Clinical and biobehavioral phenotypic assessments and data harmonization for the RE-JOIN research consortium: Recommendations for common data element selection.

Autor: Cruz-Almeida Y; Pain Research & Intervention Center of Excellence, University of Florida, FL, USA., Mehta B; Hospital for Special Surgery, New York, USA and Weill Cornell Medical College, New York, USA., Haelterman NA; Department of Human and Molecular Genetics, Baylor College of Medicine, TX, USA., Johnson AJ; Pain Research & Intervention Center of Excellence, University of Florida, FL, USA., Heiting C; Hospital for Special Surgery, New York, USA and Weill Cornell Medical College, New York, USA., Ernberg M; Department of Dental Medicine, Karolinska Institutet, Huddinge, Sweden., Orange D; The Rockefeller University, New York, USA., Lotz M; Department of Molecular and Cellular Biology & Department of Molecular Medicine, Scripps Research, CA, USA., Boccanfuso J; Department of Biostatistics, Epidemiology & Informatics, University of Pennsylvania, PA, USA., Smith SB; Department of Anesthesiology, Duke University Medical Center, NC, USA., Pela M; Department of Neurosciences, University of California San Diego, CA, USA., Boline J; Department of Neurosciences, University of California San Diego, CA, USA., Otero M; Hospital for Special Surgery, New York, USA and Weill Cornell Medical College, New York, USA., Allen K; Department of Biomedical Engineering, University of Florida, FL, USA., Perez D; University of Texas Health San Antonio, TX, USA., Donnelly C; Department of Anesthesiology, Duke University Medical Center, NC, USA., Almarza A; Department of Oral and Craniofacial Sciences, University of Pittsburgh, PA, USA., Olmer M; Department of Molecular and Cellular Biology & Department of Molecular Medicine, Scripps Research, CA, USA., Balkhi H; The Rockefeller University, New York, USA., Wagenaar J; Department of Biostatistics, Epidemiology & Informatics, University of Pennsylvania, PA, USA., Martone M; Department of Neurosciences, University of California, CA, USA.

Publikováno v: Neurobiology of pain (Cambridge, Mass.) [Neurobiol Pain] 2024 Aug 22; Vol. 16, pp. 100163. Date of Electronic Publication: 2024 Aug 22 (Print Publication: 2024).

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Autor: Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Deal SL; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA., Andrews J; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Harnish JM; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Bhavana VH; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Graves HK; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Jangam S; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Pediatrics, Division of Hematology/Oncology, BCM, Houston, TX 77030, USA., Liu N; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Bei D; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Chao YH; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Hull B; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Lee PT; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Pan H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Bhadane P; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Huang MC; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Longley CM; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA; TCH, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA., Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA., Haelterman NA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Manivannan SN; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Rossetti LZ; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA., German RJ; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA., Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; TCH, Houston, TX 77030, USA., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Fehr S; Praxis für Humangenetik Tübingen, Tübingen, Germany., Guerrini R; Neuroscience Department, Children's Hospital Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital Meyer-University of Florence, Florence, Italy., England E; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; TCH, Houston, TX 77030, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Lesca G; Department of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Sabatier I; Department of Pediatric Neurology, Lyon University Hospitals, Lyon, France., Chatron N; Department of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris 75013, France., Courtin T; Genetic Department, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris 75013, France., Perrin L; Genetic Department, Robert Debré Hospital, APHP.Nord-Université de Paris, Paris 75019, France., Brugger M; Institute of Human Genetics, Technical University Munich, Munich, Germany., Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstraße 4, 80337 Munich, Germany., Leiz S; Department of Pediatrics and Adolescent Medicine, Hospital Dritter Orden, Munich, Germany., Mau-Them FT; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de Génétique, Innovation en Diagnostic Génomique des Maladies Rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 Rue Paul Gaffarel, BP 77908, 21079 Dijon, France., Delanne J; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France., Sukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia., Trajkova S; Department of Medical Sciences, University of Torino, Turin, Italy., Rosenhahn E; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Keller R; Adult Autism Center, Mental Health Department, Health Unit ASL Città di Torino, Turin, Italy., Pavinato L; Department of Medical Sciences, University of Torino, Turin, Italy; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza, University Hospital, Turin, Italy., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; TCH, Houston, TX 77030, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; TCH, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA. Electronic address: mw147467@bcm.edu., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA. Electronic address: yamamoto@bcm.edu.

Publikováno v: Cell reports [Cell Rep] 2022 Mar 15; Vol. 38 (11), pp. 110517.

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Autor: Tan KL; Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA., Haelterman NA; Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Kwartler CS; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Regalado ES; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Lee PT; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Nagarkar-Jaiswal S; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA., Guo DC; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Duraine L; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA., Wangler MF; Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Lin G; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Milewicz DM; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA., Bellen HJ; Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.

Publikováno v: Developmental cell [Dev Cell] 2018 Apr 23; Vol. 45 (2), pp. 226-244.e8.

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Autor: Yoon WH; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sandoval H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Nagarkar-Jaiswal S; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jaiswal M; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Haelterman NA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA., Putluri N; Department of Molecular and Cellular Biology and Advanced Technology Core, Baylor College of Medicine, Houston, TX 77030, USA., Putluri V; Department of Molecular and Cellular Biology and Advanced Technology Core, Baylor College of Medicine, Houston, TX 77030, USA., Sreekumar A; Department of Molecular and Cellular Biology and Advanced Technology Core, Baylor College of Medicine, Houston, TX 77030, USA., Tos T; Department of Medical Genetics, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara 06080, Turkey., Aksoy A; Department of Child Neurology, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara 06080, Turkey., Donti T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA., Ohno M; Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto 606-8507, Japan, Baylor College of Medicine, Houston, TX 77030, USA., Nishi E; Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto 606-8507, Japan, Baylor College of Medicine, Houston, TX 77030, USA., Hunter J; Department of Pediatric Radiology, Texas Children's Hospital and Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Carmichael J; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA., Shen J; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA., Arboleda VA; Departments of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Nelson SF; Departments of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Karaca E; Department of Molecular and Human Genetics, 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; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA., Bellen HJ; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.

Publikováno v: Neuron [Neuron] 2017 Jan 04; Vol. 93 (1), pp. 115-131. Date of Electronic Publication: 2016 Dec 22.

FlyVar: a database for genetic variation in Drosophila melanogaster.

Autor: Wang F; Shanghai Key Lab of Intelligent Information Processing, School of Computer Science and Technology, Fudan University, Shanghai, China; wangfei@fudan.edu.cn., Jiang L; Human Genome Sequencing Center, Department of Molecular and Human Genetics, and., Chen Y; Shanghai Key Lab of Intelligent Information Processing, School of Computer Science and Technology, Fudan University, Shanghai, China;, Haelterman NA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA;, Bellen HJ; Department of Molecular and Human Genetics, and Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA; Howard Hughes Medical Institute., Chen R; Human Genome Sequencing Center, Department of Molecular and Human Genetics, and wangfei@fudan.edu.cn.

Publikováno v: Database : the journal of biological databases and curation [Database (Oxford)] 2015 Aug 19; Vol. 2015. Date of Electronic Publication: 2015 Aug 19 (Print Publication: 2015).