Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Hemphill SE"'
Autor:
Patel MJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiStefano MT; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Precision Health Program, Geisinger, Danville, PA, USA., Oza AM; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA., Hughes MY; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilcox EH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hemphill SE; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA., Cushman BJ; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA., Grant AR; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Siegert RK; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Shen J; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Chapin A; ARUP Laboratories, Salt Lake City, UT, USA., Boczek NJ; Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Nara K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan., Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Avraham KB; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Griffith AJ; Department of Otolaryngology Head-Neck Surgery, College of Medicine, The University of Tennessee Health Science Center, Memphis, TN, USA., Rehm HL; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA., Amr SS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Tayoun ANA; Al Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2208-2212. Date of Electronic Publication: 2021 Jul 06.
Autor:
Shen J; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. jshen5@bwh.harvard.edu.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA. jshen5@bwh.harvard.edu.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA. jshen5@bwh.harvard.edu., Oza AM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Del Castillo I; Servicio de Genetica, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Duzkale H; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Matsunaga T; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan., Pandya A; University of North Carolina, Chapel Hill, NC, USA., Kang HP; Counsyl, South San Francisco, CA, USA., Mar-Heyming R; Counsyl, South San Francisco, CA, USA., Guha S; Counsyl, South San Francisco, CA, USA.; New York Genome Center, New York, NY, 10013, USA., Moyer K; Counsyl, South San Francisco, CA, USA., Lo C; Counsyl, South San Francisco, CA, USA., Kenna M; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Alexander JJ; EGL Genetics/Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; ConsulGene, LLC, Jacksonville, FL, USA., Zhang Y; Certer for Medical Genetics, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China., Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, USA., Luo M; The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Cao Y; Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong, China., Wai Choy K; Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong, China., Cheng YF; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Otolaryngology-Head and Neck Surgery, Taipei Veterinary Hospital, Taipei, Taiwan.; School of Medicine, National Yang-Ming University, Taipei, Taiwan., Avraham KB; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Hu X; Department of Biostatistics, Fairbanks School of Public Health and School of Medicine, Indiana University, Indianapolis, IN, USA., Garrido G; Servicio de Genetica, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Moreno-Pelayo MA; Servicio de Genetica, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Greinwald J; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Zhang K; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Zeng Y; Certer for Medical Genetics, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China., Brownstein Z; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Davidov B; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Frydman M; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel., Weiden T; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel., Nagan N; Integrated Genetics, Laboratory Corporation of America® Holdings, Westborough, MA, USA., Willis A; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC, USA., Hemphill SE; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA., Grant AR; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Siegert RK; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiStefano MT; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA., Amr SS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA., Rehm HL; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Abou Tayoun AN; Al Jalila Children's Specialty Hospital, Dubai, UAE. Ahmad.Tayoun@ajch.ae.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2442-2452. Date of Electronic Publication: 2019 Jun 04.
Autor:
DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA., Oza AM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; Dept. of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA., Siegert RK; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Grant AR; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hughes MY; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cushman BJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Chapin A; ARUP Laboratories, Salt Lake City, UT, USA., Duzkale H; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Matsunaga T; Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Medical Genetics Center, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan., Shen J; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Zhang W; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kenna M; Dept. of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Schimmenti LA; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Tekin M; John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA., Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tayoun ANA; Al Jalila Children's Specialty Hospital, Al Jaddaf, Dubai, United Arab Emirates., Amr SS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA. samr@partners.org.; Harvard Medical School, Boston, MA, USA. samr@partners.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Oct; Vol. 21 (10), pp. 2409.
Autor:
DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA., Oza AM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; Dept. of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA., Siegert RK; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Grant AR; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hughes MY; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cushman BJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Chapin A; ARUP Laboratories, Salt Lake City, UT, USA., Duzkale H; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Matsunaga T; Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Medical Genetics Center, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan., Shen J; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Zhang W; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kenna M; Dept. of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Schimmenti LA; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Tekin M; John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA., Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tayoun ANA; Al Jalila Children's Specialty Hospital, Al Jaddaf, Dubai, United Arab Emirates., Amr SS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA. samr@partners.org.; Harvard Medical School, Boston, MA, USA. samr@partners.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Oct; Vol. 21 (10), pp. 2239-2247. Date of Electronic Publication: 2019 Mar 21.
Autor:
Niehaus A; College of Medicine, Medical University of South Carolina, Charleston, SC, USA.; Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA., Azzariti DR; Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Harrison SM; Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA., Senol-Cosar O; Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA., Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA. hrehm@broadinstitute.org.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. hrehm@broadinstitute.org.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. hrehm@broadinstitute.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Aug; Vol. 21 (8), pp. 1699-1701. Date of Electronic Publication: 2019 Jan 23.
Autor:
Oza AM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts., DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Cushman BJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Grant AR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Siegert RK; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Shen J; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts., Chapin A; ARUP Laboratories, Salt Lake City, Utah., Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Schimmenti LA; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota., Murry JB; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Nara K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan., Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts., Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, Iowa.; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, Iowa., Griffith A; Audiology Unit, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, Bethesda, Maryland., Avraham KB; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Kremer H; Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Amr SS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts., Abou Tayoun AN; The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Publikováno v:
Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1593-1613.
Autor:
McGlaughon JL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Goldstein JL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Thaxton C; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Publikováno v:
Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1494-1504.
Autor:
DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Cushman BJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Bowser MJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Hynes E; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Grant AR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Siegert RK; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Oza AM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Gonzalez MA; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Amr SS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Medical and Population Genetics, The Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Abou Tayoun AN; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address: ahmad.tayoun@ajch.ae.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2018 Nov; Vol. 20 (6), pp. 789-801. Date of Electronic Publication: 2018 Aug 08.
Autor:
Grant AR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA., Vincent LM; GeneDx, Gaithersburg, Maryland 20877, USA., Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Oct 01; Vol. 4 (5). Date of Electronic Publication: 2018 Oct 01 (Print Publication: 2018).
Autor:
Henrie A; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah., Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Ruiz-Schultz N; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah., Cushman B; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Azzariti D; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Harrison SM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts., Eilbeck K; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah.
Publikováno v:
Human mutation [Hum Mutat] 2018 Aug; Vol. 39 (8), pp. 1051-1060. Date of Electronic Publication: 2018 Jun 21.