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- [21] Loss-of-function variants in HIVEP2 are a cause of intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (04) : 556 - 561Srivastava, Siddharth论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USA Johns Hopkins Univ Hosp, Dept Neurol, Baltimore, MD 21287 USA Johns Hopkins Univ Hosp, Dept Pediat, Baltimore, MD 21287 USA Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USASchanze, Ina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USACremer, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAWieland, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAMenzel, Moritz论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USASchubach, Max论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USABiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany German Ctr Neurodegenerat Dis, Hertie Inst Clin Brain Res, Tubingen, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAKreiss, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAEndele, Sabine论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USAZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Zink, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Kennedy Krieger Inst, Dept Neurogenet, 707 North Broadway, Baltimore, MD 21205 USA论文数: 引用数: h-index:机构:
- [22] Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyGENETICS IN MEDICINE, 2021, 23 (12) : 2455 - 2460Calame, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USABakhtiari, Somayeh论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ 85016 USA Univ Arizona, Dept Child Hlth & Program Genet Neurol, Coll Med Phoenix, Phoenix, AZ 85721 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USALogan, Rachel论文数: 0 引用数: 0 h-index: 0机构: Childrens Healthcare Atlanta, Div Neurosci, Atlanta, GA USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USACoban-Akdemir, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr, Sch Publ Hlth, Dept Epidemiol, Ctr Human Genet, Houston, TX USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USADu, Haowei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAMitani, Tadahiro论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAFatih, Jawid M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAHunter, Jill V.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Radiol, Houston, TX 77030 USA Texas Childrens Hosp, EB Singleton Dept Pediat Radiol, Houston, TX USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAHerman, Isabella论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAPehlivan, Davut论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAJhangiani, Shalini N.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAPerson, Richard论文数: 0 引用数: 0 h-index: 0机构: GeneDX, Gaithersburg, MD USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USASchnur, Rhonda E.论文数: 0 引用数: 0 h-index: 0机构: GeneDX, Gaithersburg, MD USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Posey, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAKoh, Sookyong论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska, Childrens Hosp, Dept Pediat, Omaha, NE USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAFirouzabadi, Saghar G.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Res Ctr, Tehran, Iran Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Tafakhori, Abbas论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAEsmkhani, Sahra论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Inst Oncol, Div Canc Genet, Dept Basic Oncol, Istanbul, Turkey Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Zaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Kuwait Univ, Dept Pediat, Fac Med, Safat, Kuwait Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAMarafi, Dana论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo, Egypt Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USADarvish, Hossein论文数: 0 引用数: 0 h-index: 0机构: Golestan Univ Med Sci, Res Ctr, Fac Med, Gorgan, Golestan, Iran Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USAKruer, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ 85016 USA Univ Arizona, Dept Child Hlth & Program Genet Neurol, Coll Med Phoenix, Phoenix, AZ 85721 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA
- [23] Bi-allelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 69 - 70Oh, Rachel Youjin论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaDeshwar, Ashish论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Div Neurol, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaSabha, Nesrin论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaTropak, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Paediat & Biochem, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaHou, Huayun论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaYuki, Kyoko论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaWilson, Michael论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaRump, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaLunsing, Roelineke J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaElserafy, Noha论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Genet, Sydney, NSW, Australia Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaChung, Clara论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Genet, Sydney, NSW, Australia Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaHewson, Stacy论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaKlein-Rodewald, Tanja论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaCalzada-Wack, J.论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaSanz-Moreno, Adrian论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaKraiger, Markus论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaMarschall, Susan论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaFuchs, Helmut论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaGailus-Durner, Valerie论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaMarwaha, Ashish论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canada Alberta Childrens Prov Gen Hosp, Dept Genet, Calgary, AB, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canadade Angelis, Martin Hrabe论文数: 0 引用数: 0 h-index: 0机构: German Mouse Clin, Inst Expt Genet, Neuherberg, Germany TUM Sch Life Sci, Chair Expt Genet, Freising Weihenstephan, Germany German Ctr Diabet Res, Neuherberg, Germany Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaDowling, James论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Neurol, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, CanadaSchulze, Andreas论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Paediat & Biochem, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canada
- [24] De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorderEUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (01) : 55 - 60Shen, Wei论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USAKrautscheid, Patti论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USARutz, Audrey M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USABayrak-Toydemir, Pinar论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USADugan, Sarah L.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA
- [25] Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotypeEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 355 - 356Zanoni, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Schlieren, Switzerland Univ Zurich, Schlieren, SwitzerlandSteindl, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Schlieren, Switzerland Univ Zurich, Schlieren, Switzerland论文数: 引用数: h-index:机构:Sticht, H.论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Erlangen, Germany Univ Zurich, Schlieren, SwitzerlandJoset, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Schlieren, Switzerland Univ Zurich, Schlieren, SwitzerlandBaar, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Schlieren, Switzerland Univ Zurich, Schlieren, Switzerlandvan Ravenswaaij-Arts, C. M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Groningen, Netherlands Univ Zurich, Schlieren, SwitzerlandShinawi, M.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, St Louis, MO USA Univ Zurich, Schlieren, SwitzerlandMaystadt, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Gosselies, Belgium Univ Zurich, Schlieren, SwitzerlandBelnap, N.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Phoenix, AZ USA Univ Zurich, Schlieren, SwitzerlandBenoit, V.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Gosselies, Belgium Univ Zurich, Schlieren, Switzerlandde Vries, B. B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Univ Zurich, Schlieren, SwitzerlandLacombe, D.论文数: 0 引用数: 0 h-index: 0机构: Hop Pellegrin CHU, Bordeaux, France Univ Zurich, Schlieren, SwitzerlandLarson, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Anschutz Med Campus, Denver, CO USA Univ Zurich, Schlieren, SwitzerlandPfundt, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Schlieren, SwitzerlandRamsey, K.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Phoenix, AZ USA Univ Zurich, Schlieren, SwitzerlandBlok, L. Snijders论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Univ Zurich, Schlieren, SwitzerlandWheeler, P. G.论文数: 0 引用数: 0 h-index: 0机构: Arnold Palmer Hosp, Orlando Hlth, Orlando, FL USA Univ Zurich, Schlieren, SwitzerlandWevers, M. R.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Univ Zurich, Schlieren, Switzerland论文数: 引用数: h-index:机构:Rauch, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Schlieren, Switzerland Univ Zurich, Schlieren, Switzerland
- [26] Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorderFRONTIERS IN GENETICS, 2024, 14Afsar, Tayyaba论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia King Salman Ctr Disabil Res, Riyadh, Saudi Arabia King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaFu, Hongxia论文数: 0 引用数: 0 h-index: 0机构: Dongguan Songshan Lake Cent Hosp, Dept Neurol, Dongguan, Peoples R China King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaKhan, Hammal论文数: 0 引用数: 0 h-index: 0机构: COMSATS Univ Islamabad, Dept Biosci, Islamabad, Pakistan King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaAli, Zain论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaZehri, Zamrud论文数: 0 引用数: 0 h-index: 0机构: Civil Hosp, Dept Gynecol, Quetta, Pakistan King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia论文数: 引用数: h-index:机构:Abbas, Safdar论文数: 0 引用数: 0 h-index: 0机构: Dartmouth Coll, Dept Biol Sci, Hanover, NH USA King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaMahmood, Arif论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Med Genet, Changsha, Peoples R China King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaAlam, Qamre论文数: 0 引用数: 0 h-index: 0机构: ExpressMed Diagnost & Res, Mol Genom & Precis Dept, Zinj, Bahrain King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi ArabiaHu, Junjian论文数: 0 引用数: 0 h-index: 0机构: Dongguan Songshan Lake Cent Hosp, Dept Cent Lab, Dongguan, Peoples R China King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia论文数: 引用数: h-index:机构:Umair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: King Salman Ctr Disabil Res, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, KAIMRC, Med Genom Res Dept, Minist Natl Guard Hlth Affairs MNGH, Riyadh, Saudi Arabia King Saud Univ, Coll Appl Med Sci, Dept Community Hlth Sci, Riyadh, Saudi Arabia
- [27] Monoallelic loss-of-function THPO variants cause heritable thrombocytopeniaBLOOD ADVANCES, 2020, 4 (05) : 920 - 924Cornish, Naomi论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, England Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, EnglandAungraheeta, M. Riyaad论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Fac Life Sci, Bristol, Avon, England Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, EnglandFitzGibbon, Lucy论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Fac Life Sci, Bristol, Avon, England Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, EnglandBurley, Kate论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Fac Life Sci, Bristol, Avon, England Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Greene, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge, England Cambridge Inst Publ Hlth, MRC, Biostat Unit, Cambridge, England Cambridge Univ Hosp, NIHR BioResource Rare Dis, Cambridge, England Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, England论文数: 引用数: h-index:机构:Westbury, Sarah K.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Fac Life Sci, Bristol, Avon, England Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, England论文数: 引用数: h-index:机构:Mumford, Andrew D.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Fac Life Sci, Bristol, Avon, England Univ Bristol, Bristol Med Sch, Fac Life Sci, Bristol, Avon, England
- [28] MGA loss-of-function variants cause premature ovarian insufficiencyJOURNAL OF CLINICAL INVESTIGATION, 2024, 134 (22):Tang, Shuyan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaGuo, Ting论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, State Key Lab Reprod Med & Offspring Hlth, Jinan, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaSong, Chengcheng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaWang, Lingbo论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R China Fudan Univ, Inst Metab & Integrat Biol, Shanghai Key Lab Metab Remodeling & Hlth, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaZhang, Jun论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Nanfang Hosp, Ctr Reprod Med, Dept Gynecol & Obstet, Guangzhou, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaRajkovic, Aleksandar论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol Obstet Gynecol & Reprod Sci, San Francisco, CA USA Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaLin, Xiaoqi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaChen, Shiling论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Nanfang Hosp, Ctr Reprod Med, Dept Gynecol & Obstet, Guangzhou, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaLiu, Yujun论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhangjiang Fudan Int Innovat Ctr, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaTian, Weidong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Sch Life Sci, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaWu, Bangguo论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Metab & Integrat Biol, Shanghai Key Lab Metab Remodeling & Hlth, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaWang, Shixuan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Obstet & Gynecol, Wuhan, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaWang, Wenwen论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Obstet & Gynecol, Wuhan, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaLai, Yunhui论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Nanfang Hosp, Ctr Reprod Med, Dept Gynecol & Obstet, Guangzhou, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaWang, Ao论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Nanfang Hosp, Ctr Reprod Med, Dept Gynecol & Obstet, Guangzhou, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaXu, Shuhua论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhangjiang Fudan Int Innovat Ctr, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Sch Life Sci, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaJin, Li论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhangjiang Fudan Int Innovat Ctr, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Sch Life Sci, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaKe, Hanni论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R China Shandong Univ, State Key Lab Reprod Med & Offspring Hlth, Jinan, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaZhao, Shidou论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, State Key Lab Reprod Med & Offspring Hlth, Jinan, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaLi, Yan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Obstet & Gynecol, Wuhan, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaQin, Yingying论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, State Key Lab Reprod Med & Offspring Hlth, Jinan, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaZhang, Feng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R China Fudan Univ, Zhangjiang Fudan Int Innovat Ctr, Human Phenome Inst, Shanghai, Peoples R China Int Peace Matern & Child Hlth Hosp, China Welf Inst, Shanghai Key Lab Embryo Original Dis, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R ChinaChen, Zi-Jiang论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, State Key Lab Reprod Med & Offspring Hlth, Jinan, Peoples R China Shandong First Med Univ, Shandong Prov Hosp, Shandong Key Lab Reprod Med, Jinan, Peoples R China Chinese Acad Med Sci 2021RU001, Res Unit Gametogenesis & Hlth ART Offspring, Jinan, Peoples R China Shanghai Key Lab Assisted Reprod & Reprod Genet, Shanghai, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Inst Med Genet & Genom, State Key Lab Genet Engn, Shanghai 200011, Peoples R China
- [29] The Frank Majewski Prize is awarded for the work Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthMEDIZINISCHE GENETIK, 2023, 35 (04) : 325 - 326Harms, Frederike L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyParthasarathy, Padmini论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dunedin Sch Med, Dept Womens & Childrens Hlth, Dunedin, New Zealand Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyZorndt, Dennis论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyAlawi, Malik论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Bioinformat Core, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyFuchs, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyHalliday, Benjamin J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyMcKeown, Colina论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Randwick, NSW, Australia Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanySampaio, Hugo论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Dept Women & Childrens Hlth, Randwick Campus, Randwick, NSW, Australia Sydney Childrens Hosp, Randwick, NSW, Australia Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyRadhakrishnan, Natasha论文数: 0 引用数: 0 h-index: 0机构: Amrita Inst Med Sci & Res Ctr, Dept Ophthalmol, Cochin, Kerala, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyRadhakrishnan, Suresh K.论文数: 0 引用数: 0 h-index: 0机构: Amrita Inst Med Sci & Res Ctr, Dept Neurol, Cochin, Kerala, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyGorce, Magali论文数: 0 引用数: 0 h-index: 0机构: Children Univ Hosp, Dept Metab Dis, Toulouse, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyNavet, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Dept Biochem & Genet, Angers, France CNRS, MitoLab, UMR 6015, INSERM,U1083,Inst MitoVasc, Angers, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyZiegler, Alban论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Angers, Dept Biochem & Genet, Angers, France CNRS, MitoLab, UMR 6015, INSERM,U1083,Inst MitoVasc, Angers, France Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanySachdev, Rani论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyRobertson, Stephen P.论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dunedin Sch Med, Dept Womens & Childrens Hlth, Dunedin, New Zealand Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyNampoothiri, Sheela论文数: 0 引用数: 0 h-index: 0机构: Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin, Kerala, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
- [30] Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al.GENETICS IN MEDICINE, 2021, 23 (02) : 421 - 422Capra, Anna Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Dept Biomed Dent Morphol & Funct Imaging Sci, Messina, Italy Univ Messina, Dept Biomed Dent Morphol & Funct Imaging Sci, Messina, ItalyAgolini, Emanuele论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Rome, Italy Univ Messina, Dept Biomed Dent Morphol & Funct Imaging Sci, Messina, ItalyLa Rosa, Maria Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Dept Biomed Dent Morphol & Funct Imaging Sci, Messina, Italy Univ Messina, Dept Biomed Dent Morphol & Funct Imaging Sci, Messina, ItalyNovelli, Antonio论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Rome, Italy Univ Messina, Dept Biomed Dent Morphol & Funct Imaging Sci, Messina, Italy论文数: 引用数: h-index:机构: