Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Jhangiani SN"'
Autor:
Wrensch, Margaret, Jalali, A, Amirian, ES, Bainbridge, MN, Armstrong, GN, Liu, Y, Tsavachidis, S, Jhangiani, SN, Plon, SE, Lau, CC, Claus, EB
Publikováno v:
Wrensch, Margaret; Jalali, A; Amirian, ES; Bainbridge, MN; Armstrong, GN; Liu, Y; et al.(2015). Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/44j4p54f
Glioma is a rare, but highly fatal, cancer that accounts for the majority of malignant primary brain tumors. Inherited predisposition to glioma has been consistently observed within non-syndromic families. Our previous studies, which involved non-par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::596298c7f353d224fd8cc8bb38c91783
http://www.escholarship.org/uc/item/44j4p54f
http://www.escholarship.org/uc/item/44j4p54f
Autor:
Richards, S, Gibbs, RA, Weinstock, GM, Brown, SJ, Denell, R, Beeman, RW, Gibbs, R, Bucher, G, Friedrich, M, Grimmelikhuijzen, CJ, Klingler, M, Lorenzen, M, Roth, S, Schröder, R, Tautz, D, Zdobnov, EM, Muzny, D, Attaway, T, Bell, S, Buhay, CJ, Chandrabose, MN, Chavez, D, Clerk-Blankenburg, KP, Cree, A, Dao, M, Davis, C, Chacko, J, Dinh, H, Dugan-Rocha, S, Fowler, G, Garner, TT, Garnes, J, Gnirke, A, Hawes, A, Hernandez, J, Hines, S, Holder, M, Hume, J, Jhangiani, SN, Joshi, V, Khan, ZM, Jackson, L, Kovar, C, Kowis, A, Lee, S, Lewis, LR, Margolis, J, Morgan, M, Nazareth, LV, Nguyen, N, Okwuonu, G, Parker, D, Ruiz, SJ, Santibanez, J, Savard, J, Scherer, SE, Schneider, B, Sodergren, E, Vattahil, S, Villasana, D, White, CS, Wright, R, Park, Y, Lord, J, Oppert, B, Brown, S, Wang, L, Weinstock, G, Liu, Y, Worley, K, Elsik, CG, Reese, JT, Elhaik, E, Landan, G, Graur, D, Arensburger, P, Atkinson, P, Beidler, J, Demuth, JP, Drury, DW, Du, YZ, Fujiwara, H, Maselli, V, Osanai, M, Robertson, HM, Tu, Z, Wang, JJ, Wang, S, Song, H, Zhang, L, Werner, D, Stanke, M, Morgenstern, B, Solovyev, V, Kosarev, P, Brown, G, Chen, HC, Ermolaeva, O, Hlavina, W, Kapustin, Y, Kiryutin, B, Kitts, P, Maglott, D, Pruitt, K, Sapojnikov, V, Souvorov, A, Mackey, AJ, Waterhouse, RM, Wyder, S, Kriventseva, EV, Kadowaki, T, Bork, P, Aranda, M, Bao, R, Beermann, A, Berns, N, Bolognesi, R, Bonneton, F, Bopp, D, Butts, T, Chaumot, A, Denell, RE, Ferrier, DE, Gordon, CM, Jindra, M, Lan, Q, Lattorff, HM, Laudet, V, von Levetsow, C, Liu, Z, Lutz, R, Lynch, JA, da Fonseca, RN, Posnien, N, Reuter, R, Schinko, JB, Schmitt, C, Schoppmeier, M, Shippy, TD, Simonnet, F, Marques-Souza, H, Tomoyasu, Y, Trauner, J, Van der Zee, M, Vervoort, M, Wittkopp, N, Wimmer, EA, Yang, X, Jones, AK, Sattelle, DB, Ebert, PR, Nelson, D, Scott, JG, Muthukrishnan, S, Kramer, KJ, Arakane, Y, Zhu, Q, Hogenkamp, D, Dixit, R, Jiang, H, Zou, Z, Marshall, J, Elpidina, E, Vinokurov, K, Oppert, C, Evans, J, Lu, Z, Zhao, P, Sumathipala, N, Altincicek, B, Vilcinskas, A, Williams, M, Hultmark, D, Hetru, C, Hauser, F, Cazzamali, G, Williamson, M, Li, B, Tanaka, Y, Predel, R, Neupert, S, Schachtner, J, Verleyen, P, Raible, F, Walden, KK, Angeli, S, Forêt, S, Schuetz, S, Maleszka, R, Miller, SC, Grossmann, D
Publikováno v:
Nature 452 (7190): 949-955.
Nature, Vol. 452, No 7190 (2008) pp. 949-955
Nature, Vol. 452, No 7190 (2008) pp. 949-955
Tribolium castaneum is a member of the most species-rich eukaryotic order, a powerful model organism for the study of generalized insect development, and an important pest of stored agricultural products. We describe its genome sequence here. This om
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdfc3bfe27bbc7901b2a0fbcc4f0a201
http://edoc.mdc-berlin.de/13604/
http://edoc.mdc-berlin.de/13604/
Autor:
Mohammad K. Eldomery, Olaug K. Rødningen, Cecilia Poli, Debra Canter, Berit Flatø, Ketil Heimdal, Nicholas L. Rider, Silje F. Jørgensen, Hasibe Artac, Hans Christian Erichsen, Francisco Javier Espinosa Rosales, Ivan K. Chinn, Alison A. Bertuch, Bo Yuan, Jordan S. Orange, Emily M. Mace, Wojciech Wiszniewski, Robert Lyle, Shalini N. Jhangiani, Tobias Gedde-Dahl, Carla M. Davis, Carl E. Allen, I. Celine Hanson, Magnus K. O. Burstedt, Thomas B. Issekutz, Mari Ann Kulseth, Yavuz Bayram, Eric A. Smith, Tram N. Cao, Stephen Jolles, Andrew C. Issekutz, Pubudu S. Samarakoon, Alice Y. Chan, Gozde Yesil, Eva Holmberg, Børre Fevang, Diana K. Bayer, John W. Belmont, Asbjørg Stray-Pedersen, Timothy J. Vece, Magdalena Walkiewicz, James R. Lupski, Ying Sheng, Trine Prescott, Liv T. N. Osnes, Cecilie F. Rustad, Nina Denisse Guerrero-Cursaru, Juan Carlos Aldave Becerra, Victor Wei Zhang, Philip M. Boone, Mohammad S. Ehlayel, Jason W. Caldwell, Tore G. Abrahamsen, José Luis Franco, Harshal Abhyankar, Henrik Hjorth-Hansen, Liliana Bezrodnik, Vegard Skogen, Nicola A.M. Wright, Lisa R. Forbes, Anne Grete Bechensteen, Christine R. Beck, Saul Oswaldo Lugo Reyes, Lee-Jun C. Wong, Shen Gu, Sarah K. Nicholas, Christina E. West, Filiz O. Seeborg, Mehmed M. Atik, Eric Boerwinkle, Luis A. Pedroza, Caterina Cancrini, Hanne Sørmo Sorte, Yaping Yang, Christine M. Eng, Richard A. Gibbs, Lenora M. Noroski, Alessandro Aiuti, Ender Karaca, Torstein Øverland, Claudia Milena Trujillo Vargas, Jordan K. Abbott, Geir E. Tjønnfjord, William T. Shearer, Javier Chinen, Ingunn Dybedal, Tomasz Gambin, Donna M. Muzny, Pål Aukrust, Ingvild Nordøy, María Soledad Caldirola, Jianhong Hu, Zeynep Coban Akdemir
Publikováno v:
The Journal of allergy and clinical immunology, vol 139, iss 1
WOS: 000393996800025
PubMed: 27577878
Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived fr
PubMed: 27577878
Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abf0338cd9012533e4851a811cd28aa
https://escholarship.org/uc/item/8188960d
https://escholarship.org/uc/item/8188960d
Autor:
Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bengtsson JD; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gandhi M; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Lun MY; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Mehaffey MG; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Park K; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Höps W; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany., Benito E; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany., Hasenfeld P; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany., Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany., Mahmoud M; 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., Paulin LF; 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., Hwang JP; 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., 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., Pendleton M; Oxford Nanopore Technologies, New York, NY 10013, USA., Harrington E; Oxford Nanopore Technologies, New York, NY 10013, USA., Juul S; Oxford Nanopore Technologies, New York, NY 10013, USA., Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden; Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden., Sedlazeck FJ; 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 Computer Science, Rice University, Houston TX 77030, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, 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; Jan and Dan Duncan Neurological Research Institute at 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., Carvalho CMB; Pacific Northwest Research Institute, Seattle, WA 98122, USA. Electronic address: ccarvalho@pnri.org.
Publikováno v:
Cell genomics [Cell Genom] 2024 Jul 10; Vol. 4 (7), pp. 100590. Date of Electronic Publication: 2024 Jun 21.
Autor:
Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Fatih JM; 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., Dawood M; 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.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, 77030, USA., Du H; 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., Jones EG; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA., Jhangiani SN; 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., Wehrens XHT; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA.; Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Medicine, Baylor College of Medicine, Houston, TX, 77030, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA., Boerwinkle E; Human Genome Sequencing Center, 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., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Muzny DM; 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., 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., 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, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. zeynep.h.cobanakdemir@uth.tmc.edu.; 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. zeynep.h.cobanakdemir@uth.tmc.edu., Morris SA; Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, 77030, USA. shainem@bcm.edu.
Publikováno v:
Genome medicine [Genome Med] 2024 Apr 03; Vol. 16 (1), pp. 53. Date of Electronic Publication: 2024 Apr 03.
Autor:
Mahmoud M; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Harting J; Pacific Biosciences, Menlo Park, California, USA., Corbitt H; Twist Bioscience, South San Francisco, USA., Chen X; Pacific Biosciences, Menlo Park, California, USA., Jhangiani SN; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Doddapaneni H; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Meng Q; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Han T; Twist Bioscience, South San Francisco, USA., Lambert C; Pacific Biosciences, Menlo Park, California, USA., Zhang S; Pacific Biosciences, Menlo Park, California, USA., Baybayan P; Pacific Biosciences, Menlo Park, California, USA., Henno G; Pacific Biosciences, Menlo Park, California, USA., Shen H; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Hu J; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Han Y; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Riegler C; Twist Bioscience, South San Francisco, USA., Metcalf G; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Henno G; Pacific Biosciences, Menlo Park, California, USA., Chinn IK; Department of Pediatrics, Section of Immunology Allergy and Rheumatology, Center for Human Immunobiology, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA., Eberle MA; Pacific Biosciences, Menlo Park, California, USA., Kingan S; Pacific Biosciences, Menlo Park, California, USA., Farinholt T; Twist Bioscience, South San Francisco, USA., Carvalho CMB; Pacific Northwest Research Institute, Seattle, USA., Gibbs RA; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Kronenberg Z; Pacific Biosciences, Menlo Park, California, USA., Muzny D; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA., Sedlazeck FJ; Baylor College of Medicine, Human Genome Sequencing Center, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Computer Science, Rice University, Houston, Texas, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 18. Date of Electronic Publication: 2024 Mar 18.
Autor:
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.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2024 Feb 28; Vol. 52 (4), pp. e18.
Autor:
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.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., 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 M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Safwat S; Department of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA., Dardas Z; 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., Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Boys Town National Research Hospital, Boys Town, NE, USA., Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA.; The University of Kansas Health System, Westwood, KS, USA., Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., 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, USA., 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, Cranmer Terrace London, London, UK., 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, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 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, 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., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., 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, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Kerby C Oberg; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA., Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., 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., Abdalla E; Department of 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, NY, USA., 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.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; 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., Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., 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, WC1N 3BG, London, UK., 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.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456.; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456.; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545.; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 13. Date of Electronic Publication: 2024 Feb 13.
Autor:
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.
Publikováno v:
PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011005. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).
Autor:
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.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1195-1205. Date of Electronic Publication: 2023 Oct 05.