부산대학교 도서관

Edelmann L; Hempel M; Podsiadlo N; Schweizer N; Tong C; Galvain T; Taylor H; Schüler M

ClinicoEconomics and Outcomes Research, Vol Volume 14, Pp 105-117 (2022)

Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA. bdwebb@wisc.edu.; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA. bdwebb@wisc.edu.; Lau LY; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Tsevdos D; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Shewcraft RA; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Corrigan D; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Shi L; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Lee S; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Tyler J; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Li S; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Wang Z; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Stolovitzky G; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Edelmann L; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Chen R; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA.; Schadt EE; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Li L; GeneDx Holdings Corp, (formerly known as Sema4 Holdings Corp.), Stamford, Connecticut, CT, USA. dlleely@gmail.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; 23andMe, Inc., Sunnyvale, CA.; Marathe PN; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.; Kelly NR; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.; Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.; Sebastin M; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.; Odgis JA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.; Abhyankar A; Molecular Diagnostics, New York Genome Center, New York, NY.; Brown K; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Illumina Incorporated, San Diego, CA.; Di Biase M; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.; Gallagher KM; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Invitae Corporation, San Francisco, CA.; Guha S; Molecular Diagnostics, New York Genome Center, New York, NY.; Ioele N; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Memorial Sloan Kettering Cancer Center, New York, NY.; Okur V; Molecular Diagnostics, New York Genome Center, New York, NY.; Ramos MA; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY.; Rodriguez JE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.; Rehman AU; Molecular Diagnostics, New York Genome Center, New York, NY.; Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY.; Edelmann L; Sema4, Stamford, CT.; Zinberg RE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; iECURE Incorporated, Philadelphia, PA.; Greally JM; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.; Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.; Suckiel SA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.; Horowitz CR; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY.; Wasserstein MP; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.; Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: eimear.kenny@mssm.edu.; Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: bruce.gelb@mssm.edu.

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

Rigobello R; GeneDx, Gaithersburg, Maryland, USA.; Shaw J; GeneDx, Gaithersburg, Maryland, USA.; Ilg D; GeneDx, Gaithersburg, Maryland, USA.; Zimmerman R; GeneDx, Gaithersburg, Maryland, USA.; Edelmann L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Kornreich R; GeneDx, Gaithersburg, Maryland, USA.; Scott SA; Department of Pathology, Stanford University, Stanford, California, USA.; Clinical Genomics Laboratory, Stanford Medicine, Palo Alta, California, USA.; Cody N; GeneDx, Gaithersburg, Maryland, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 0372741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-6535 (Electronic) Linking ISSN: 00099236 NLM ISO Abbreviation: Clin Pharmacol Ther Subsets: MEDLINE

Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Marathe PN; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sebastin M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Odgis JA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Di Biase M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Kelly NR; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Ramos MA; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Insel BJ; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Scarimbolo L; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Rehman AU; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Guha S; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Okur V; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Abhyankar A; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Phadke S; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Nava C; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Gallagher KM; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Elkhoury L; Sema4, Stamford, Connecticut, USA.; Edelmann L; Sema4, Stamford, Connecticut, USA.; Zinberg RE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Obstetrics, Gynecology and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Greally JM; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Suckiel SA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Horowitz CR; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Wasserstein M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, USA.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Odgis JA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Gallagher KM; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Rehman AU; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Marathe PN; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Bonini KE; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sebastin M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Di Biase M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Brown K; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Kelly NR; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Ramos MA; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Guha S; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Okur V; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Ganapathi M; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, USA.; Elkhoury L; Sema4, Stamford, Connecticut, USA.; Edelmann L; Sema4, Stamford, Connecticut, USA.; Zinberg RE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Obstetrics, Gynecology and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Abul-Husn NS; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Greally JM; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Suckiel SA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, USA.; Horowitz CR; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Kenny EE; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Wasserstein MP; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.; Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, 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

Scott ER; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Yang Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Botton MR; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sema4, Stamford, Connecticut, USA.; Seki Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Hoshitsuki K; School of Pharmacy, University of Pittsburgh, Pennsylvania, Pittsburgh, USA.; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Harting J; Pacific Biosciences, Menlo Park, California, USA.; Baybayan P; Pacific Biosciences, Menlo Park, California, USA.; Cody N; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sema4, Stamford, Connecticut, USA.; Nicoletti P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sema4, Stamford, Connecticut, USA.; Moriyama T; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Chakraborty S; Pacific Biosciences, Menlo Park, California, USA.; Yang JJ; Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Edelmann L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sema4, Stamford, Connecticut, USA.; Schadt EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sema4, Stamford, Connecticut, USA.; Korlach J; Pacific Biosciences, Menlo Park, California, USA.; Scott SA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sema4, Stamford, Connecticut, USA.

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

Pratt VM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Wang WY; Division of Clinical Pharmacology, Toxicology, and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri.; Boone EC; Division of Clinical Pharmacology, Toxicology, and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri.; Broeckel U; RPRD Diagnostics, Milwaukee, Wisconsin; Department of Pediatrics, Section on Genomic Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.; Cody N; Sema4, Stamford, Connecticut; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.; Edelmann L; Sema4, Stamford, Connecticut; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.; Gaedigk A; Division of Clinical Pharmacology, Toxicology, and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.; Lynnes TC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Medeiros EB; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Moyer AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Mitchell MW; Coriell Institute for Medical Research, Camden, New Jersey.; Scott SA; Department of Pathology, Stanford University, Stanford, California; Clinical Genomics Laboratory, Stanford Healthcare, Palo Alto, California.; Starostik P; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida.; Turner A; RPRD Diagnostics, Milwaukee, Wisconsin; Department of Pediatrics, Section on Genomic Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.; Kalman LV; Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia. Electronic address: ljk0@cdc.gov.

Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Singh R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Sema4, Stamford, Connecticut 06902, USA.; Cohen ASA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Sema4, Stamford, Connecticut 06902, USA.; Poulton C; Genetic Service of Western Australia, King Edward Memorial Hospital, Perth, Western Australia 6008, Australia.; Hjortshøj TD; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.; Akahira-Azuma M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Mendiratta G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Sema4, Stamford, Connecticut 06902, USA.; Khan WA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Sema4, Stamford, Connecticut 06902, USA.; Azmanov DN; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.; Pathology and Laboratory Medicine, Medical School, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Western Australia 6009, Australia.; Woodward KJ; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.; Pathology and Laboratory Medicine, Medical School, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Western Australia 6009, Australia.; Kirchhoff M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.; Shi L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Sema4, Stamford, Connecticut 06902, USA.; Edelmann L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Sema4, Stamford, Connecticut 06902, USA.; Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia 6008, Australia.; Faculty of Health and Medical Sciences, Division of Paediatrics and Telethon Kids Institute, University of Western Australia, Perth, Western Australia 6008, Australia.; Faculty of Medicine, University of Notre Dame, Australia, Perth, Western Australia 6160, Australia.; Scott SA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.; Sema4, Stamford, Connecticut 06902, USA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Scott SA; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Scott ER; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Seki Y; Sema4, Stamford, Connecticut, USA.; Chen AJ; Sema4, Stamford, Connecticut, USA.; Wallsten R; Sema4, Stamford, Connecticut, USA.; Owusu Obeng A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Botton MR; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Cody N; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Shi H; Sema4, Stamford, Connecticut, USA.; Zhao G; Sema4, Stamford, Connecticut, USA.; Brake P; Sema4, Stamford, Connecticut, USA.; Nicoletti P; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Yang Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Delio M; Sema4, Stamford, Connecticut, USA.; Shi L; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Kornreich R; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Schadt EE; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Edelmann L; Sema4, Stamford, Connecticut, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE