부산대학교 도서관

Kelleher, Erin F; Giampietro, Philip F; Moreno, Megan A

JMIR Pediatrics and Parenting, Vol 3, Iss 2, p e16367 (2020)

Arterbery AS; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.; Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.; Bagley A; Shriners Children's Northern California, Sacramento, California 95817, USA.; Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.; Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.; Ordaz-Robles T; Shriners Children's, Mexico City, Mexico.; Danis D; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.; Graefe AS; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.; Arenas-Díaz AL; Shriners Children's, Mexico City, Mexico.; Bauer JP; Shriners Children's, Portland, Oregon 97239, USA.; Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.; Carmody L; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.; Carroll KL; Shriners Children's Salt Lake City, Salt Lake City, Utah 84103, USA.; Davis J; Shriners Children's Salt Lake City, Salt Lake City, Utah 84103, USA.; Giampietro PF; University of Illinois-Chicago, 840 S Wood Street, Room 1224, Chicago, Illinois 60612.; Gustafson AG; Shriners Children's Genomics Institute, Tampa, Florida 33612, USA.; Hernandez M; Shriners Children's Northern California, Sacramento, California 95817, USA.; Jacobsen JO; William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Lemhouse P; Shriners Children's, Portland, Oregon 97239, USA.; Millet D; Shriners Children's Salt Lake City, Salt Lake City, Utah 84103, USA.; Mukherjee S; Shriners Children's Chicago, 2211 N Oak Park Ave, Chicago IL 60707.; Nairne P; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.; Nice E; Shriners Children's Philadelphia, Philadelphia, PA 19140, USA.; Plotkin T; Shriners Children's Chicago, 2211 N Oak Park Ave, Chicago IL 60707.; Powell K; Shriners Children's Shreveport; 3100 Samford Ave., Shreveport, LA 71103.; Raney EM; Shriners Children's, Portland, Oregon 97239, USA.; Shingle M; Shriners Children's Northern California, Sacramento, California 95817, USA.; Smedley D; William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Smith PA; Shriners Children's Chicago, 2211 N Oak Park Ave, Chicago IL 60707.; Soliman DA; Shriners Children's Shreveport; 3100 Samford Ave., Shreveport, LA 71103.; Westberry DE; Shriners Children's Greenville, 950 West Faris Rd | Greenville, SC.; Davids JR; Shriners Children's Northern California, Sacramento, California 95817, USA.; Department of Orthopaedic Surgery, University of California Davis Health, Sacramento, California 95817, USA.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Rebello, Denise; Wohler, Elizabeth; Erfani, Vida; Li, Guozhuang; Aguilera, Alexya N; Santiago-Cornier, Alberto; Zhao, Sen; Hwang, Steven W; Steiner, Robert D; Zhang, Terry Jianguo; Gurnett, Christina A; Raggio, Cathleen; Wu, Nan; Sobreira, Nara; Giampietro, Philip F; Ciruna, Brian

Human Molecular Genetics; 10/1/2023, Vol. 32 Issue 19, p2913-2928, 16p

Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Québec, Canada. shahrzad.nematollahi@mail.mcgill.ca.; Department of Clinical research, Shriners Children's-Canada, Montreal, Québec, Canada. shahrzad.nematollahi@mail.mcgill.ca.; Rampakakis E; Faculty of Medicine and Health Sciences, McGill University, Montreal, Québec, Canada.; Amara M; School of Physical and Occupational Therapy, McGill University, Montreal, Québec, Canada.; Hamdy RC; Department of Clinical research, Shriners Children's-Canada, Montreal, Québec, Canada.; Faculty of Medicine and Health Sciences, McGill University, Montreal, Québec, Canada.; Rauch F; Department of Clinical research, Shriners Children's-Canada, Montreal, Québec, Canada.; Faculty of Medicine and Health Sciences, McGill University, Montreal, Québec, Canada.; Hyer LC; Orthopaedic Surgery, Shriners Children's Greenville, Greenville, SC, USA.; James MA; Orthopaedic Surgery, Shriners Children's Northern California, Sacramento, CA, USA.; Altiok H; Orthopaedic Surgery Shriners Children's Chicago, Illinois, IL, USA.; Raney E; Orthopaedic Surgery, Shriners Children's Portland, Portland, OR, USA.; Pellett J; Orthopaedic Surgery, Shriners Children's Honolulu, Honolulu, HI, USA.; Mielke C; Orthopedic Surgery, Shriners Children's Shreveport, Louisiana, LA, USA.; Nossov SB; Orthopedic Surgery, Shriners Children's Philadelphia, Philadelphia, PA, USA.; Tavukcu S; Department of Clinical research, Shriners Children's-Canada, Montreal, Québec, Canada.; Giampietro PF; Department of Pediatrics, Division of Medical Genetics, University of Illinois, Chicago, IL, USA.; Medical Genetics, Shriners Children's Chicago, Chicago, IL, USA.; Dahan-Oliel N; School of Physical and Occupational Therapy, McGill University, Montreal, Québec, Canada.; Department of Clinical research, Shriners Children's-Canada, Montreal, Québec, Canada.

Publisher: Springer Netherlands Country of Publication: Netherlands NLM ID: 9210257 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2649 (Electronic) Linking ISSN: 09629343 NLM ISO Abbreviation: Qual Life Res Subsets: MEDLINE

Zidan A; School of Physical and Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; Department of clinical research, Shriners Hospitals for Children, Montreal, Quebec, Canada. Electronic address: ahlam.zidan@mail.mcgill.ca.; Snider L; School of Physical and Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.; Rampakakis E; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; JSS Medical Research, Montreal, Quebec, Canada.; Hamdy R; Department of clinical research, Shriners Hospitals for Children, Montreal, Quebec, Canada; Department of Pediatric Surgery, McGill University, Montreal, Quebec, Canada.; Rauch F; Department of clinical research, Shriners Hospitals for Children, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.; Hyer LC; Department of Orthopedic Surgery, Shriners Hospitals for Children, Greenville, SC.; Manske MCB; Department of Orthopedic Surgery, Shriners Hospitals for Children, Northern California, Sacramento, CA.; Altiok H; Department of Orthopedic Surgery, Shriners Hospitals for Children, Chicago, IL.; Freese K; Department of Orthopedic Surgery, Shriners Hospitals for Children, Portland, OR.; Mielke C; Department of Orthopedic Surgery, Shriners Hospitals for Children, Shreveport, LA.; Nossov SB; Department of Orthopedic Surgery, Shriners Hospitals for Children, Philadelphia, PA.; Tavukcu S; Department of clinical research, Shriners Hospitals for Children, Montreal, Quebec, Canada.; Giampietro PF; Department of Orthopedic Surgery, Shriners Hospitals for Children, Chicago, IL; Department of Pediatrics, Division of Medical Genetics, University of Illinois, Chicago, IL.; Dahan-Oliel N; School of Physical and Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; Department of clinical research, Shriners Hospitals for Children, Montreal, Quebec, Canada.

Publisher: W.B. Saunders Country of Publication: United States NLM ID: 2985158R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-821X (Electronic) Linking ISSN: 00039993 NLM ISO Abbreviation: Arch Phys Med Rehabil Subsets: MEDLINE

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata JM; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A

American Journal of Human Genetics, vol 108, iss 1

Das, Bibhuti B; Rajegowda, Benamanahalli K; Bainbridge, Ronald; Giampietro, Philip F

Journal of Perinatology. Mar2002, Vol. 22 Issue 2, p168. 3p.

Li G; Department of Orthopedic Surgery, 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, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wang H; Department of Urology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China.; Kim JS; Department of Pediatrics, Rutgers Robert Wood Johnson Medical Center, New Brunswick, New Jersey, USA.; Watson D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Zhao S; Department of Orthopedic Surgery, 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, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Vaccaro C; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hartung E; Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Zhang TJ; Department of Orthopedic Surgery, 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, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Giampietro PF; Department of Pediatrics, Rutgers Robert Wood Johnson Medical Center, New Brunswick, New Jersey, USA.; Department of Pediatrics, University of Illinois-Chicago, Chicago, Illinois, USA.; Wu N; Department of Orthopedic Surgery, 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, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.

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

Giampietro PF; Department of Pediatrics, University of Illinois-Chicago, Chicago, IL 60612, USA.; Hadley-Miller N; Musculoskeletal Research Center, Children's Hospital Colorado, Aurora, CO 80045, USA.; Raggio CL; Hospital for Special Surgery, New York, NY 10021, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Dahan-Oliel N; Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.; Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.; Dieterich K; Inserm, U1216, Grenoble Institut Neurosciences, Génétique médicale, Université Grenoble Alpes, CHU Grenoble Alpes, 38000 Grenoble, France.; Rauch F; Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.; Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.; Bardai G; Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.; Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.; Blondell TN; Shriners Hospitals for Children, Philadelphia, PA 19140, USA.; Gustafson AG; Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.; Hamdy R; Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.; Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.; Latypova X; Inserm, U1216, Grenoble Institut Neurosciences, Génétique médicale, Université Grenoble Alpes, CHU Grenoble Alpes, 38000 Grenoble, France.; Shazand K; Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.; Giampietro PF; Pediatric Genetics, University of Illinois, Chicago, IL 60612, USA.; van Bosse H; Shriners Hospitals for Children, Philadelphia, PA 19140, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Latypova X; Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, 38000 Grenoble, France.; Creadore SG; Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.; Dahan-Oliel N; Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.; School of Physical & Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.; Gustafson AG; Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.; Wei-Hung Hwang S; Shriners Hospitals for Children, Philadelphia, PA 19140, USA.; Bedard T; Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Edmonton, AB T5J 3E4, Canada.; Shazand K; Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.; van Bosse HJP; Shriners Hospitals for Children, Philadelphia, PA 19140, USA.; Giampietro PF; Department of Pediatrics, University of Illinois-Chicago, Chicago, IL 60607, USA.; Dieterich K; Institut of Advanced Biosciences, Université Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, 38000 Grenoble, France.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Giampietro, Philip F; Raggio, Cathy L; Blank, Robert D

Journal of Medical Genetics. May 01, 2014 51(5):354-354

Petit F; Clinique de Génétique, CHU de Lille, Lille, France; EA7364 RADEME, Université de Lille, Lille, France.; Longoni M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.; Wells J; The Jackson Laboratory, Bar Harbor, ME, USA.; Maser RS; The Jackson Laboratory, Bar Harbor, ME, USA.; Bogenschutz EL; The Jackson Laboratory, Bar Harbor, ME, USA.; Dysart MJ; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.; Contreras HTM; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.; Frénois F; EA7364 RADEME, Université de Lille, Lille, France.; Pober BR; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Giampietro PF; University of Illinois-Chicago, Chicago, IL, USA.; Ropers HH; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Hu H; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Loscertales M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.; Wagner R; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany.; Ai X; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Brand H; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Jourdain AS; EA7364 RADEME, Université de Lille, Lille, France.; Delrue MA; Service de Génétique, CHU de Bordeaux, Bordeaux, France.; Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Université de Poitiers, EA3808, Poitiers, France.; Devisme L; Institut de Pathologie, CHU de Lille, Lille, France.; Keren B; Département de Génétique, Hôpital Pitié Salpétrière, CHU de Paris, Paris, France.; McCulley DJ; Department of Pediatrics, University of California, San Diego, San Diego, CA, USA.; Qiao L; Department of Pediatrics, Columbia University, New York, NY, USA.; Hernan R; Department of Pediatrics, Columbia University, New York, NY, USA.; Wynn J; Department of Pediatrics, Columbia University, New York, NY, USA.; Scott TM; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, the University of Texas Health Science Center at Houston, Houston, TX, USA.; Hernandez P; IDDRC/TCC, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Yonath H; Internal Medicine A and Genetics Institute, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Shen Y; Department of Systems Biology, Columbia University, New York, NY, USA.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.; Bult CJ; The Jackson Laboratory, Bar Harbor, ME, USA.; Donahoe PK; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.; High FA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Boston Children's Hospital, Boston, MA, USA. Electronic address: fhigh@mgb.org.

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

Chen, Yixin; Liu, Zhenlei; Chen, Jia; Zuo, Yuzhi; Liu, Sen; Chen, Weisheng; Liu, Gang; Qiu, Guixing; Giampietro, Philip F; Wu, Nan; Wu, Zhihong

J Med Genet

Martin EMMA; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Enriquez A; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Sparrow DB; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Science, UNSW, Sydney 2052, Australia.; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK.; Humphreys DT; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Molecular, Structural and Computational Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; McInerney-Leo AM; Dermatology Research Centre, The University of Queensland Diamantina Institute, Translational Research Institute, Brisbane 4072, Australia.; Leo PJ; Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba 4102, Australia.; Duncan EL; Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba 4102, Australia.; Department of Twin Research & Genetic Epidemiology, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London SE1 7EH, UK.; Faculty of Medicine, University of Queensland, Herston 4006, Australia.; Iyer KR; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Greasby JA; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Ip E; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Computational Genomics Laboratory, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Giannoulatou E; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Computational Genomics Laboratory, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Sheng D; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore 21287, USA.; Dimartino C; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.; Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris 75015, France.; Capri Y; Département de Génétique, Hôpital Robert Debré, Assistance Publique Hôpitaux de Paris, Paris 75019, France.; Lehalle D; Centre Hospitalier Intercommunal Créteil, Créteil 94000, France.; Mory A; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Wilnai Y; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Lebenthal Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.; Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Pediatric Endocrinology and Diabetes Unit, Tel Aviv 6423906, Israel.; Gharavi AG; Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA.; Krzemień GG; Department of Pediatrics and Nephrology, Warsaw Medical University, Warsaw 02-091, Poland.; Miklaszewska M; Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Kraków 30-663, Poland.; Steiner RD; Marshfield Clinic Health System, Marshfield, WI 54449, USA.; University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.; Raggio C; Hospital for Special Surgery, Pediatrics Orthopedic Surgery, New York, NY 10021, USA.; Blank R; Department of Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Baris Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.; Milo Rasouly H; Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA.; Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore 21287, USA.; Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G1X3, Canada.; Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.; Giampietro PF; Department of Pediatrics, University of Illinois-Chicago, Chicago, IL 60607, USA.; Dunwoodie SL; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Faculty of Science, UNSW, Sydney 2052, Australia.; Chapman G; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Medicine, UNSW, Sydney 2052, Australia.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Al Dhaheri N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al-Ain, UAE.; Wu N; Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Zhao S; Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Wu Z; Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Blank RD; Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Zhang J; Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Raggio C; Hospital for Special Surgery, New York, New York, USA.; Halanski M; University of Nebraska Medical Center, Omaha, Nebraska, USA.; Shen J; Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Noonan K; University of Wisconsin-Madison, Madison, Wisconsin, USA.; Qiu G; Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Nemeth B; University of Wisconsin-Madison, Madison, Wisconsin, USA.; Sund S; University of Wisconsin-Madison, Madison, Wisconsin, USA.; Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; University of New South Wales, Sydney, New South Wales, Australia.; Chapman G; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; University of New South Wales, Sydney, New South Wales, Australia.; Glurich I; Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.; Steiner RD; University of Wisconsin-Madison, Madison, Wisconsin, USA.; Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.; Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Martin R; 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.; Giampietro PF; Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, 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

Ghebranious, Nader; Blank, Robert D; Raggio, Cathleen L; Staubli, Justin; McPherson, Elizabeth; Ivacic, Lynn; Rasmussen, Kristen; Jacobsen, F Stig; Faciszewski, Thomas; Burmester, James K; Pauli, Richard M; Boachie-Adjei, Oheneba; Glurich, Ingrid; Giampietro, Philip F

Journal of Bone & Mineral Research; Oct2008, Vol. 23 Issue 10, p1576-1583, 8p

Giampietro, Philip F; Raggio, Cathleen; Davis, Jessica G

Current Opinion in Pediatrics; Feb2002, Vol. 14 Issue 1, p35-41, 7p

McCarty, Catherine A; Wilke, Russell A; Giampietro, Philip F; Wesbrook, Steve D; Caldwell, Michael D

Personalized Medicine. Feb 01, 2005 2(1):49-79

Alankarage D; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Enriquez A; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia.; Steiner RD; Marshfield Clinic Health System, Marshfield, WI, 54449, USA; University of Wisconsin School of Medicine and Public Health, Madison, WI, 53792, USA.; Raggio C; Hospital for Special Surgery, Pediatrics Orthopedic Surgery, New York, NY, 10021, USA.; Higgins M; Royal Brisbane and Women's Hospital, Butterfield St, Brisbane, QLD, 4072, Australia; University of Queensland, Brisbane, QLD, 4072, Australia.; Milnes D; Royal Brisbane and Women's Hospital, Butterfield St, Brisbane, QLD, 4072, Australia.; Humphreys DT; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia.; Duncan EL; Department of Twin Research & Genetic Epidemiology, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London, SE1 7EH, UK; Australian Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, 4102, Australia; Faculty of Medicine, University of Queensland, Herston, 4006, Australia.; Sparrow DB; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3PT, UK.; Giampietro PF; Department of Pediatrics, University of Illinois-Chicago, Chicago, IL, 60612, USA.; Chapman G; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia.; Dunwoodie SL; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia; Faculty of Science, University of New South Wales, Sydney, NSW, 2052, Australia. Electronic address: S.Dunwoodie@victorchang.edu.au.

Publisher: Elsevier Country of Publication: England NLM ID: 0401650 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0436 (Electronic) Linking ISSN: 03014681 NLM ISO Abbreviation: Differentiation Subsets: MEDLINE