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المؤلفون: Cocanougher BT; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA. Electronic address: benjamin.cocanougher@duke.edu., Liu SW; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA., Francescatto L; Department of Pathology, Duke University, Durham, NC, USA., Behura A; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA., Anneling M; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA., Jackson DG; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA., Deak KL; Department of Pathology, Duke University, Durham, NC, USA., Hornik CD; Department of Pediatrics, Duke University, Durham, NC, USA., ElMallah MK; Department of Pediatrics, Duke University, Durham, NC, USA., Pizoli CE; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Pediatric Neurology, Duke University, Durham, NC, USA., Smith EC; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Pediatric Neurology, Duke University, Durham, NC, USA., Tan KGQ; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA., McDonald MT; Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA. Electronic address: marie.mcdonald@duke.edu.

المصدر: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100288. Date of Electronic Publication: 2024 Apr 01.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

مواضيع طبية MeSH: Receptor Protein-Tyrosine Kinases*/genetics , Receptors, Cholinergic*/genetics , Receptors, Cholinergic*/metabolism , Receptors, Cholinergic*/chemistry, Humans ; Myasthenic Syndromes, Congenital/genetics ; Myasthenic Syndromes, Congenital/pathology ; Myasthenic Syndromes, Congenital/diagnosis ; Protein Domains/genetics ; Severity of Illness Index ; Male ; Female ; Infant, Newborn

المؤلفون: Deignan JL; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Bale AE; Yale University School of Medicine, New Haven, CT., Bellissimo DB; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA., Booker JK; Departments of Pathology and Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC., Cao Y; Department of Pathology and Immunology, School of Medicine, Washington University in St. Louis, St. Louis, MO., Crooks KR; Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, CO., Deak KL; Department of Pathology, Duke University, Durham, NC., Del Gaudio D; Department of Human Genetics, The University of Chicago, Chicago, IL., Funke B; Icahn School of Medicine at Mount Sinai, New York, NY., Hoppman NL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Horner V; Department of Pathology and Laboratory Medicine, School of Medicine and Public Health and Wisconsin State Laboratory of Hygiene, University of Wisconsin, Madison, WI., Hufnagel RB; National Human Genome Research Institute, National Eye Institute, National Institutes of Health, Bethesda, MD., Jackson-Cook C; Departments of Pathology and Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA., Koduru P; Department of Pathology, UT Southwestern Medical Center, Dallas, TX., Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Department of Pediatrics and Department of Pathology, The Ohio State University College of Medicine, Columbus, OH., Li S; Department of Pediatrics, Oklahoma University Health Sciences Center, Oklahoma City, OK., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX., Luo M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Mao R; Department of Pathology, University of Utah, Salt Lake City, UT.; ARUP Laboratories, Salt Lake City, UT., Mason-Suares H; Division of Clinical Cytogenetics, Center for Advanced Molecular Diagnostics, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA., Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Moore SR; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR., Naeem RC; Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, NY., Pollard LM; Greenwood Genetic Center, Greenwood, SC., Repnikova EA; Children's Mercy Kansas City, University of Missouri-Kansas City School of Medicine, Kansas City, MO., Shao L; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI., Shaw BM; Department of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, MI., Shetty S; Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, OH.; University Hospitals, Cleveland, OH., Smolarek TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Department of Pediatrics, University of Cincinnati, Cincinnati, OH., Spiteri E; Department of Pathology, School of Medicine, Stanford University, Stanford, CA., Van Ziffle J; Institute for Human Genetics, Department of Pathology, University of California, San Francisco, San Francisco, CA., Vance GH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Vnencak-Jones CL; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN., Williams ES; Department of Pathology, School of Medicine, University of Virginia, Charlottesville, VA.

المصدر: Genetics in medicine open [Genet Med Open] 2024; Vol. 2. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

المؤلفون: Beaman MM; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Medical Scientist Training Program, Duke University, Durham, North Carolina, USA., Guidugli L; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Hammer M; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Barrows C; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Laboratory for Pediatric Brain Disease, University of California San Diego, La Jolla, California, USA., Gregor A; Laboratory for Pediatric Brain Disease, University of California San Diego, La Jolla, California, USA.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Lee S; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Laboratory for Pediatric Brain Disease, University of California San Diego, La Jolla, California, USA., Deak KL; Department of Pathology, Duke University, Durham, North Carolina, USA., McDonald MT; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Jensen C; Children's Services, Duke University Health Center, Duke University, Durham, North Carolina, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Masri AT; Department of Pediatrics, Division of Child Neurology, University of Jordan, Amman, Jordan., Hobbs CA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Gleeson JG; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Laboratory for Pediatric Brain Disease, University of California San Diego, La Jolla, California, USA., Cohen JL; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Nov; Vol. 191 (11), pp. 2757-2767. Date of Electronic Publication: 2023 Aug 19.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Calpain*/genetics , Cerebellar Vermis* , Dandy-Walker Syndrome*/diagnosis , Dandy-Walker Syndrome*/genetics , Microcephaly*/complications, Animals ; Humans ; Mice ; Cerebellum/abnormalities ; Phenotype

المؤلفون: Pulster EL; College of Marine Science, University of South Florida, 140 7th Ave S, St. Petersburg 33701, FL, USA. Electronic address: epulster@usf.edu., Wichterman AE; School of Forest, Fisheries, & Geomatic Sciences, University of Florida, 136 Newins-Ziegler Hall, PO Box 110410, Gainesville, FL 32611, USA. Electronic address: awichterman@ufl.edu., Snyder SM; College of Marine Science, University of South Florida, 140 7th Ave S, St. Petersburg 33701, FL, USA. Electronic address: ssnyder4@usf.edu., Fogelson S; Fishhead Labs, LLC, Stuart, FL, USA. Electronic address: SFogelson@fishheadlabs.com., Da Silva BF; Department of Physiological Sciences, University of Florida, 1333 Center Drive, Gainesville, FL 32610, USA. Electronic address: biancadasilva@ufl.edu., Costa KA; Department of Physiological Sciences, University of Florida, 1333 Center Drive, Gainesville, FL 32610, USA. Electronic address: kcosta@ufl.edu., Aufmuth J; George A. Smathers Libraries, University of Florida, 1545 W University Ave, Gainesville, FL 32603, USA. Electronic address: mapper@uflib.ufl.edu., Deak KL; College of Marine Science, University of South Florida, 140 7th Ave S, St. Petersburg 33701, FL, USA. Electronic address: Kristina.Deak@swfwmd.state.fl.us., Murawski SA; College of Marine Science, University of South Florida, 140 7th Ave S, St. Petersburg 33701, FL, USA. Electronic address: smurawski@usf.edu., Bowden JA; Department of Physiological Sciences, University of Florida, 1333 Center Drive, Gainesville, FL 32610, USA. Electronic address: john.bowden@ufl.edu.

المصدر: The Science of the total environment [Sci Total Environ] 2022 Feb 25; Vol. 809, pp. 151143. Date of Electronic Publication: 2021 Oct 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0330500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1026 (Electronic) Linking ISSN: 00489697 NLM ISO Abbreviation: Sci Total Environ Subsets: MEDLINE

مواضيع طبية MeSH: Fluorocarbons*/analysis , Water Pollutants, Chemical*/analysis, Ecosystem ; Environmental Monitoring ; Liver/chemistry

المؤلفون: Hijazi G; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Paschall A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Young SP; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Smith B; Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Case LE; Doctor of Physical Therapy Division, Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA., Boggs T; Duke University Health System, Department of Physical Therapy and Occupational Therapy, USA., Amarasekara S; Duke University School of Nursing, Durham, NC, USA., Austin SL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., El-Gharbawy A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Deak KL; Department of Pathology, Duke University, Durham, NC, USA., Muir AJ; Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Nov 11; Vol. 29, pp. 100821. Date of Electronic Publication: 2021 Nov 11 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

المؤلفون: Deak KL; Department of Pathology, Duke University Medical Center, Durham, North Carolina. Electronic address: kristen.deak@duke.edu., Jackson JB; Personal Genome Diagnostics, Inc., Baltimore, Maryland. Electronic address: jjackson@pgdx.com., Valkenburg KC; Personal Genome Diagnostics, Inc., Baltimore, Maryland., Keefer LA; Personal Genome Diagnostics, Inc., Baltimore, Maryland., Robinson Gerding KM; Personal Genome Diagnostics, Inc., Baltimore, Maryland., Angiuoli SV; Personal Genome Diagnostics, Inc., Baltimore, Maryland., Datto MB; Department of Pathology, Duke University Medical Center, Durham, North Carolina., McCall SJ; Department of Pathology, Duke University Medical Center, Durham, North Carolina.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2021 Oct; Vol. 23 (10), pp. 1324-1333. Date of Electronic Publication: 2021 Jul 24.

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

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: Laboratories*, Genetic Testing/*methods , Genomics/*methods , High-Throughput Nucleotide Sequencing/*methods , Neoplasms/*genetics , Sequence Analysis, DNA/*methods, Biomarkers, Tumor/genetics ; DNA Copy Number Variations ; Humans ; INDEL Mutation ; Microsatellite Instability ; Polymorphism, Single Nucleotide

المؤلفون: Williams JL; Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States., McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States., Seifert BA; Department of Pathology, Duke University Medical Center, Durham, North Carolina, United States., Deak KL; Department of Pathology, Duke University Medical Center, Durham, North Carolina, United States., Rehder CW; Department of Pathology, Duke University Medical Center, Durham, North Carolina, United States., Campbell MJ; Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States.

المصدر: Journal of pediatric genetics [J Pediatr Genet] 2021 Mar; Vol. 10 (1), pp. 35-38. Date of Electronic Publication: 2020 Jan 20.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 101589859 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2146-4596 (Print) Linking ISSN: 2146460X NLM ISO Abbreviation: J Pediatr Genet Subsets: PubMed not MEDLINE

المؤلفون: Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Stong N; Institute of Genomic Medicine, Columbia University, New York, NY, USA., Deak KL; Department of Pathology, Duke University Medical Center, Durham, NC, USA., McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Goldstein DB; Institute of Genomic Medicine, Columbia University, New York, NY, USA., Jiang YH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. vandana.shashi@duke.edu.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jul; Vol. 22 (7), pp. 1269-1275. Date of Electronic Publication: 2020 May 05.

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: Exome* , Missed Diagnosis*, Alternative Splicing/genetics ; Exons/genetics ; Female ; Humans ; Male ; Protein Isoforms/genetics ; Exome Sequencing