부산대학교 도서관

McDaniel JH; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA. jennifer.mcdaniel@nist.gov.; Patel V; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; He HJ; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; He Z; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Cole KD; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Gooden AA; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Schmitt A; Arima Genomics, Inc., 6354 Corte Del Abeto Suite B, Carlsbad, CA, 92011, USA.; Sikkink K; Arima Genomics, Inc., 6354 Corte Del Abeto Suite B, Carlsbad, CA, 92011, USA.; Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Computer Science, Rice University, 6100 Main Street, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Mehta H; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Behera S; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Hastie AR; Bionano Genomics, San Diego, USA.; Yu HC; Bionano Genomics, San Diego, USA.; Weigman V; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Rojas A; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Kennedy K; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Remington J; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Salas-González I; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Sudkamp M; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Wiseman K; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Lajoie BR; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Levy S; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Jain M; Genome Technology Laboratory, Northeastern University, 360 Huntington Ave, Boston, MA, 02115, USA.; Akeson S; Genome Technology Laboratory, Northeastern University, 360 Huntington Ave, Boston, MA, 02115, USA.; Narzisi G; New York Genome Center, New York, NY, 10013, USA.; Steinsnyder Z; New York Genome Center, New York, NY, 10013, USA.; Reeves C; New York Genome Center, New York, NY, 10013, USA.; Shelton J; New York Genome Center, New York, NY, 10013, USA.; Kingan SB; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Lambert C; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Baybayan P; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Wenger AM; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; McLaughlin IJ; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Adamson A; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Kingsley C; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Wescott M; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Kim Y; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Park J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Violich I; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Gardner J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; McNulty B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Rosen GL; Ecological and Evolutionary Signal-processing and Informatics (EESI) Lab, College of Engineering, Drexel University, Philadelphia, PA, USA.; McCoy R; Department of Biology, Johns Hopkins University, 3400 N. Charles St., Baltimore, MD, 21218, USA.; Brundu F; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Sayyari E; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Scheffler K; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Truong S; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Catreux S; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Hannah LC; National Cancer Institute, Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Institutes of Health, 9609 Medical Center Dr, Rockville, MD, 20850, USA.; Lipson D; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Benjamin H; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Iremadze N; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Soifer I; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Krieger G; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Eacker S; Phase Genomics, Inc, Seattle, WA, USA.; Wood M; Phase Genomics, Inc, Seattle, WA, USA.; Cross E; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Husar G; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Gross S; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Vernich M; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Kolmogorov M; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Ahmad T; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Keskus AG; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Bryant A; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894, USA.; Trow J; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894, USA.; Proszynski J; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Hirschberg JW; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Ryon K; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Mason CE; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Bhakta MS; Dovetail Genomics, part of Cantata Bio, 100 Enterprise Way, Suite A101, Scotts Valley, CA, 95066, USA.; Sanborn JZ; Dovetail Genomics, part of Cantata Bio, 100 Enterprise Way, Suite A101, Scotts Valley, CA, 95066, USA.; Munding EM; Dovetail Genomics, part of Cantata Bio, 100 Enterprise Way, Suite A101, Scotts Valley, CA, 95066, USA.; Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894, USA.; Liss AS; Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.; Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA. justin.zook@nist.gov.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE; PubMed not MEDLINE

McDaniel JH; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA. jennifer.mcdaniel@nist.gov.; Patel V; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; He HJ; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; He Z; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Cole KD; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Gooden AA; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Schmitt A; Arima Genomics, Inc., 6354 Corte Del Abeto Suite B, Carlsbad, CA, 92011, USA.; Sikkink K; Arima Genomics, Inc., 6354 Corte Del Abeto Suite B, Carlsbad, CA, 92011, USA.; Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Computer Science, Rice University, 6100 Main Street, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Mehta H; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Behera S; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA.; Hastie AR; Bionano Genomics, San Diego, USA.; Yu HC; Bionano Genomics, San Diego, USA.; Weigman V; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Rojas A; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Kennedy K; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Remington J; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Salas-González I; BioSkryb Genomics, 2810 Meridian Pkwy, ste110, Durham, NC, 27713, USA.; Sudkamp M; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Wiseman K; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Lajoie BR; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Levy S; Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon Rd, San Diego, CA, 92121, USA.; Jain M; Genome Technology Laboratory, Northeastern University, 360 Huntington Ave, Boston, MA, 02115, USA.; Akeson S; Genome Technology Laboratory, Northeastern University, 360 Huntington Ave, Boston, MA, 02115, USA.; Narzisi G; New York Genome Center, New York, NY, 10013, USA.; Steinsnyder Z; New York Genome Center, New York, NY, 10013, USA.; Reeves C; New York Genome Center, New York, NY, 10013, USA.; Shelton J; New York Genome Center, New York, NY, 10013, USA.; Kingan SB; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Lambert C; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Baybayan P; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Wenger AM; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; McLaughlin IJ; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Adamson A; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Kingsley C; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Wescott M; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Kim Y; PacBio, 1305 O'Brien Drive, Menlo Park, CA, 94025, USA.; Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Park J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Violich I; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Gardner J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; McNulty B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Rosen GL; Ecological and Evolutionary Signal-processing and Informatics (EESI) Lab, College of Engineering, Drexel University, Philadelphia, PA, USA.; McCoy R; Department of Biology, Johns Hopkins University, 3400 N. Charles St., Baltimore, MD, 21218, USA.; Brundu F; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Sayyari E; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Scheffler K; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Truong S; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Catreux S; Illumina, Inc., DRAGEN, 5200 Illumina Way, San Diego, CA, 92122, USA.; Hannah LC; National Cancer Institute, Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Institutes of Health, 9609 Medical Center Dr, Rockville, MD, 20850, USA.; Lipson D; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Benjamin H; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Iremadze N; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Soifer I; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Krieger G; Ultima Genomics Inc., 4425 Technology Dr, Fremont, CA, 94538, USA.; Eacker S; Phase Genomics, Inc, Seattle, WA, USA.; Wood M; Phase Genomics, Inc, Seattle, WA, USA.; Cross E; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Husar G; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Gross S; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Vernich M; KROMATID, 1880 Industrial Circle, Suite A, Longmont, Colorado, 80501, USA.; Kolmogorov M; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Ahmad T; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Keskus AG; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Bryant A; Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD, 20892, USA.; Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894, USA.; Trow J; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894, USA.; Proszynski J; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Hirschberg JW; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Ryon K; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Mason CE; Weill Cornell Medicine, Physiology and Biophysics and WorldQuant Initiative, 1300 York Avenue, New York, NY, 10021, USA.; Bhakta MS; Dovetail Genomics, part of Cantata Bio, 100 Enterprise Way, Suite A101, Scotts Valley, CA, 95066, USA.; Sanborn JZ; Dovetail Genomics, part of Cantata Bio, 100 Enterprise Way, Suite A101, Scotts Valley, CA, 95066, USA.; Munding EM; Dovetail Genomics, part of Cantata Bio, 100 Enterprise Way, Suite A101, Scotts Valley, CA, 95066, USA.; Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA.; Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 45 Center Drive, Bethesda, MD, 20894, USA.; Liss AS; Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.; Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr., Gaithersburg, MD, 20899, USA. justin.zook@nist.gov.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE

Levine JM; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: jesse.levine@bcm.edu.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Saad A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Celik MY; Department of Pediatric Metabolism, Adana City Training and Research Hospital, Adana, Türkiye.; Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye; Acibadem Maslak Hospital, Istanbul, Türkiye.; Yildiz Er H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Yilmaz Gulec E; Department of Medical Genetics, İstanbul Medeniyet University Medical School, Istanbul, Türkiye; Medical Genetics Clinic, Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Istanbul, Türkiye.; Mushiba A; Section of Medical Genetics, Department of Pediatrics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Almontashiri N; College of Applied Medical Sciences and Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.; Karaca E; Department of Pathology, Baylor University Medical Center, Dallas, TX, USA; Texas A&M School of Medicine, Dallas, TX, USA.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Medical Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

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

Nikhita Gogate; Angad Jolly; Jill A. Rosenfeld; Paulina Bahena-Carbajal; Jonathan A. Bernstein; Devon Bonner; Tiffany Busa; Ingrid Cristian; Precilla D’Souza; Jennifer Friedman; Svetlana Gorokhova; Thomas Haaf; Isabella Herman; Ugur Ufuk Isin; Shalini N Jhangiani; Ivy Johnson; Jerica Lenberg; Ellen F. Macnamara; Reza Maroofian; Undiagnosed Diseases Network; Melissa Racobaldo; Olivia L Redlich; Cynthia Tifft; Tulay Tos; Barbara Vona; Regina M. Zambrano; Ingrid M. Wentzensen; Kristen Wigby; Davut Pehlivan; Richard A Gibbs; James R Lupski; Jennifer E Posey

medRxiv

Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lun MY; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Gagarina L; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Bengtsson JD; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Grochowski CM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Mehaffey MG; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Hwang JP; 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.; Bhamidipati SV; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Poli MC; Program of Immunogenetics and Translational Immunology, Faculty of Medicine, Clínica Alemana-Universidad del Desarrollo, 7610658, Santiago, Chile.; Ochoa S; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, 77030, USA.; Chinn IK; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, 77030, USA.; Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 17176, Stockholm, Sweden.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu.; Texas Children's Hospital, Houston, TX, 77030, USA. jlupski@bcm.edu.; Carvalho CMB; Pacific Northwest Research Institute, Seattle, WA, 98122, USA. ccarvalho@pnri.org.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Beheshti ST; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Westerfield LE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, 77030, USA.; Munderloh C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Kalra D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Wu Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Chen Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Gingras MC; 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.; Yilmaz S; Dr. Sare Nur Yilmaz, Independent Practice, Istanbul, 34758, Turkey.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lead Contact.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Fu Y; English AC; Paulin LF; Jhangiani SN; Weissenberger G; Vee V; Han Y; Mehta HH; Muzny DM; Gibbs RA; Posey JE; Calame DG; Sedlazeck FJ

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Watkin, Levi B; Forbes, Lisa R; Mace, Emily M; Liu, Dongfang; Nicholas, Sarah K; Nahmod, Karen; Makedonas, George; Canter, Debra L; Orange, Jordan S; Hicks, John; Jones, Kirk D; Jhangiani, Shalini N; Muzny, Donna M; Rosenblum, Michael D; Dell, Sharon D; Waterfield, Michael R; Boerwinkle, Eric; Gibbs, Richard A; Lupski, James R; Shum, Anthony K

Nature Genetics. Jun2015, Vol. 47 Issue 6, p654-660. 7p. 1 Diagram, 2 Charts, 3 Graphs.

Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R

European Journal of Human Genetics. Sep2014, Vol. 22 Issue 9, p1145-1148. 4p.

Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Yesil G; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul 34093, Turkey.; Elçioglu NH; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul and Eastern Mediterranean University Faculty of Medicine, Mersin 10, Turkey.; Gezdirici A; Department of Medical Genetics, University of Health Sciences, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Gambin T; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; 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; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Harrold L; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Salter CG; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.; Kikuma T; Department of Biotechnology, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.; Guay KP; Program in Molecular and Cellular Biology, University of Massachusetts Amherst, Amherst, MA, USA; Department of Biochemistry and Molecular Biology, University of Massachusetts Amherst, Amherst, MA, USA.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.; Sano K; Department of Biotechnology, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gürsoy S; Department of Pediatric Genetics, Dokuz Eylul University, Faculty of Medicine, Izmir, Turkey.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Ahmed MKH; Department of Prenatal Diagnosis and Fetal Medicine, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Salayev K; Fetal-Neonatal Neuroimaging & Developmental Science Center, Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Jones WD; The North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.; Pérez Caballero A; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.; McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK; University of Plymouth, Plymouth, UK.; Spiller M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Durkie M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Wood N; Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.; O'Grady L; Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston, MA, USA.; Goldenberg P; Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston, MA, USA.; Neumeyer AM; Massachusetts General Hospital for Children, Lurie Center for Autism, Lexington, MA, USA.; Begtrup A; GeneDx LLC, Gaithersburg, MD, USA.; Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Wenger OK; New Leaf Center, Clinic for Special Children, Mount Eaton, OH, USA.; Scott EM; New Leaf Center, Clinic for Special Children, Mount Eaton, OH, USA.; Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Leslie JS; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Ubeyratna N; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Day J; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Owens M; Exeter Genomics Laboratory, RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Settle J; Exeter Genomics Laboratory, RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Balkhy S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.; Tamim A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Takeda Y; Department of Biotechnology, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.; Hebert DN; Program in Molecular and Cellular Biology, University of Massachusetts Amherst, Amherst, MA, USA; Department of Biochemistry and Molecular Biology, University of Massachusetts Amherst, Amherst, MA, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Crosby AH; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. Electronic address: a.h.crosby@exeter.ac.uk.; Baple EL; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Gladstone Road, Exeter, UK. Electronic address: e.baple@exeter.ac.uk.

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

Mace, Emily M; Paust, Silke; Conte, Matilde I; Baxley, Ryan M; Schmit, Megan M; Patil, Sagar L; Guilz, Nicole C; Mukherjee, Malini; Pezzi, Ashley E; Chmielowiec, Jolanta; Tatineni, Swetha; Chinn, Ivan K; Akdemir, Zeynep Coban; Jhangiani, Shalini N; Muzny, Donna M; Stray-Pedersen, Asbjørg; Bradley, Rachel E; Moody, Mo; Connor, Philip P; Heaps, Adrian G

Journal of Clinical Investigation. Oct2020, Vol. 130 Issue 10, p5272-5286. 15p.

Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America.; Chen J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Silverman GA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America.; Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.; Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America.; Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Sumya FT; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Pakistan Science Foundation (PSF), Islamabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.; Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan.; Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Withers MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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, Texas, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Lupashin VV; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Marafi D; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Elhossini R; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; El-Rashidy OF; Department of Pediatrics, Faculty of Medicine Ain Shams University, Cairo, Egypt.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pacific Northwest Research Institute, Seattle, WA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address: daniel.calame@bcm.edu.; Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ.; Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Boys Town National Research Hospital, Boys Town, NE.; Ammouri F; Boys Town National Research Hospital, Boys Town, NE; The University of Kansas Health System, Westwood, KS.; Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Alavi S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom.; Firoozfar Z; Palindrome, Isfahan, Iran.; Nasab ME; Meybod Genetic Research Center, Yazd, Iran; Yazd Welfare Organization, Yazd, Iran.; Bahreini A; KaryoGen, Isfahan, Iran; Department of Human Genetics, University of Pittsburgh, PA.; Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom.; Begtrup A; GeneDx, Gaithersburg, MD.; Elloumi H; GeneDx, Gaithersburg, MD.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; 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.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.; Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.; Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA.; Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA.; Oberg KC; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA.; Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA.; Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine Department, University College London, United Kingdom.; Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Mardi A; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX. Electronic address: jlupski@bcm.edu.; Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. Electronic address: bchnnl@nus.edu.sg.

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

Bergen, Nicole J Van; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J H; Akdemir, Zeynep H Coban; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V; Jhangiani, Shalini N; Fatih, Jawid M

Brain: A Journal of Neurology. Jan2020, Vol. 143 Issue 1, p112-130. 19p.

Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Punetha J; 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.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA.; Li H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; 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, Texas, USA.; Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Pacific Northwest Research Institute, Seattle, Washington, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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

Pehlivan D; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA. pehlivan@bcm.edu.; Bengtsson JD; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Bajikar SS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lun MY; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Gandhi M; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Trostle AJ; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Harris HK; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Meyer Center for Developmental Pediatrics and Autism, 8080 North Stadium Drive, Houston, TX, 77054, USA.; Suter B; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Aras S; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Ramocki MB; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; University Otolaryngology, East Greenwich, RI, 02818, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Mehaffey MG; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Park K; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Wilkey E; Pacific Northwest Research Institute, Seattle, WA, 98122, USA.; Karakas C; Department of Pediatrics, Division of Neurology, University of Louisville, Louisville, KY, 40202, USA.; Eisfeldt JJ; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Liu L; Department of Neurology, Division of Epilepsy, University of North Carolina, Chapel Hill, NC, 27599, USA.; Shinawi MS; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Kimonis VE; Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.; Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA.; Mckenzie K; Department of Pediatrics, Division of General and Community Pediatrics, University of Alberta, Edmonton, AB, T6G 2R7, Canada.; Roser T; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. Von Haunersches Children's Hospital, Ludwig Maximilian University of Munich, Munich, 80337, Germany.; Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, São Paulo - SP, 05508-090, Brazil.; Cornier AS; Department of Genetics, San Jorge Children's Hospital, San Juan, 00771, Puerto Rico.; Abdelmoity A; Division of Neurology, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, 64108, USA.; Hwang JP; 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.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Mitani T; Department of Pediatrics, Jichi Medical University, Shimotsuke-City, Tochigi, 329-0498, Japan.; Muramatsu K; Department of Pediatrics, Jichi Medical University, Shimotsuke-City, Tochigi, 329-0498, Japan.; Nabatame S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, 565-0871, Japan.; Glaze DG; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Liu Z; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.; Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Zoghbi HY; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Howard Hughes Medical Institute and Jan and Dan Duncan Neurological Research Institute, Houston, TX, 77030, USA. hzoghbi@bcm.edu.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. ccarvalho@pnri.org.; Pacific Northwest Research Institute, Seattle, WA, 98122, USA. ccarvalho@pnri.org.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE