المؤلفون: Abdel-Samiee M; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt., Youssef MI; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Elghamry F; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Bazeed M; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Al-Shorbagy M; Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Shalaby H; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Shabana H; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt.; Department of Internal Medicine, College of Medicine, Shaqra University, Dawadmi, Saudi Arabia., Abdelsameea E; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt., Lashin HES; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., El Zamek HMF; Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Esam T; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt., Alwaseef MAA; Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Helmy HA; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt., Almarshad F; Department of Internal Medicine, College of Medicine, Shaqra University, Dawadmi, Saudi Arabia., Khalaf FA; Department of Clinical Biochemistry, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt., Yossef BWA; Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Kassem A; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Gabr BM; Department of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta, Egypt., Abdelfattah A; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt., S AboShabaan H; Department of Clinical Pathology, National Liver Institute, Menoufia University, Menoufia, Egypt., Aboufarrag GA; Hepatology, Gastroenterology and Infectious Diseases, Al-Azhar University, Cairo, Egypt., Omar MM; Department of Clinical Pathology, Faculty of Medicine, Menoufia University, Shebin El-Kom, Egypt., Bakeer MS; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Imam MS; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Ibrahim ES; RCSI Medical University of Bahrain, Adliya, Bahrain., Kamel SY; Department of Tropical Medicine, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Allisy T; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Mohammed OS; Department of Microbiology, College of Medicine, Najran University, Najran, Saudi Arabia.; Department of Medical Microbiology and Immunology, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Farahat A; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., El-Khayat MM; Department of Tropical Medicine, Faculty of Medicine, Menoufia University, Shebeen El-Kom, Egypt., Sekeen MAH; Hepatology, Gastroenterology and Infectious Diseases, Al-Azhar University, Cairo, Egypt., Zaher EM; Department of Clinical Pathology, Faculty of Medicine, Menoufia University, Shebin El-Kom, Egypt., Said A; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Abuamer A; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt., Elmahdi E; Department of Internal Medicine, College of Medicine, Shaqra University, Dawadmi, Saudi Arabia.; Department of Internal medicine, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

المصدر: Journal of medical virology [J Med Virol] 2023 Dec; Vol. 95 (12), pp. e29248.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7705876 Publication Model: Print Cited Medium: Internet ISSN: 1096-9071 (Electronic) Linking ISSN: 01466615 NLM ISO Abbreviation: J Med Virol Subsets: MEDLINE

مواضيع طبية MeSH: Hepatitis C, Chronic*/complications , Hepatitis C, Chronic*/epidemiology , Cryoglobulinemia*/epidemiology , HIV Infections* , Hepatitis C*, Humans ; Male ; Middle Aged ; Female ; Prevalence ; Cross-Sectional Studies ; Cryoglobulins ; T-Lymphocytes ; Prognosis ; Hepacivirus/genetics

المؤلفون: Helmy HA; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Menoufia, Egypt., AbdElhamed MR; Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Youssef MI; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., El Zamek HMF; Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Kamal A; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Menoufia, Egypt., Abdelfattah A; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Menoufia, Egypt., Shabana H; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Abuamer A; Department of Hepatology and Gastroenterology, National Liver Institute, Menoufia University, Menoufia, Egypt., Aboufarrag GA; Departments of Hepatology, Gastroenterology, and Infectious Diseases, Al-Azhar University, Cairo, Egypt., Elshormilisy AA; Department of Internal Medicine, Faculty of Medicine, Helwan University, Cairo, Egypt., Elwazzan D; Department of Tropical Medicine, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Saied SA; Department of Clinical Pathology, National Liver Institute, Menoufia University, Menoufia, Egypt., Elfert AY; Department of Clinical Biochemistry, National Liver Institute, Menoufia University, Menoufia, Egypt., Kamel SY; Department of Tropical Medicine, Faculty of Medicine, Ain Shams University, Cairo, Egypt., El Sharnoby A; Department of Clinical Pathology, National Liver Institute, Menoufia University, Menoufia, Egypt., Zedan HA; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Gabr BM; Department of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta, Egypt., Khalil F; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Elmancy IM; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Lashin HE; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., AboShabaan HS; Department of Clinical Pathology, National Liver Institute, Menoufia University, Menoufia, Egypt., Nassar Y; Department of Internal Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt., Elfiky SRAE; Department of Clinical Pharmacology, Faculty of Medicine, Menoufia University, Shebeen El-Kom, Egypt., Elkhadry SW; Department of Epidemiology and Preventive Medicine, National Liver Institute, Menoufia University, Shebeen El-Kom, Egypt., Sakr MA; Department of Medical Microbiology and Immunology, Faculty of Medicine, Suez University, Suez, Egypt., Eid AM; Department of Gastroenterology, Hepatology and Infectious Diseases, Shebin El-Kom Teaching Hospital, Shebin El-Kom, Egypt., Kotb SE; Al Jalila Children's Speciality Hospital, Dubai, United Arab Emirates., Omar MM; Department of Clinical Pathology, Faculty of Medicine, Menoufia University, Menoufia, Egypt., El-Khayat MM; Department of Tropical Medicine, Faculty of Medicine, Menoufia University, Shebeen El-Kom, Egypt.

المصدر: The American journal of tropical medicine and hygiene [Am J Trop Med Hyg] 2023 Jul 03; Vol. 109 (2), pp. 350-355. Date of Electronic Publication: 2023 Jul 03 (Print Publication: 2023).

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: American Society of Tropical Medicine and Hygiene Country of Publication: United States NLM ID: 0370507 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1476-1645 (Electronic) Linking ISSN: 00029637 NLM ISO Abbreviation: Am J Trop Med Hyg Subsets: MEDLINE

مواضيع طبية MeSH: Methicillin-Resistant Staphylococcus aureus* , Staphylococcal Infections*/drug therapy , Staphylococcal Infections*/epidemiology , Staphylococcal Infections*/microbiology , Diabetes Mellitus*/drug therapy, Humans ; Clindamycin/pharmacology ; Clindamycin/therapeutic use ; Staphylococcus aureus/genetics ; Anti-Bacterial Agents/pharmacology ; Anti-Bacterial Agents/therapeutic use ; Egypt/epidemiology ; Hospitals, University ; Microbial Sensitivity Tests

المؤلفون: Chander V; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hu J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Dawood M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Li S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Korchina V; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Shen H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Weissenberger G; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Murdock DR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Computer Science, Rice University, Houston, Texas, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

المصدر: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 2033-2053. Date of Electronic Publication: 2022 Sep 24.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Intellectual Disability*/genetics , Musculoskeletal Abnormalities* , Neurodevelopmental Disorders*/genetics, Humans ; DNA-Binding Proteins/genetics ; Endoribonucleases ; Phosphoprotein Phosphatases ; Qa-SNARE Proteins ; RNA-Binding Proteins ; Sphingomyelin Phosphodiesterase

المؤلفون: Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sahraeian SME; Roche Sequencing Solutions, Santa Clara, CA, USA., Zarate S; DNAnexus, Mountain View, CA, USA., Carroll A; DNAnexus, Mountain View, CA, USA., Hong H; National Center for Toxicological Research, Food and Drug Administration, Jefferson, AR, USA., Pan B; National Center for Toxicological Research, Food and Drug Administration, Jefferson, AR, USA., Shi L; State Key Laboratory of Genetic Engineering, Human Phenome Institute, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, China.; Institute of Thoracic Oncology, Fudan University, Shanghai, China., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Mohiyuddin M; Roche Sequencing Solutions, Santa Clara, CA, USA., Zheng Y; State Key Laboratory of Genetic Engineering, Human Phenome Institute, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, China. zhengyuanting@fudan.edu.cn.; Institute of Thoracic Oncology, Fudan University, Shanghai, China. zhengyuanting@fudan.edu.cn., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.

المصدر: Genome biology [Genome Biol] 2021 Dec 20; Vol. 22 (1), pp. 347. Date of Electronic Publication: 2021 Dec 20.

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

بيانات الدورية: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

مواضيع طبية MeSH: Genomic Structural Variation* , Germ Cells*, Genomics/*methods , High-Throughput Nucleotide Sequencing/*methods, Base Sequence ; Bias ; Chromosome Mapping ; Sequence Analysis, DNA

المؤلفون: Foox J; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA., Tighe SW; University of Vermont Cancer Center, Vermont Integrative Genomics Resource, University of Vermont, Burlington, VT, USA., Nicolet CM; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Zook JM; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., Byrska-Bishop M; New York Genome Center, New York, NY, USA., Clarke WE; New York Genome Center, New York, NY, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Laaguiby PK; University of Vermont Cancer Center, Vermont Integrative Genomics Resource, University of Vermont, Burlington, VT, USA., Herbert ZT; Molecular Biology Core Facilities, Dana-Farber Cancer Institute, Boston, MA, USA., Warner D; DNA Sequencing Core, University of Utah, Salt Lake City, UT, USA., Grills GS; Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA., Jen J; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Levy S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Xiang J; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA., Alonso A; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA., Zhao X; BGI-Shenzhen, Shenzhen, China.; MGI, BGI-Shenzhen, Shenzhen, China., Zhang W; BGI-Shenzhen, Shenzhen, China., Teng F; BGI-Shenzhen, Shenzhen, China., Zhao Y; BGI-Shenzhen, Shenzhen, China.; Department of Biotechnology and Biomedicine, Technical University of Denmark, Lyngby, Denmark., Lu H; BGI-Shenzhen, Shenzhen, China.; Guangdong Provincial Key Laboratory of Genome Read and Write, Shenzhen, China., Schroth GP; Illumina, Inc., San Diego, CA, USA., Narzisi G; New York Genome Center, New York, NY, USA., Farmerie W; Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu., Baldwin DA; Department of Pathology, Fox Chase Cancer Center, Philadelphia, PA, USA. donald.baldwin@fccc.edu., Mason CE; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA. chm2042@med.cornell.edu.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA. chm2042@med.cornell.edu.; The Feil Family Brain and Mind Research Institute, New York, NY, USA. chm2042@med.cornell.edu.; The WorldQuant Initiative for Quantitative Prediction, Weill Cornell Medicine, New York, NY, USA. chm2042@med.cornell.edu.

المصدر: Nature biotechnology [Nat Biotechnol] 2021 Nov; Vol. 39 (11), pp. 1466.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Tosur M; Department of Pediatrics, The Section of Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Chan KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Refaey A; Department of Biology and Biochemistry, University of Houston, Houston, Texas, USA., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Murdock DR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Balasubramanyam A; Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, Texas, USA., Redondo MJ; Department of Pediatrics, The Section of Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.

المصدر: Pediatric diabetes [Pediatr Diabetes] 2021 Nov; Vol. 22 (7), pp. 960-968. Date of Electronic Publication: 2021 Aug 19.

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

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-5448 (Electronic) Linking ISSN: 1399543X NLM ISO Abbreviation: Pediatr Diabetes Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing*, Diabetes Mellitus, Type 2/*genetics, Adolescent ; Autoantibodies/blood ; Child ; Diabetes Mellitus, Type 1 ; Diagnosis, Differential ; Female ; Frameshift Mutation/genetics ; Genetic Variation ; Humans ; Islets of Langerhans/immunology ; Male ; Mutation, Missense/genetics ; Pedigree

المؤلفون: Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; These authors contributed equally to this work., Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; These authors contributed equally to this work., Jiang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; These authors contributed equally to this work., Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Chander V; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Dawood M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA., Hansen AW; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Li S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Friedman J; UCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Cross L; Department of Pediatrics and Genetics, Children's Mercy Hospitals, Kansas City, MO, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Innis JW; Departments of Human Genetics, Pediatrics, and Internal Medicine, University of Michigan, Ann Arbor, MI, USA., O'Shea JO; Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA., Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Neurological Research Institute, Houston, TX, USA., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murdock D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

المصدر: HGG advances [HGG Adv] 2021 Oct 14; Vol. 2 (4). Date of Electronic Publication: 2021 Aug 10.

نوع المنشور: Journal Article

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: PubMed not MEDLINE

المؤلفون: Foox J; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA., Tighe SW; University of Vermont Cancer Center, Vermont Integrative Genomics Resource, University of Vermont, Burlington, VT, USA., Nicolet CM; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Zook JM; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., Byrska-Bishop M; New York Genome Center, New York, NY, USA., Clarke WE; New York Genome Center, New York, NY, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Laaguiby PK; University of Vermont Cancer Center, Vermont Integrative Genomics Resource, University of Vermont, Burlington, VT, USA., Herbert ZT; Molecular Biology Core Facilities, Dana-Farber Cancer Institute, Boston, MA, USA., Warner D; DNA Sequencing Core, University of Utah, Salt Lake City, UT, USA., Grills GS; Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA., Jen J; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Levy S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Xiang J; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA., Alonso A; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA., Zhao X; BGI-Shenzhen, Shenzhen, China.; MGI, BGI-Shenzhen, Shenzhen, China., Zhang W; BGI-Shenzhen, Shenzhen, China., Teng F; BGI-Shenzhen, Shenzhen, China., Zhao Y; BGI-Shenzhen, Shenzhen, China.; Department of Biotechnology and Biomedicine, Technical University of Denmark, Lyngby, Denmark., Lu H; BGI-Shenzhen, Shenzhen, China.; Guangdong Provincial Key Laboratory of Genome Read and Write, Shenzhen, China., Schroth GP; Illumina, Inc., San Diego, CA, USA., Narzisi G; New York Genome Center, New York, NY, USA., Farmerie W; Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu., Baldwin DA; Department of Pathology, Fox Chase Cancer Center, Philadelphia, PA, USA. donald.baldwin@fccc.edu., Mason CE; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA. chm2042@med.cornell.edu.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA. chm2042@med.cornell.edu.; The Feil Family Brain and Mind Research Institute, New York, NY, USA. chm2042@med.cornell.edu.; The WorldQuant Initiative for Quantitative Prediction, Weill Cornell Medicine, New York, NY, USA. chm2042@med.cornell.edu.

المصدر: Nature biotechnology [Nat Biotechnol] 2021 Sep; Vol. 39 (9), pp. 1129-1140. Date of Electronic Publication: 2021 Sep 09.

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.; Validation Study

بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing/*methods , High-Throughput Nucleotide Sequencing/*standards , Sequence Analysis, DNA/*methods , Sequence Analysis, DNA/*standards, Base Pair Mismatch ; Benchmarking ; DNA/genetics ; DNA, Bacterial/genetics ; Genome, Bacterial ; Genome, Human ; Humans

المؤلفون: Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Dawood M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Farek JR; 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., Khan ZM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Coban-Akdemir Z; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA., Venner E; 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., Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: agibbs@bcm.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1239-1250. Date of Electronic Publication: 2021 Jun 14.

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: 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: Exome* , Genome, Human* , Polymorphism, Single Nucleotide*, Cohort Studies ; Genetic Diseases, Inborn/genetics ; Humans ; Reference Values

المؤلفون: Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Sisoudiya SD; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA., Martin-Giacalone BA; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Dugan-Perez S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Marquez-Do DA; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA., Scheurer ME; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.; Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; School of Public Health, the University of Texas Health Science Center, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chi YY; Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA., Barkauskas DA; QuadW Childhood Sarcoma Biostatistics and Annotation Office at the Children's Oncology Group, Monrovia, CA, USA.; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Lo T; QuadW Childhood Sarcoma Biostatistics and Annotation Office at the Children's Oncology Group, Monrovia, CA, USA., Hall D; QuadW Childhood Sarcoma Biostatistics and Annotation Office at the Children's Oncology Group, Monrovia, CA, USA., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA., Schiffman JD; Departments of Pediatrics and Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA., Skapek SX; Department of Pediatrics, the University of Texas Southwestern Medical Center, Dallas, TX, USA., Hawkins DS; Division of Hematology-Oncology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Plon SE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Lupo PJ; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.; Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA.

المصدر: Journal of the National Cancer Institute [J Natl Cancer Inst] 2021 Jul 01; Vol. 113 (7), pp. 875-883.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE

مواضيع طبية MeSH: Li-Fraumeni Syndrome*/genetics , Rhabdomyosarcoma*/genetics, Child ; Genetic Predisposition to Disease ; Germ Cells ; Germ-Line Mutation ; Humans