المؤلفون: Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA. Electronic address: smullegama@genedx.com., Kiernan KA; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Pavlovsky E; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Tilton N; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Sekula A; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Gao H; GeneDx, Gaithersburg, MD 20877, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Engleman K; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Rush ET; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Blocker K; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Fettig VM; Center for Inherited Cardiovascular Disease, Cardiovascular Genetics Program, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hare H; Northeastern Ontario Medical Genetics Program, Health Sciences, North Sudbury, ON, Canada., Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Griffin M; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Phornphutkul C; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Massingham L; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Mehta L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Muller E 2nd; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Sawyer SL; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Hickey RE; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Wolf B; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Choudhary S; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Simonović M; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Zhang Y; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA., Palculict TB; GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Morrow MM; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Yang J; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA. Electronic address: junyang@utmb.edu., Juusola J; GeneDx, Gaithersburg, MD 20877, USA.

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 778-790. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: Intellectual Disability*/genetics , Musculoskeletal Abnormalities*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Child ; Humans ; Developmental Disabilities/genetics ; Exons ; Mammals/genetics ; Muscle Hypotonia/genetics ; Neuroblastoma/genetics ; Reactive Oxygen Species

المؤلفون: Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Pathology, Harvard Medical School, Boston, MA. Electronic address: hrehm@mgh.harvard.edu., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Aradhya S; Invitae, San Francisco, CA; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Best H; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Brandon R; GeneDx, LLC, Gaithersburg, MD., Buchan JG; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Chao EC; Ambry Genetics, Aliso Viejo, CA., Chen E; Invitae, San Francisco, CA., Clifford J; Ambry Genetics, Aliso Viejo, CA., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA; Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA., Das S; Human Genetics, University of Chicago, Chicago, IL., Davis KW; Variantyx, Framingham, MA., Del Gaudio D; Human Genetics, University of Chicago, Chicago, IL., Del Viso F; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., DiVincenzo C; Quest Diagnostics, Marlborough, MA., Eisenberg M; Women's Health and Genetics, Labcorp, Research Triangle Park, NC., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA., Hammer MB; Rady Children's Institute for Genomic Medicine, San Diego, CA., Harrison SM; Ambry Genetics, Aliso Viejo, CA., Hatchell KE; Invitae, San Francisco, CA., Dyer LH; GeneDx, LLC, Gaithersburg, MD., Hoang LU; Ambry Genetics, Aliso Viejo, CA., Holt JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., 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., Karbassi ID; Quest Diagnostics, Marlborough, MA., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kelly JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kluge ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Komala T; Ambry Genetics, Aliso Viejo, CA., Kruszka P; GeneDx, LLC, Gaithersburg, MD., Lau L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Lebo MS; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA., Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., McKnight D; Invitae, San Francisco, CA., McWalter K; GeneDx, LLC, Gaithersburg, MD., Meng Y; Fulgent Genetics, Temple City, CA., Nagan N; Women's Health and Genetics, Labcorp, Westborough, MA., Neckelmann CS; Fulgent Genetics, Temple City, CA., Neerman N; Variantyx, Framingham, MA., Niu Z; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Paolillo VK; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Paolucci SA; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Perry D; Illumina, Inc, San Diego, CA., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Radtke K; Ambry Genetics, Aliso Viejo, CA., Rasmussen KJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Retterer K; GeneDx, LLC, Gaithersburg, MD., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics and Pathology, School of Medicine, University of Missouri, Kansas City, MO., Spiteri E; Department of Pathology, Stanford Medicine, Palo Alto, CA., Stanley C; Variantyx, Framingham, MA., Szuto A; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Taft RJ; Illumina, Inc, San Diego, CA., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Thomas BC; Illumina, Inc, San Diego, CA., Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY., Thorpe E; Illumina, Inc, San Diego, CA., Tidwell TJ; ARUP Laboratories, Salt Lake City, UT., Towne MC; Ambry Genetics, Aliso Viejo, CA., Zouk H; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA.

مؤلفون مشاركون: Medical Genome Initiative Steering Committee

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100947. Date of Electronic Publication: 2023 Jul 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: 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

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Genetic Testing*/methods, Humans ; Genomics ; Exome/genetics ; North America

المؤلفون: Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Yuan W; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Rodriguez-Polanco WR; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Grubbs J; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., Zhang B; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Graham G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Sawyer S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland., Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Marseille Medical Genetics U1251, Aix Marseille University, Marseille, 13005, France., Kłosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, 80-210, Poland., Fieg E; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Krier J; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Mallebranche C; Unité d'Onco-Hémato-Immunologie pédiatrique, CHU d'Angers, Angers, 49933, France., Alban Z; Service de génétique, CHU d'Angers, Angers, 49933, France., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA., Ritter D; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX, 77030, USA., Macnamara E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD, 20892, USA., Sullivan B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Helbig C; The Epilepsy Neurogenetics Initiative, Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Ellis CA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia PA, 19104, USA., van Eyk C; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Farrugia D; Haematology, Mater Dei Hospital, Msida, MSD2090, Malta., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Adès L; Department of Clinical Genetics, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, 2145, Australia., van den Boogaard MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Fuchs S; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Bakker J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Duran K; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Dawson ZD; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Lindsey A; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Huang H; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Baldridge D; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Silverman GA; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Grant BD; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Raizen D; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Pak SC; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943, Flensburg, Germany., Schedl T; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., van Hasselt P; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Human molecular genetics [Hum Mol Genet] 2023 Oct 17; Vol. 32 (21), pp. 3063-3077.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

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

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Intellectual Disability*/genetics , Megalencephaly*/genetics, Animals ; Humans ; Child ; Zebrafish/genetics ; Zebrafish/metabolism ; Caenorhabditis elegans/metabolism ; Phenotype ; rab GTP-Binding Proteins/genetics ; rab GTP-Binding Proteins/metabolism ; Developmental Disabilities/genetics ; Mutation, Missense/genetics ; rab5 GTP-Binding Proteins/genetics ; rab5 GTP-Binding Proteins/metabolism

المؤلفون: Wee E; Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Herriges J; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Dileepan K; Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Tsai SL; Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Alaimo JT; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Paprocki E; Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, MO, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.

المصدر: Case reports in endocrinology [Case Rep Endocrinol] 2023 Jun 26; Vol. 2023, pp. 8658540. Date of Electronic Publication: 2023 Jun 26 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 101576457 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6501 (Print) Linking ISSN: 2090651X NLM ISO Abbreviation: Case Rep Endocrinol Subsets: PubMed not MEDLINE

المؤلفون: Lansdon LA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA., Herriges JC; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA., Johnston J; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA., Yoo B; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA., Miller N; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Bionano Genomics, Inc., 9540 Towne Centre Dr., Suite 100, San Diego, CA, USA., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA., Repnikova EA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA., Zhang L; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA., Farooqi MS; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA., Farrow EG; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.; Department of Pediatrics Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, 2401 Gillham Rd., Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute-Kansas City, 2420 Pershing Rd. Suite 100, Kansas City, MO, USA.; School of Medicine, University of Missouri-Kansas City, 2411 Holmes St., Kansas City, MO, USA.

المصدر: Clinical chemistry [Clin Chem] 2022 Sep 01; Vol. 68 (9), pp. 1177-1183.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human* , Laboratories*, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase ; Alleles ; Cell Cycle Proteins ; Exome ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Membrane Proteins ; Receptor-Like Protein Tyrosine Phosphatases, Class 3

المؤلفون: Cohen ASA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Farrow EG; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Abdelmoity AT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Amudhavalli SM; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Anderson JT; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Bansal L; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Bartik L; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Baybayan P; Pacific Biosciences of California, Inc, Menlo Park, CA., Belden B; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Berrios CD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Biswell RL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Buczkowicz P; PhenoTips, Toronto, Canada., Buske O; PhenoTips, Toronto, Canada., Chakraborty S; Pacific Biosciences of California, Inc, Menlo Park, CA., Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Coffman KA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cooper AM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cross LA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Curran T; Children's Mercy Research Institute, Kansas City, MO., Dang TTT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Elfrink MM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Engleman KL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Fecske ED; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fieser C; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fitzgerald K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fleming EA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gadea RN; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gannon JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gelineau-Morel RN; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Gibson M; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Goldstein J; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Grundberg E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Halpin K; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Harvey BS; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Heese BA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Hein W; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Herd SM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Hughes SS; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Ilyas M; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jacobson J; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jenkins JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Jiang S; Bionano Genomics, Inc, San Diego, CA., Johnston JJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Keeler K; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Korlach J; Pacific Biosciences of California, Inc, Menlo Park, CA., Kussmann J; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Lambert C; Pacific Biosciences of California, Inc, Menlo Park, CA., Lawson C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Le Pichon JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Leeder JS; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Little VC; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Louiselle DA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Lypka M; Bionano Genomics, Inc, San Diego, CA., McDonald BD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Miller N; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Allergy Immunology Pulmonary and Sleep Medicine, Children's Mercy Kansas City, Kansas City, MO., Modrcin A; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Nair A; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Neal SH; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Oermann CM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Pacicca DM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Pawar K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Posey NL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Price N; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Puckett LMB; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Quezada JF; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Raje N; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Neonatology, Children's Mercy Kansas City, Kansas City, MO., Rowell WJ; Pacific Biosciences of California, Inc, Menlo Park, CA., Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, MO., Sampath V; Division of Neonatology, Children's Mercy Hospital Kansas City, Kansas City, MO., Saunders CJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Schwager C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Schwend RM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Shaffer E; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Smail C; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Soden S; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Strenk ME; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sweeney BR; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Tam-Williams JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Walter AM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Welsh H; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Wenger AM; Pacific Biosciences of California, Inc, Menlo Park, CA., Willig LK; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Yan Y; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Younger ST; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Zhou D; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Zion TN; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO. Electronic address: ithiffault@cmh.edu., Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Children's Mercy Research Institute, Kansas City, MO. Electronic address: tpastinen@cmh.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1336-1348. Date of Electronic Publication: 2022 Mar 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Genomics* , Rare Diseases*/diagnosis , Rare Diseases*/genetics, Child ; Genome ; High-Throughput Nucleotide Sequencing ; Humans ; Pedigree ; Sequence Analysis, DNA

المؤلفون: Hanson J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Brezavar D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hughes S; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Amudhavalli S; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Fleming E; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Zhou D; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

المصدر: Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 214-220. Date of Electronic Publication: 2021 Nov 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: 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

مواضيع طبية MeSH: Mutation*, Adaptor Proteins, Signal Transducing/*genetics , Cardiovascular Diseases/*diagnosis , Cardiovascular Diseases/*genetics , Connective Tissue Diseases/*diagnosis , Connective Tissue Diseases/*genetics , Neurodevelopmental Disorders/*diagnosis , Neurodevelopmental Disorders/*genetics, Adolescent ; Adult ; Alleles ; Biopsy ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Young Adult

المؤلفون: Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA.; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA.; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.

المصدر: Clinical chemistry [Clin Chem] 2021 Jul 06; Vol. 67 (7), pp. 932-934.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

مواضيع طبية MeSH: Biological Specimen Banks* , Clinical Laboratory Services*, Big Data ; Humans ; Laboratories, Clinical ; United Kingdom

المؤلفون: Lansdon LA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri., Yoo B; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri., Miller N; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Zellmer L; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri., Zhang L; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Farrow EG; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri; Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, Missouri., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Repnikova EA; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Cooley LD; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Porath B; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri., Herriges JC; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Farooqi MS; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Department of Pathology, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri. Electronic address: msfarooqi@cmh.edu.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2021 May; Vol. 23 (5), pp. 651-657. Date of Electronic Publication: 2021 Feb 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Genome, Human* , Molecular Sequence Annotation*, High-Throughput Nucleotide Sequencing/*standards , Laboratories/*standards , Sequence Analysis, DNA/*standards, Data Accuracy ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Reference Values ; Sequence Analysis, DNA/methods