Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease

Autor: Georges Nemer, ElHajj, Kassem Barada, Boustany Rm, Julnar Usta, Nadim Cortas, Johnny J. Touma

Publikováno v: Clinical genetics. 72(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e05f6c2b49b2b2f68016b738c71afb
https://pubmed.ncbi.nlm.nih.gov/17718866

Cerliponase alfa and neuronal ceroid lipofuscinosis type 2: long-term outcomes and lessons for future research.

Autor: Boustany RM; Department of Biochemistry and Molecular Genetics, Neurogenetics Program, and Special Kids Clinic, American University of Beirut Medical Center, Beirut, Lebanon; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: rb50@aub.edu.lb.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2024 Jan; Vol. 23 (1), pp. 5-7.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Autor: Tenney AP; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA., Di Gioia SA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chan WM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Garnai SJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard-MIT Health Sciences and Technology, Harvard Medical School, Boston, MA, USA., Barry BJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Ray T; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kosicki M; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robson CD; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhang Z; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Collins TE; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Gelber A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Fujiwara Y; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Varshney A; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Lek M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Warburton PE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Center for Advanced Genomics Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Van Ryzin C; Metabolic Medicine Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lehky TJ; EMG Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Zalewski C; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., King KA; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., Brewer CC; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, MD, USA., Snow J; Office of the Clinical Director, National Institute of Mental Health, NIH, Bethesda, MD, USA., Facio FM; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Invitae Corporation, San Francisco, CA, USA., Narisu N; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bonnycastle LL; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Swift A; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Chines PS; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bell JL; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Mohan S; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Staffieri SE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, and University of Melbourne, Melbourne, Victoria, Australia.; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia., Elder JE; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia., Demer JL; Stein Eye Institute and Departments of Ophthalmology, Neurology, and Bioengineering, University of California, Los Angeles, Los Angeles, CA, USA., Torres A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Medical Center, Boston University Aram V. Chobanian & Edward Avedisian School of Medicine, Boston, MA, USA., Rachid E; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Al-Haddad C; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Boustany RM; Pediatrics & Adolescent Medicine/Biochemistry & Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon., Mackey DA; Lions Eye Institute, University of Western Australia, Perth, Australia., Brady AF; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Fenollar-Cortés M; Unidad de Genética Clínica, Instituto de Medicina del Laboratorio. IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Fradin M; Service de Génétique Clinique, CHU Rennes, Centre Labellisé Anomalies du Développement, Rennes, France., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands., Padberg GW; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands., Raskin S; Centro de Aconselhamento e Laboratório Genetika, Curitiba, Paraná, Brazil., Sato MT; Department of Ophthalmology & Otorhinolaryngology, Federal University of Paraná, Curitiba, Paraná, Brazil., Orkin SH; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Parker SCJ; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Hadlock TA; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Collins FS; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Pennacchio LA; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Engle EC; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. elizabeth.engle@childrens.harvard.edu.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.

Publikováno v: Nature genetics [Nat Genet] 2023 Jul; Vol. 55 (7), pp. 1149-1163. Date of Electronic Publication: 2023 Jun 29.

LINE-1 methylation mediates the inverse association between body mass index and breast cancer risk: A pilot study in the Lebanese population.

Autor: Awada Z; Department of Pharmacology and Toxicology, American University of Beirut Faculty of Medicine, Beirut, Lebanon; International Agency for Research on Cancer, Lyon, France., Bouaoun L; International Agency for Research on Cancer, Lyon, France., Nasr R; Department of Anatomy, Cell Biology and Physiological Sciences, American University of Beirut Faculty of Medicine, Beirut, Lebanon., Tfayli A; Division of Hematology and Oncology, Department of Internal Medicine, American University of Beirut Faculty of Medicine, Beirut, Lebanon., Cuenin C; International Agency for Research on Cancer, Lyon, France., Akika R; Department of Pharmacology and Toxicology, American University of Beirut Faculty of Medicine, Beirut, Lebanon., Boustany RM; Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine, Beirut, Lebanon; Department of Neurology, American University of Beirut Faculty of Medicine, Beirut, Lebanon., Makoukji J; Department of Biochemistry and Molecular Genetics, American University of Beirut Faculty of Medicine, Beirut, Lebanon., Tamim H; Department of Internal Medicine and Clinical Research Institute, American University of Beirut Faculty of Medicine, Beirut, Lebanon., Zgheib NK; Department of Pharmacology and Toxicology, American University of Beirut Faculty of Medicine, Beirut, Lebanon. Electronic address: nk16@aub.edu.lb., Ghantous A; International Agency for Research on Cancer, Lyon, France. Electronic address: GhantousA@iarc.fr.

Publikováno v: Environmental research [Environ Res] 2021 Jun; Vol. 197, pp. 111094. Date of Electronic Publication: 2021 Apr 09.

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Autor: Al-Haddad C; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Boustany RM; Department of Pediatrics and Adolescent Medicine, Pediatric Neurology Division, American University of Beirut Medical Center, Beirut, Lebanon., Rachid E; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Ismail K; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Barry B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Chan WM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Engle E; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2021 Apr; Vol. 42 (2), pp. 195-199. Date of Electronic Publication: 2020 Nov 29.