المؤلفون: Tandukar B; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA., Deivendran D; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA., Chen L; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA., Cruz-Pacheco N; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA., Sharma H; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA., Xu A; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA., Bandari AK; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA., Chen DB; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.; School of Medicine, Case Western Reserve University, Cleveland, OH, USA., George C; Department of Dermatology, Erasmus MC, Rotterdam, Netherlands.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Dermatology, School of Medicine, Stanford University, Palo Alto, CA, USA., Marty A; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.; Institute of Physiology, University of Zurich, Zurich, Switzerland., Cho RJ; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA., Cheng J; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA., Saylor D; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA., Gerami P; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Arron ST; Peninsula Dermatology, Burlingame, CA, USA., Bastian BC; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.; Department of Pathology, University of California San Francisco, San Francisco, CA, USA., Shain AH; Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jul 24. Date of Electronic Publication: 2024 Jul 24.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Vasanthaiah S; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India., Verma R; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India., Kumar A; Manipal Academy of Higher Education, Manipal, Karnataka, India., Bandari AK; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India., George J; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India.; Department of Laboratory Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Rastogi M; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India., Manjunath GK; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India., Sharma J; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India., Kumar A; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India., Subramani J; Manipal Academy of Higher Education, Manipal, Karnataka, India., Chawla K; Department of Microbiology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Pandey A; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India.; Department of Laboratory Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.

المصدر: Open forum infectious diseases [Open Forum Infect Dis] 2024 Jun 15; Vol. 11 (7), pp. ofae320. Date of Electronic Publication: 2024 Jun 15 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Published by Oxford University Press on behalf of the Infectious Diseases Society of America Country of Publication: United States NLM ID: 101637045 Publication Model: eCollection Cited Medium: Print ISSN: 2328-8957 (Print) Linking ISSN: 23288957 NLM ISO Abbreviation: Open Forum Infect Dis Subsets: PubMed not MEDLINE

المؤلفون: Gerami P; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Tandukar B; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Deivendran D; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Olivares S; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Chen L; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Tang J; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Tan T; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA.; School of Medicine, University of California, San Diego, San Diego, CA, USA., Sharma H; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Bandari AK; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Cruz-Pacheco N; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Chang D; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA.; Department of Immunology, H. Lee Moffitt Cancer Center, Tampa, FL, USA., Marty A; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA.; Institute of Physiology, University of Zurich, Zurich, Switzerland., Olshen A; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA.; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA., Murad NF; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA., Song J; Division of Biostatistics, Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Lee J; Division of Biostatistics, Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Yeh I; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA.; Department of Pathology, University of California, San Francisco, San Francisco, CA, USA., Hunter Shain A; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 05. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Bellad A; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.; Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India., Bandari AK; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.; Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India., Pandey A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Girimaji SC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA. girimaji@nimhans.kar.nic.in.; Department of Child and Adolescent Psychiatry, NIMHANS, Hosur Road, Bangalore, 560029, India. girimaji@nimhans.kar.nic.in., Muthusamy B; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India. babylakshmi@ibioinformatics.org.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India. babylakshmi@ibioinformatics.org.; Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India. babylakshmi@ibioinformatics.org.

المصدر: Journal of molecular neuroscience : MN [J Mol Neurosci] 2020 Sep; Vol. 70 (9), pp. 1403-1409. Date of Electronic Publication: 2020 May 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*genetics , Face/*abnormalities , Fingers/*abnormalities , Growth Disorders/*genetics , Hypogonadism/*genetics , Mental Retardation, X-Linked/*genetics , Obesity/*genetics , Repressor Proteins/*genetics, Adolescent ; Child ; Conserved Sequence ; Humans ; Male ; Mutation, Missense ; Pedigree ; Repressor Proteins/chemistry

SCR Disease Name: Borjeson-Forssman-Lehmann syndrome

المؤلفون: Muthusamy B; Institute of Bioinformatics, Bangalore, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Manipal Academy of Higher Education, Manipal, India., Bellad A; Institute of Bioinformatics, Bangalore, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Manipal Academy of Higher Education, Manipal, India., Prasad P; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Bandari AK; Institute of Bioinformatics, Bangalore, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Manipal Academy of Higher Education, Manipal, India., Bhuvanalakshmi G; Institute of Bioinformatics, Bangalore, India., Kiragasur RM; Department of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Girimaj SC; Department of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Pandey A; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Manipal Academy of Higher Education, Manipal, India.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.

المصدر: Frontiers in psychiatry [Front Psychiatry] 2020; Vol. 11, pp. 354. Date of Electronic Publication: 2020 May 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101545006 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1664-0640 (Print) Linking ISSN: 16640640 NLM ISO Abbreviation: Front Psychiatry Subsets: PubMed not MEDLINE

المؤلفون: Muthusamy B; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India., Nguyen TT; Department of Molecular Biology and Metabolic Disease, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA., Bandari AK; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India., Basheer S; Department of Child and Adolescent Psychiatry, NIMHANS, Hosur Road, Bangalore, 560029, India., Selvan LDN; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India., Chandel D; Department of Molecular Reproduction, Development and Genetics, Division of Biological Sciences, Indian Institute of Science, Bangalore, India., Manoj J; Department of Child and Adolescent Psychiatry, NIMHANS, Hosur Road, Bangalore, 560029, India., Gayen S; Department of Molecular Reproduction, Development and Genetics, Division of Biological Sciences, Indian Institute of Science, Bangalore, India., Seshagiri S; Department of Molecular Biology and Metabolic Disease, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA., Chandra Girimaji S; Department of Child and Adolescent Psychiatry, NIMHANS, Hosur Road, Bangalore, 560029, India. Electronic address: girimaji@nimhans.kar.nic.in., Pandey A; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India; Department of Laboratory Medicine and Pathology, Rochester, MN, 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA. Electronic address: pandey.akhilesh@mayo.edu.

المصدر: European journal of medical genetics [Eur J Med Genet] 2020 Jan; Vol. 63 (1), pp. 103635. Date of Electronic Publication: 2019 Feb 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Autism Spectrum Disorder/*genetics , Craniofacial Abnormalities/*genetics , Growth Disorders/*genetics , Intellectual Disability/*genetics , Tumor Suppressor Proteins/*genetics , Ubiquitin-Protein Ligases/*genetics, Abnormalities, Multiple/pathology ; Adolescent ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Comparative Genomic Hybridization ; Cranial Sutures/diagnostic imaging ; Cranial Sutures/pathology ; Craniofacial Abnormalities/pathology ; Exome/genetics ; Female ; Growth Disorders/pathology ; Humans ; Intellectual Disability/pathology ; Male ; Protein Isoforms/genetics ; RNA Splice Sites/genetics ; Exome Sequencing

SCR Disease Name: Say Meyer syndrome

المؤلفون: Bandari AK; Institute of Bioinformatics, International Technology Park, Bangalore, India.; Manipal Academy of Higher Education, Manipal, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences, Bangalore, India., Muthusamy B; Institute of Bioinformatics, International Technology Park, Bangalore, India.; Manipal Academy of Higher Education, Manipal, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences, Bangalore, India., Bhat S; Pediatric Haematology, Oncology and Blood & Bone Marrow Transplantation, Mazumdar-Shaw Cancer Center, Narayana Health City, Bangalore, India., Govindaraj P; Neuromuscular Laboratory, Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India., Rajagopalan P; Institute of Bioinformatics, International Technology Park, Bangalore, India., Dalvi A; National Institute of Immunohaematology, KEM Hospital Campus, Mumbai, India., Shankar S; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences, Bangalore, India., Raja R; Institute of Bioinformatics, International Technology Park, Bangalore, India.; Manipal Academy of Higher Education, Manipal, India.; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences, Bangalore, India., Reddy KS; Institute of Bioinformatics, International Technology Park, Bangalore, India., Madkaikar M; National Institute of Immunohaematology, KEM Hospital Campus, Mumbai, India., Pandey A; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences, Bangalore, India.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.

المصدر: Frontiers in immunology [Front Immunol] 2019 Aug 21; Vol. 10, pp. 1964. Date of Electronic Publication: 2019 Aug 21 (Print Publication: 2019).

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

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Immunologic Deficiency Syndromes/*genetics , Mycobacterium Infections/*genetics , Receptors, Interferon/*genetics, Humans ; Infant ; Male ; Mutation ; RNA Splice Sites

المؤلفون: Bandari AK; 1 Institute of Bioinformatics, Bangalore, India.; 2 Manipal Academy of Higher Education, Manipal, Karnataka, India.; 3 Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Bhat S; 4 Pediatric Hematology, Oncology and Bone Marrow Transplant, Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India., Archana MV; 4 Pediatric Hematology, Oncology and Bone Marrow Transplant, Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India., Yadavalli S; 1 Institute of Bioinformatics, Bangalore, India., Patel K; 1 Institute of Bioinformatics, Bangalore, India.; 5 Amrita School of Biotechnology, Amrita Vishwa Vidyapeetham, Kollam, India., Rajagopalan P; 1 Institute of Bioinformatics, Bangalore, India., Madugundu AK; 1 Institute of Bioinformatics, Bangalore, India.; 2 Manipal Academy of Higher Education, Manipal, Karnataka, India.; 3 Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; 6 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; 7 Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Madkaikar M; 8 National Institute of Immunohaematology, KEM Hospital Campus, Mumbai, India., Reddy K; 1 Institute of Bioinformatics, Bangalore, India., Muthusamy B; 1 Institute of Bioinformatics, Bangalore, India.; 2 Manipal Academy of Higher Education, Manipal, Karnataka, India.; 3 Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Pandey A; 3 Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; 6 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; 7 Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.

المصدر: Omics : a journal of integrative biology [OMICS] 2019 May; Vol. 23 (5), pp. 285-290.

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

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101131135 Publication Model: Print Cited Medium: Internet ISSN: 1557-8100 (Electronic) Linking ISSN: 15362310 NLM ISO Abbreviation: OMICS Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing/*methods , Interleukin Receptor Common gamma Subunit/*genetics, Exome/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Mutation/genetics ; Primary Immunodeficiency Diseases/genetics