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- [21] Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic diseaseCELL REPORTS MEDICINE, 2023, 4 (08)Hanssen, Ruth论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Cambridge CB2 0QQ, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England论文数: 引用数: h-index:机构:Joeloo, Maarja论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Inst Mol & Cell Biol, EE-51010 Tartu, Estonia Univ Tartu, Inst Genom, Estonian Genome Ctr, EE-51010 Tartu, Estonia Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandHenning, Elana论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Cambridge CB2 0QQ, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandKeogh, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Cambridge CB2 0QQ, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandBounds, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Cambridge CB2 0QQ, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandSmith, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Cambridge CB2 0QQ, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandFirth, Helen V.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England Wellcome Sanger Inst, Cambridge, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandKutalik, Zoltan论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept Comp Biol, CH-1015 Lausanne, Switzerland Swiss Inst Bioinformat, CH-1015 Lausanne, Switzerland Univ Ctr Primary Care & Publ Hlth, CH-1010 Lausanne, Switzerland Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandFarooqi, I. Sadaf论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Cambridge CB2 0QQ, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England论文数: 引用数: h-index:机构:Lawler, Katherine论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Cambridge CB2 0QQ, England Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandSadler, M. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Wellcome MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England
- [22] Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsyAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (07) : 1722 - 1725Bassuk, Alexander G.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa, Dept Pediat, Iowa City, IA 52242 USAGeraghty, Eileen论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Iowa, Dept Pediat, Iowa City, IA 52242 USAWu, Shu论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa, Dept Pediat, Iowa City, IA 52242 USAMullen, Saul A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia Univ Iowa, Dept Pediat, Iowa City, IA 52242 USABerkovic, Samuel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia Univ Iowa, Dept Pediat, Iowa City, IA 52242 USAScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia Univ Iowa, Dept Pediat, Iowa City, IA 52242 USAMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
- [23] Reciprocal White Matter Alterations Due to 16p11.2 Chromosomal Deletions versus DuplicationsHUMAN BRAIN MAPPING, 2016, 37 (08) : 2833 - 2848Chang, Yi Shin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USAOwen, Julia P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USA Univ Calif San Francisco, Program Bioengn, 1700 4th St, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USAPojman, Nicholas J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USAThieu, Tony论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USABukshpun, Polina论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USAWakahiro, Mari L. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USAMarco, Elysa J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USABerman, Jeffrey I.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Radiol, Wood Bldg,Suite 2115, Philadelphia, PA 19104 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USASpiro, John E.论文数: 0 引用数: 0 h-index: 0机构: Simons Fdn, 160 Fifth Ave,7th Floor, New York, NY 10010 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA Columbia Univ, Med Ctr, Dept Med, New York, NY 10032 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USABuckner, Randy L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Ctr Brain Sci, 52 Oxford St, Cambridge, MA 02138 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USARoberts, Timothy P. L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Radiol, Wood Bldg,Suite 2115, Philadelphia, PA 19104 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USANagarajan, Srikantan S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USA Univ Calif San Francisco, Program Bioengn, 1700 4th St, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USASherr, Elliott H.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USAMukherjee, Pratik论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USA Univ Calif San Francisco, Program Bioengn, 1700 4th St, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Radiol & Biomed Imaging, 185 Berry St, San Francisco, CA 94107 USA
- [24] Rare variants at 16p11.2 are associated with common variable immunodeficiencyJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (06) : 1569 - 1577Maggadottir, S. Melkorka论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USA Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USALi, Jin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAGlessner, Joseph T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USALi, Yun Rose论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAWei, Zhi论文数: 0 引用数: 0 h-index: 0机构: New Jersey Inst Technol, Dept Comp Sci, Newark, NJ 07102 USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAChang, Xiao论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAMentch, Frank D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAThomas, Kelly A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAKim, Cecilia E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAZhao, Yan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAHou, Cuiping论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAWang, Fengxiang论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAJorgensen, Silje F.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Rikshosp, Div Canc Med Surg & Transplantat, Internal Med Res Inst,KG Jebsen Inflammat Res Ctr, N-0450 Oslo, Norway Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAPerez, Elena E.论文数: 0 引用数: 0 h-index: 0机构: Univ S Florida, Dept Pediat, Div Rheumatol Allergy & Immunol, St Petersburg, FL USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USASullivan, Kathleen E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAOrange, Jordan S.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAKarlsen, Tom H.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Rikshosp, Div Canc Med Surg & Transplantat, Internal Med Res Inst,KG Jebsen Inflammat Res Ctr, N-0450 Oslo, Norway Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAChapel, Helen论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Med, Oxford OX1 2JD, England Oxford Radcliffe Hosp, Oxford, England Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USACunningham-Rundles, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Inst Immunol, New York, NY USA Mt Sinai Sch Med, Dept Med, New York, NY USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USAHakonarson, Hakon论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA Univ Penn, Perelman Sch Med Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med Philadelphia, Med Scientist Training Program, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USA
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