المؤلفون: Sack LM; Department of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA.; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA, USA., Mertens L; Department of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA., Murphy E; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA, USA., Hutchinson L; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA, USA., Giersch ABS; Department of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA., Mason-Suares H; Department of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA.; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA, USA.

المصدر: Clinical chemistry [Clin Chem] 2023 Jun 01; Vol. 69 (6), pp. 583-594.

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: Hearing Loss, Sensorineural*/diagnosis , Hearing Loss, Sensorineural*/genetics , Deafness*/genetics , Infertility, Male*/genetics, Humans ; Male ; DNA Copy Number Variations ; Microarray Analysis/methods ; Intercellular Signaling Peptides and Proteins/genetics

SCR Disease Name: Deafness, Sensorineural, And Male Infertility

المؤلفون: Brandt T; GeneDx, Gaithersburg, MD, USA. tbrandt@genedx.com., Sack LM; GeneDx, Gaithersburg, MD, USA., Arjona D; GeneDx, Gaithersburg, MD, USA., Tan D; GeneDx, Gaithersburg, MD, USA., Mei H; GeneDx, Gaithersburg, MD, USA., Cui H; GeneDx, Gaithersburg, MD, USA., Gao H; GeneDx, Gaithersburg, MD, USA., Bean LJH; Department of Human Genetics, Emory University, Atlanta, GA, USA.; EGL Genetic Diagnostics LLC, Tucker, GA, USA., Ankala A; Department of Human Genetics, Emory University, Atlanta, GA, USA.; EGL Genetic Diagnostics LLC, Tucker, GA, USA., Del Gaudio D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA., Johnson AK; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA., Vincent LM; GeneDx, Gaithersburg, MD, USA.; Children's National Health System, Washington, DC, USA., Reavey C; GeneDx, Gaithersburg, MD, USA., Lai A; GeneDx, Gaithersburg, MD, USA., Richard G; GeneDx, Gaithersburg, MD, USA., Meck JM; GeneDx, Gaithersburg, MD, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 670-671.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Brandt T; GeneDx, Gaithersburg, MD, USA. tbrandt@genedx.com., Sack LM; GeneDx, Gaithersburg, MD, USA., Arjona D; GeneDx, Gaithersburg, MD, USA., Tan D; GeneDx, Gaithersburg, MD, USA., Mei H; GeneDx, Gaithersburg, MD, USA., Cui H; GeneDx, Gaithersburg, MD, USA., Gao H; GeneDx, Gaithersburg, MD, USA., Bean LJH; Department of Human Genetics, Emory University, Atlanta, GA, USA.; EGL Genetic Diagnostics LLC, Tucker, GA, USA., Ankala A; Department of Human Genetics, Emory University, Atlanta, GA, USA.; EGL Genetic Diagnostics LLC, Tucker, GA, USA., Del Gaudio D; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA., Knight Johnson A; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA., Vincent LM; GeneDx, Gaithersburg, MD, USA.; Children's National Health System, Washington, DC, USA., Reavey C; GeneDx, Gaithersburg, MD, USA., Lai A; GeneDx, Gaithersburg, MD, USA., Richard G; GeneDx, Gaithersburg, MD, USA., Meck JM; GeneDx, Gaithersburg, MD, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Feb; Vol. 22 (2), pp. 336-344. Date of Electronic Publication: 2019 Sep 19.

نوع المنشور: Journal Article

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: DNA Copy Number Variations/*genetics , High-Throughput Nucleotide Sequencing/*standards , Sequence Analysis, DNA/*classification, Computational Biology/methods ; Gene Dosage/genetics ; Genetic Testing/methods ; Genetic Variation/genetics ; Genome, Human/genetics ; Genomics/methods ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Laboratories ; Mutation/genetics ; Sequence Analysis, DNA/methods

المؤلفون: Zirin J; Department of Genetics, Harvard Medical School, Boston, MA 02115., Ni X; Department of Genetics, Harvard Medical School, Boston, MA 02115., Sack LM; Department of Genetics, Harvard Medical School, Boston, MA 02115., Yang-Zhou D; Department of Genetics, Harvard Medical School, Boston, MA 02115., Hu Y; Department of Genetics, Harvard Medical School, Boston, MA 02115., Brathwaite R; Department of Genetics, Harvard Medical School, Boston, MA 02115., Bulyk ML; Department of Genetics, Harvard Medical School, Boston, MA 02115.; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115., Elledge SJ; Department of Genetics, Harvard Medical School, Boston, MA 02115.; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115.; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115., Perrimon N; Department of Genetics, Harvard Medical School, Boston, MA 02115; perrimon@genetics.med.harvard.edu.; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Jul 16; Vol. 116 (29), pp. 14614-14619. Date of Electronic Publication: 2019 Jul 01.

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

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acyl-tRNA Synthetases/*metabolism , DNA-Binding Proteins/*metabolism , Drosophila Proteins/*metabolism , Gene Expression Regulation, Neoplastic/*drug effects , Neoplasms/*drug therapy , Transcription Factors/*metabolism, Amino Acyl-tRNA Synthetases/antagonists & inhibitors ; Animals ; Animals, Genetically Modified ; Cell Line ; Cell Survival/drug effects ; Cell Survival/genetics ; DNA-Binding Proteins/genetics ; Drosophila Proteins/genetics ; Epithelial Cells ; Female ; Humans ; Insulin/metabolism ; Male ; Neoplasms/genetics ; Neoplasms/pathology ; RNA Interference ; Signal Transduction/drug effects ; Signal Transduction/genetics ; Transcription Factors/genetics

المؤلفون: Sack LM; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Davoli T; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Li MZ; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Li Y; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Shandong Provincial Hospital affiliated to Shandong University, Jinan 250021, China., Xu Q; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Naxerova K; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Wooten EC; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Bernardi RJ; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Department of Molecular and Human Genetics, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA., Martin TD; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Chen T; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Laura and Isaac Perlmutter Cancer Center, New York University Langone Medical Center, New York, NY, USA., Leng Y; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Liang AC; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA., Scorsone KA; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Department of Molecular and Human Genetics, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA., Westbrook TF; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Department of Molecular and Human Genetics, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA., Wong KK; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Laura and Isaac Perlmutter Cancer Center, New York University Langone Medical Center, New York, NY, USA., Elledge SJ; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA. Electronic address: selledge@genetics.med.harvard.edu.

المصدر: Cell [Cell] 2018 Apr 05; Vol. 173 (2), pp. 499-514.e23. Date of Electronic Publication: 2018 Mar 22.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: Aneuploidy*, Neoplasms/*pathology, Animals ; Cell Line, Tumor ; Cell Proliferation ; Chromosome Mapping ; Chromosomes/genetics ; E2F1 Transcription Factor/antagonists & inhibitors ; E2F1 Transcription Factor/genetics ; E2F1 Transcription Factor/metabolism ; Female ; Gene Library ; Genomics ; Humans ; Keratins/metabolism ; Mice ; Mice, Inbred NOD ; Mice, SCID ; Oncogenes ; Open Reading Frames/genetics ; RNA Interference ; RNA, Small Interfering/metabolism

المؤلفون: Sack LM; Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115 Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115., Davoli T; Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115 Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115., Xu Q; Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115 Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115., Li MZ; Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115 Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115., Elledge SJ; Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115 Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115 selledge@genetics.med.harvard.edu.

المصدر: G3 (Bethesda, Md.) [G3 (Bethesda)] 2016 Sep 08; Vol. 6 (9), pp. 2781-90. Date of Electronic Publication: 2016 Sep 08.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Electronic Cited Medium: Internet ISSN: 2160-1836 (Electronic) Linking ISSN: 21601836 NLM ISO Abbreviation: G3 (Bethesda) Subsets: MEDLINE

مواضيع طبية MeSH: DNA Barcoding, Taxonomic/*standards , Genetic Testing/*standards , Mammals/*genetics, Animals ; Cell Culture Techniques/standards ; Genetic Vectors ; Genome ; Plasmids/genetics ; Polymerase Chain Reaction/standards ; RNA, Small Interfering/genetics

المؤلفون: Yoon JC; Department of Genetics, Harvard Medical School, Boston, MA 02115., Ling AJ, Isik M, Lee DY, Steinbaugh MJ, Sack LM, Boduch AN, Blackwell TK, Sinclair DA, Elledge SJ

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2014 Mar 11; Vol. 111 (10), pp. 3781-6. Date of Electronic Publication: 2014 Feb 20.

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

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Stress, Physiological*/physiology, Mitochondria/*physiology , Proto-Oncogene Proteins c-myc/*metabolism , Signal Transduction/*physiology , Tumor Suppressor Proteins/*metabolism, Adenosine Triphosphate/metabolism ; Animals ; Blotting, Western ; Caenorhabditis elegans ; Cells, Cultured ; DNA Primers/genetics ; Databases, Genetic ; Flow Cytometry ; Humans ; Immunoprecipitation ; Microarray Analysis ; Mitochondria/metabolism ; Open Reading Frames/genetics ; Oxygen Consumption/physiology ; RNA Interference

المؤلفون: Olive AJ; Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115, USA., Haff MG; Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115, USA., Emanuele MJ; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02215, USA; Howard Hughes Medical Institute., Sack LM; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02215, USA; Howard Hughes Medical Institute., Barker JR; Department of Microbiology and Molecular Genetics, Duke University Medical School, Durham, NC 22710, USA., Elledge SJ; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02215, USA; Howard Hughes Medical Institute., Starnbach MN; Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115, USA. Electronic address: starnbach@hms.harvard.edu.

المصدر: Cell host & microbe [Cell Host Microbe] 2014 Jan 15; Vol. 15 (1), pp. 113-24.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101302316 Publication Model: Print Cited Medium: Internet ISSN: 1934-6069 (Electronic) Linking ISSN: 19313128 NLM ISO Abbreviation: Cell Host Microbe Subsets: MEDLINE

مواضيع طبية MeSH: Protein Processing, Post-Translational*, Chlamydia Infections/*microbiology , Chlamydia trachomatis/*physiology , Proteome/*metabolism , Transcription Factor AP-1/*metabolism, Animals ; Cell Survival ; Chlamydia Infections/genetics ; Chlamydia Infections/metabolism ; DNA Replication ; Female ; Fluorescent Dyes ; HeLa Cells ; Host-Pathogen Interactions ; Humans ; Mice ; Mice, Inbred C57BL ; Microscopy, Fluorescence ; NIMA-Interacting Peptidylprolyl Isomerase ; Peptidylprolyl Isomerase/genetics ; Peptidylprolyl Isomerase/metabolism ; Proteome/genetics ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins/metabolism ; Signal Transduction ; Transcription Factor AP-1/genetics ; Transcription, Genetic

المؤلفون: Davoli T; Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Xu AW, Mengwasser KE, Sack LM, Yoon JC, Park PJ, Elledge SJ

المصدر: Cell [Cell] 2013 Nov 07; Vol. 155 (4), pp. 948-62. Date of Electronic Publication: 2013 Oct 31.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

مواضيع طبية MeSH: Algorithms* , Aneuploidy* , Genes, Tumor Suppressor* , Oncogenes*, Neoplasms/*genetics, Gene Dosage ; Humans