Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Posey, Jennifer E."'
Autor:
Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Brokamp E; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Signer R; Department of Human Genetics, University of California, Los Angeles, CA, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Glanton E; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Macnamara E; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA., Lincoln S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Golden-Grant K; Division of Medical Genetics, University of Washington, Seattle, WA, USA., Orengo JP; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Clark G; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Robertson A; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Cogan J; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Martinez-Agosto J; Department of Human Genetics, University of California, Los Angeles, CA, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1397. Date of Electronic Publication: 2020 Jul 30.
Autor:
Hansen AW; 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., Murugan M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Khayat MM; 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., Wang L; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Andrews BK; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Ashley-Koch AE; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA; Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; 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., Davis EE; Pediatric Genetic and translational Medicine Center (P-GeM), Stanley Manne Children's Research Institute, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Katsanis N; Pediatric Genetic and translational Medicine Center (P-GeM), Stanley Manne Children's Research Institute, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Sabo A; 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., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, 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; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; School of Public Health, UTHealth, Houston, TX 77030, USA., 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. Electronic address: agibbs@bcm.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Nov 07; Vol. 105 (5), pp. 974-986. Date of Electronic Publication: 2019 Oct 24.
Autor:
Liu P; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Meng L; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Normand EA; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Xia F; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Song X; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Ghazi A; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Rosenfeld J; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Magoulas PL; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Braxton A; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Ward P; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Dai H; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Yuan B; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Bi W; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Xiao R; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Wang X; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Chiang T; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Vetrini F; Baylor Genetics, Houston, TX., He W; Baylor Genetics, Houston, TX., Cheng H; Baylor Genetics, Houston, TX., Dong J; Baylor Genetics, Houston, TX., Gijavanekar C; Baylor Genetics, Houston, TX., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL., Bernstein JA; Stanford University School of Medicine, Stanford, CA., Eble T; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Eroglu Y; Oregon Health and Science University, Portland, OR., Erwin D; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Escobar L; St. Vincent's Peyton Manning Children's Hospital, Indianapolis, IN., Gibson JB; Dell Children's Medical Group, Austin, TX., Gripp K; A.I. DuPont Hospital for Children, Wilmington, DE., Kleppe S; Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Koenig MK; UTHealth at McGovern Medical School, Houston, TX., Lewis AM; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Natowicz M; Cleveland Clinic, Cleveland, OH., Mancias P; UTHealth at McGovern Medical School, Houston, TX., Minor L; UTHealth at McGovern Medical School, Houston, TX., Scaglia F; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Schaaf CP; Heidelberg University, Heidelberg, Germany., Streff H; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Vernon H; Johns Hopkins School of Medicine, Baltimore, MD., Uhles CL; Children's Health Hospital, Dallas, TX., Zackai EH; Children's Hospital of Philadelphia, Philadelphia, PA., Wu N; Peking Union Medical College Hospital, Beijing, China., Sutton VR; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Beaudet AL; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Muzny D; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Gibbs RA; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Posey JE; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Lalani S; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Shaw C; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Eng CM; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Lupski JR; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu., Yang Y; Baylor College of Medicine, Houston, TX pengfei.liu@bcm.edu.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2019 Jun 20; Vol. 380 (25), pp. 2478-2480.
Autor:
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jennifer.posey@bcm.edu., O'Donnell-Luria AH; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Boston Children's Hospital, Boston, MA, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA, USA., Harel T; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Jhangiani SN; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Buyske S; Department of Genetics, Rutgers University, Piscataway, NJ, USA.; Department of Statistics, Rutgers University, Piscataway, NJ, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 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 N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kumar S; Computational Biology and Bioinformatics Program, Yale University Medical School, New Haven, CT, USA., Avramopoulos D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., White JJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA., Doheny KF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Witmer PD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Boehm C; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Muzny DM; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Boerwinkle E; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Human Genetics Center, University of Texas Health Science Center, Houston, TX, USA., Günel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Mane S; Yale Center for Genome Analysis, Yale School of Medicine, Yale University, New Haven, CT, USA., MacArthur DG; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Lifton RP; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Matise TC; Department of Genetics, Rutgers University, Piscataway, NJ, USA., Rehm HL; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gerstein M; Computational Biology and Bioinformatics Program, Yale University Medical School, New Haven, CT, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Apr; Vol. 21 (4), pp. 798-812. Date of Electronic Publication: 2019 Jan 18.
Autor:
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Jennifer.Posey@bcm.edu., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Harel T; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Bahrambeigi V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Graduate Program in Diagnostic Genetics, School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Yuregir OO; Genetic Diagnosis Center, University of Health Sciences, City Hospital, Adana, Turkey., Bozdogan S; Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana, Turkey., Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul, Turkey., Isikay S; Department of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep, Turkey., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Jennifer.Posey@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. Jennifer.Posey@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. Jennifer.Posey@bcm.edu.; Texas Children's Hospital, Houston, Texas, USA. Jennifer.Posey@bcm.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1528-1537. Date of Electronic Publication: 2018 Apr 26.
Autor:
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas 77030.; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, Texas 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030.; Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, Texas 77030., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030.; Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, Texas 77030.; Department of Neuroscience, Baylor College of Medicine (BCM), Houston, Texas 77030., Chao HT; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, Texas 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030.; Department of Pediatrics, Section of Child Neurology, Baylor College of Medicine (BCM), Houston, Texas 77030., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas 77030., Westerfield M; Institute of Neuroscience, University of Oregon, Eugene, Oregon 97403., Postlethwait J; Institute of Neuroscience, University of Oregon, Eugene, Oregon 97403., Hieter P; Michael Smith Laboratories, University of British Columbia, Vancouver, British Columbia V6T 1Z4C, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario K1H 8L1, Canada., Campeau PM; Department of Pediatrics, University of Montreal, Quebec H3T 1C5, Canada., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas 77030 hbellen@bcm.edu.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030.; Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, Texas 77030.; Department of Neuroscience, Baylor College of Medicine (BCM), Houston, Texas 77030.; Howard Hughes Medical Institute, Baylor College of Medicine (BCM), Houston, Texas 77030.
Publikováno v:
Genetics [Genetics] 2017 Sep; Vol. 207 (1), pp. 9-27.
Autor:
Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Present Address: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 W. 11th Street, Indianapolis, IN, 46202, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Institute of Computer Science, Warsaw University of Technology, 00-665, Warsaw, Poland., Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Women and Children's Division, Oslo University Hospital, 0424, Oslo, Norway., Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, CEDEX 1, France., Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, CEDEX 1, France.; Atlantic Gene Therapies, UMR1089, Nantes, France., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Penney S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Orange JS; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital Center for Human Immuno-Biology, Houston, TX, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Chiang T; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX, 7703, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., 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.; Baylor-Hopkins Center for Mendelian Genomics, Baltimore, MD, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu.; Texas Children's Hospital, Houston, TX, 77030, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX, 77030-3498, USA. jlupski@bcm.edu.
Publikováno v:
Genome medicine [Genome Med] 2017 Mar 21; Vol. 9 (1), pp. 26. Date of Electronic Publication: 2017 Mar 21.
Autor:
Posey JE; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Harel T; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Liu P; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Rosenfeld JA; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., James RA; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Coban Akdemir ZH; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Walkiewicz M; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Bi W; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Xiao R; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Ding Y; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Xia F; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Beaudet AL; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Muzny DM; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Gibbs RA; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Boerwinkle E; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Eng CM; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Sutton VR; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Shaw CA; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Plon SE; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Yang Y; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston., Lupski JR; From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2017 Jan 05; Vol. 376 (1), pp. 21-31. Date of Electronic Publication: 2016 Dec 07.
Autor:
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., James RA; Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, Texas, USA., Bainbridge M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Niu Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Dhar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medicine, Baylor College of Medicine, Houston, Texas, USA., Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Person RE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, University of Texas Health Science Center, Houston, Texas, USA., Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Cancer Center, Texas Children's Hospital, Houston, Texas, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Jul; Vol. 18 (7), pp. 678-85. Date of Electronic Publication: 2015 Dec 03.