics, Nijmegen 6500 HB, The Netherlands.; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht 6202AZ, The Netherlands.; Buske OJ; Department of Computer Science, University of Toronto, Toronto, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Carey K; Gene Cloud, California.; Doll C; Google Inc, Mountain View, California.; Dumitriu S; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Dyke SO; Centre of Genomics and Policy, Faculty of Medicine, McGill University, Quebec, Canada.; den Dunnen JT; Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Firth HV; East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030.; Girdea M; Department of Computer Science, University of Toronto, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Gonzalez M; The Genesis Project Inc, Miami, Florida.; Haendel MA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.; Holm IA; Harvard Medical School, Boston, Massachusetts.; Division of Genetics and Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Huang L; The Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.; Hutton B; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.; Krier JB; Harvard Medical School, Boston, Massachusetts.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, 02115.; Misyura A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mungall CJ; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California.; Paschall J; European Molecular Biology Laboratory European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.; Paten B; UC Santa Cruz Genomics Institute, Santa Cruz, California.; Robinson PN; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin 14195, Germany.; Berlin Brandenburg Center for Regenerative Therapies, Berlin 13353, Germany.; Schiettecatte F; FS Consulting LLC, Salem, Massachusetts, 01970.; Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.; Swaminathan GJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.; Taschner PE; Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Generade Center of Expertise Genomics, University of Applied Sciences Leiden, Leiden, The Netherlands.; Terry SF; Genetic Alliance, Washington, District of Columbia.; Washington NL; Department of Cardiology, Brigham & Women's Hospital, Boston, Massachusetts.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.; Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Rehm HL; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Chen S; Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Mattei P; Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; You J; Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Sobreira NL; Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Hinds GA; Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589530 Publication Model: Print Cited Medium: Internet ISSN: 2168-6084 (Electronic) Linking ISSN: 21686068 NLM ISO Abbreviation: JAMA Dermatol Subsets: MEDLINE

Liu J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Breast Surgical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.; Wu N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China. dr.wunan@pumch.cn.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. dr.wunan@pumch.cn.; Yang N; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.; Takeda K; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.; Chen W; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Graduate School of Peking Union Medical College, Beijing, China.; Li W; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.; Du R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liu S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Zhou Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Zhang L; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.; Liu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China.; Zuo Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Zhao S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Blank R; Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Dong S; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.; Zhang J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Shen J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Si N; The McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Wang Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Liu G; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Li S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Zhao Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Zhao H; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Chen Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Zhao Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Hu J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Lin M; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Graduate School of Peking Union Medical College, Beijing, China.; Tian Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Yu K; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Niu Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Yu B; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Li X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Chen J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Yan Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Graduate School of Peking Union Medical College, Beijing, China.; Zhu Q; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Meng X; The McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Chen X; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.; Su J; College of Biomedical Engineering, The Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.; Zhao X; The McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Wang X; The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Ming Y; PET-CT Center, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.; Li X; Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Raggio CL; Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA.; Zhang B; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Weng X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Zhang S; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Zhang X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; The McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Watanabe K; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.; Matsumoto M; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.; Jin L; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.; Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Giampietro PF; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA, USA.; Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.; Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Ikegawa S; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Departments of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Zhang F; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.; Qiu G; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. qiuguixingpumch@126.com.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China. qiuguixingpumch@126.com.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China. qiuguixingpumch@126.com.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Sobreira NL; McKusick-Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreMaryland 21205; Department of PediatricsJohns Hopkins University School of MedicineBaltimoreMaryland 21205.; Valle D; McKusick-Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreMaryland 21205; Department of PediatricsJohns Hopkins University School of MedicineBaltimoreMaryland 21205.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: eCollection Cited Medium: Print ISSN: 2324-9269 (Print) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: PubMed not MEDLINE

You J; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Gable DL; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Jurgens J; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Belnap N; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.; Siniard A; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.; Szelinger S; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.; Schrauwen I; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.; Richholt RF; Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.; Vallee SE; Dartmouth-Hitchcock Medical Center, 1 Medical Center Dr., Lebanon, NH 03756, USA.; Dinulos MBP; Dartmouth-Hitchcock Medical Center, 1 Medical Center Dr., Lebanon, NH 03756, USA; Pediatrics and Pathology Department, Geisel School of Medicine at Dartmouth, 1 Medical Center Dr., Lebanon, NH 03756, USA.; Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: dvalle@jhmi.edu.; Armanios M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Hoover-Fong J; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Mulle JG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. jmulle@emory.edu; Dodd AF; McGrath JA; Wolyniec PS; Mitchell AA; Shetty AC; Sobreira NL; Valle D; Rudd MK; Satten G; Cutler DJ; Pulver AE; Warren ST

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE