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- [41] De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomaliesGENETICS IN MEDICINE, 2025, 27 (04)Weisz-Hubshman, Monika
Weisz-Hubshman, Monika论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USABurrage, Lindsay C.Burrage, Lindsay C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAV. Jangam, SharayuV. Jangam, Sharayu论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USARosenfeld, Jill A.Rosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAvon Hardenberg, Sandravon Hardenberg, Sandra论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, Hannover, Germany Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USABergmann, AnkeBergmann, Anke论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, Hannover, Germany Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USARichter, Manuela FriederikeRichter, Manuela Friederike论文数: 0 引用数: 0 h-index: 0机构: AUF DER BULT Childrens & Youth Hosp, Dept Neonatol, Hannover, Germany Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USARydzanicz, Malgorzata论文数: 引用数: h-index:机构:Ploski, RafalPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAStembalska, AgnieszkaStembalska, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Dept & Inst Genet, Dept Genet, Wroclaw, Poland Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAChung, Wendy K.Chung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Pediat, Boston, MA USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAHernan, Rebecca R.Hernan, Rebecca R.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, New York, NY USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USALim, Foong Y.Lim, Foong Y.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USABrunet, TheresaBrunet, Theresa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Ludwig Maximilians Univ Munchen, Dr von Hauner Childrens Hosp, LMU Hosp, Dept Pediat Neurol & Dev Med, Munich, Germany Ludwig Maximilians Univ Munchen, Dr von Hauner Childrens Hosp, LMU Hosp, LMU Ctr Children Med Complex, Munich, Germany Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USASyrbe, SteffenSyrbe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Med Fac, Ctr Pediat & Adolescent Med, Dept 1,Div Pediat Epileptol, Heidelberg, Germany Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAKeren, BorisKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Univ Hop Pitie Salpetriere, AP HP, Dept Genet, Paris, France Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAHeide, SolveigHeide, Solveig论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAMurdock, David R.Murdock, David R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USADai, HongzhengDai, Hongzheng论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAXia, FanXia, Fan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAKetkar, ShamikaKetkar, Shamika论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USADawson, BrianDawson, Brian论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USANarayanan, VinodhNarayanan, Vinodh论文数: 0 引用数: 0 h-index: 0机构: Arizona Pediat Neurol & Neurogenet Associates, Phoenix, AZ USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAGraves, Hillary K.Graves, Hillary K.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAWangler, Michael F.Wangler, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USABacino, CarlosBacino, Carlos论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USALee, BrendanLee, Brendan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA - [42] De novo variants in CNOT3 cause a variable neurodevelopmental disorderEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (11) : 1677 - 1682Martin, R.Martin, R.论文数: 0 引用数: 0 h-index: 0机构: Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandSplitt, M.Splitt, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandGenevieve, D.Genevieve, D.论文数: 0 引用数: 0 h-index: 0机构: Montpellier Univ Hosp, Med Genet Dept, Rare Dis & Personalized Med, Montpellier, France Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandAten, E.Aten, E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandCollins, A.Collins, A.论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet, Southampton, Hants, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, Englandde Bie, C., Ide Bie, C., I论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Genet Dept, Div Biomed Genet, Utrecht, Netherlands Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandFaivre, L.Faivre, L.论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants, Ctr Genet, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Dijon, France Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandFoulds, N.Foulds, N.论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet, Southampton, Hants, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandGiltay, J.Giltay, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Genet Dept, Div Biomed Genet, Utrecht, Netherlands Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandIbitoye, R.Ibitoye, R.论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet, Southampton, Hants, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandJoss, S.Joss, S.论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Clin Genet Serv, Glasgow, Lanark, Scotland Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandKennedy, J.Kennedy, J.论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Bristol Reg Genet Serv, Bristol, Avon, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandKerr, B.Kerr, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med,St Marys Hosp,Sch Biol S, Manchester Acad Hlth Sci Ctr,Div Evolut & Genom S, Manchester, Lancs, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandKivuva, E.Kivuva, E.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter Hosp, Peninsula Clin Genet, Exeter, Devon, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandKoopmans, M.Koopmans, M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandNewbury-Ecob, R.Newbury-Ecob, R.论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Bristol Reg Genet Serv, Bristol, Avon, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandJean-Marcais, N.Jean-Marcais, N.论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants, Ctr Genet, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Dijon, France Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandPeeters, E. A. J.Peeters, E. A. J.论文数: 0 引用数: 0 h-index: 0机构: HAGA Juliana Childrens Hosp, Dept Child Neurol, The Hague, Netherlands Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandSmithson, S.Smithson, S.论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Bristol Reg Genet Serv, Bristol, Avon, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandTomkins, S.Tomkins, S.论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Bristol Reg Genet Serv, Bristol, Avon, England Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandTranmauthem, F.Tranmauthem, F.论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants, Ctr Genet, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Dijon, France Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, EnglandPiton, A.Piton, A.论文数: 0 引用数: 0 h-index: 0机构: Lab Diagnost Genete HUS, Strasbourg, France Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, Englandvan Haeringen, A.van Haeringen, A.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England
- [43] De novo variants in DENND5B cause a neurodevelopmental disorderAMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (03) : 529 - 543Scala, MarcelloScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyTomati, ValeriaTomati, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyFerla, MatteoFerla, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Oxford Prot Informat Grp, Dept Stat, Oxford, England Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyLena, MariateresaLena, Mariateresa论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyCohen, Julie S.Cohen, Julie S.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyFatemi, AliFatemi, Ali论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBrokamp, EllyBrokamp, Elly论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ Sch Med, Dept Pediat, Nashville, TN USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBican, AnnaBican, Anna论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ Sch Med, Dept Pediat, Nashville, TN USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyPhillips III, John A.Phillips III, John A.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ Sch Med, Dept Pediat, Nashville, TN USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyKoziura, Mary E.Koziura, Mary E.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ Sch Med, Dept Pediat, Nashville, TN USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyNicouleau, MichaelNicouleau, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Dev Brain Disorders Lab, INSERM,UMR 1163, F-75015 Paris, France Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyRio, Marlene论文数: 引用数: h-index:机构:Siquier, KarineSiquier, Karine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Imagine Inst, Dev Brain Disorders Lab, INSERM,UMR 1163, F-75015 Paris, France Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBoddaert, NathalieBoddaert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, INSERM, Dept Radiol Pediat, UMR 1163, Paris, France Hop Necker Enfants Malad, AP HP, INSERM U1000, Paris, France Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyMusante, IlariaMusante, Ilaria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyTamburro, SerenaTamburro, Serena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBaldassari, SimonaBaldassari, Simona论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyIacomino, MicheleIacomino, Michele论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyScudieri, PaoloScudieri, Paolo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyRosenfeld, Jill A.Rosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Genet Labs, Houston, TX USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBellus, GaryBellus, Gary论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Ctr, Clin Genet, Danville, PA 17822 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyReed, SaraReed, Sara论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Ctr, Clin Genet, Danville, PA 17822 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyAl Saif, HindAl Saif, Hind论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Sch Med, Dept Human & Mol Genet, Div Clin Genet, Richmond, VA USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyRusso, Rossana SanchezRusso, Rossana Sanchez论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyWalsh, Matthew B.Walsh, Matthew B.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyCantagrel, Vincent论文数: 引用数: h-index:机构:Crunk, AmyCrunk, Amy论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyGustincich, StefanoGustincich, Stefano论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyRuggiero, Sarah M.Ruggiero, Sarah M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat ENGIN, Philadelphia, PA USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyFitzgerald, Mark P.Fitzgerald, Mark P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat ENGIN, Philadelphia, PA USA Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyHelbig, IngoHelbig, Ingo论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat ENGIN, Philadelphia, PA USA Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat DBHi, Philadelphia, PA 19104 USA Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyStriano, PasqualeStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalySeverino, MariasavinaSeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalySalpietro, VincenzoSalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyPedemonte, NicolettaPedemonte, Nicoletta论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyZara, FedericoZara, Federico论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
- [44] A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 128 - 137Chao, Hsiao-TuanChao, Hsiao-Tuan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USADavids, MariskaDavids, Mariska论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USABurke, ElizabethBurke, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAPappas, John G.Pappas, John G.论文数: 0 引用数: 0 h-index: 0机构: NYU, Dept Pediat, Langone Med Ctr, New York, NY 10016 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USARosenfeld, Jill A.Rosenfeld, Jill A.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, Sect Child Neurol, Houston, TX 77030 USAMcCarty, Alexandra J.McCarty, Alexandra J.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USADavis, TaylorDavis, Taylor论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAWolfe, LynneWolfe, Lynne论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAToro, CamiloToro, Camilo论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USATifft, CynthiaTifft, Cynthia论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAXia, FanXia, Fan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 Genet Labs, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAStong, NicholasStong, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAJohnson, Travis K.Johnson, Travis K.论文数: 0 引用数: 0 h-index: 0机构: Monash Univ, Sch Biol Sci, Melbourne, Vic 3800, Australia Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAWarr, Coral G.Warr, Coral G.论文数: 0 引用数: 0 h-index: 0机构: Monash Univ, Sch Biol Sci, Melbourne, Vic 3800, Australia Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAYamamoto, ShinyaYamamoto, Shinya论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAAdams, David R.Adams, David R.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAMarkello, Thomas C.Markello, Thomas C.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAGahl, William A.Gahl, William A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Undiagnosed Dis Program, NIH Common Fund, Off Director,NIH, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USABellen, Hugo J.Bellen, Hugo J.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USAWangler, Michael F.Wangler, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll 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- [45] Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderBRAIN, 2025,Seaby, Eleanor G.Seaby, Eleanor G.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, England Broad Inst MIT & Harvard, Translat Genom Grp, Cambridge, MA 02142 USA Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandGodwin, AnnieGodwin, Annie论文数: 0 引用数: 0 h-index: 0机构: Univ Portsmouth, European Xenopus Resource Ctr, Sch Environm & Life Sci, Portsmouth PO1 2DT, England Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandMeyer-Dilhet, GeraldineMeyer-Dilhet, Geraldine论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Physiopathol & Genet Neurone & Muscle, CNRS UMR5261, Inst NeuroMyoGene,INSERM U1315, F-69008 Lyon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandClerc, ValentineClerc, Valentine论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Lab Biol & Modelisat Cellule, Ecole Normale Super Lyon, CNRS UMR 5239,INSERM U1210, F-69007 Lyon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandGrand, XavierGrand, Xavier论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Lab Biol & Modelisat Cellule, Ecole Normale Super Lyon, CNRS UMR 5239,INSERM U1210, F-69007 Lyon, France Univ Claude Bernard Lyon 1, Ctr Rech Cancerol Lyon CRCL, INSERM U1052, CNRS UMR5286, F-69008 Lyon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandFletcher, TiaFletcher, Tia论文数: 0 引用数: 0 h-index: 0机构: Univ Portsmouth, European Xenopus Resource Ctr, Sch Environm & Life Sci, Portsmouth PO1 2DT, England Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandMonteiro, LaloeMonteiro, Laloe论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Physiopathol & Genet Neurone & Muscle, CNRS UMR5261, Inst NeuroMyoGene,INSERM U1315, F-69008 Lyon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandKerkhofs, MartijnKerkhofs, Martijn论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Physiopathol & Genet Neurone & Muscle, CNRS UMR5261, Inst NeuroMyoGene,INSERM U1315, F-69008 Lyon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandCarelli, ValerioCarelli, Valerio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, I-40139 Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, I-40138 Bologna, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandPalombo, FlaviaPalombo, Flavia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, I-40139 Bologna, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandSeri, Marco论文数: 引用数: h-index:机构:Olivucci, GiuliaOlivucci, Giulia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Azienda Osped Univ Bologna, I-40138 Bologna, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandGrippa, MinaGrippa, Mina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Azienda Osped Univ Bologna, I-40138 Bologna, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandCiaccio, ClaudiaCiaccio, Claudia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, I-20133 Milan, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandD'Arrigo, StefanoD'Arrigo, Stefano论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, I-20133 Milan, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandIascone, MariaIascone, Maria论文数: 0 引用数: 0 h-index: 0机构: Osped Papa Giovanni XXIII, Lab Genet Med, I-24127 Bergamo, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandBermudez, MarionBermudez, Marion论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Univ Hosp Carl Gustav Carus, D-01307 Dresden, Germany Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandFischer, JanFischer, Jan论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Univ Hosp Carl Gustav Carus, D-01307 Dresden, Germany Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandDi Donato, Nataliya论文数: 引用数: h-index:机构:Goesswein, SophieGoesswein, Sophie论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Univ Hosp Carl Gustav Carus, D-01307 Dresden, Germany Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandLeung, Marco L.Leung, Marco L.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandKoboldt, Daniel C.Koboldt, Daniel C.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandMyers, CortlandtMyers, Cortlandt论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat & Clin Genet, Columbus, OH 43210 USA Ohio State Univ, Columbus, OH 43210 USA Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandArnadottir, Gudny AnnaArnadottir, Gudny Anna论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, IS-102 Reykjavik, Iceland Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandStefansson, KariStefansson, Kari论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, IS-102 Reykjavik, Iceland Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandSulem, PatrickSulem, Patrick论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, IS-102 Reykjavik, Iceland Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandGoldberg, Ethan M.Goldberg, Ethan M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Neurol, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandBruel, Ange-LineBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, F-21000 Dijon, France Univ Bourgogne, INSERM UMR1231 GAD, F-21000 Dijon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandTran-Mau-Them, FredericTran-Mau-Them, Frederic论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, F-21000 Dijon, France Univ Bourgogne, INSERM UMR1231 GAD, F-21000 Dijon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandWillems, MarjolaineWillems, Marjolaine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Montpellier, Med Genet Dept, F-34295 Montpellier, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandBjornsson, Hans TomasBjornsson, Hans Tomas论文数: 0 引用数: 0 h-index: 0机构: Landspitali Hosp, Dept Genet & Mol Med, IS-105 Reykjavik, Iceland Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandHognason, Hakon BjornHognason, Hakon Bjorn论文数: 0 引用数: 0 h-index: 0机构: Landspitali Hosp, Dept Genet & Mol Med, IS-105 Reykjavik, Iceland Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandThorolfsdottir, Eirny ThollThorolfsdottir, Eirny Tholl论文数: 0 引用数: 0 h-index: 0机构: Landspitali Hosp, Dept Genet & Mol Med, IS-105 Reykjavik, Iceland Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandAgolini, EmanueleAgolini, Emanuele论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, Lab Med Genet, IRCCS, I-00146 Rome, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandNovelli, AntonioNovelli, Antonio论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, Lab Med Genet, IRCCS, I-00146 Rome, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandZampino, GiuseppeZampino, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Dept Woman & Child Hlth & Publ Hlth, I-00168 Rome, Italy Univ Cattolica S Cuore, Med & Surg Sch, I-00168 Rome, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandOnesimo, RobertaOnesimo, Roberta论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Rare Dis Unit, I-00168 Rome, Italy Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandLachlan, KatherineLachlan, Katherine论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, England Univ Hosp Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton SO16 5YA, England Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandBaralle, DianaBaralle, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, England Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandRehm, Heidi L.Rehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Translat Genom Grp, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandO'Donnell-Luria, AnneO'Donnell-Luria, Anne论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Translat Genom Grp, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandCourchet, JulienCourchet, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandGuille, MattGuille, Matt论文数: 0 引用数: 0 h-index: 0机构: Univ Portsmouth, European Xenopus Resource Ctr, Sch Environm & Life Sci, Portsmouth PO1 2DT, England Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandBourgeois, Cyril F.Bourgeois, Cyril F.论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Lab Biol & Modelisat Cellule, Ecole Normale Super Lyon, CNRS UMR 5239,INSERM U1210, F-69007 Lyon, France Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, EnglandEnnis, SarahEnnis, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, England Univ Southampton, Fac Med, Human Genet & Genom Med, Southampton SO16 6YD, England
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Switzerland Washington Univ, Dept Pediat, St Louis, MO 63110 USAReymond, Alexandre论文数: 引用数: h-index:机构:Cappuccio, GerardaCappuccio, Gerarda论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med, Sect Pediat, I-80138 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80078 Pozzuoli, Italy Washington Univ, Dept Pediat, St Louis, MO 63110 USABurnetti-Pierri, NicolaBurnetti-Pierri, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med, Sect Pediat, I-80138 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80078 Pozzuoli, Italy Washington Univ, Dept Pediat, St Louis, MO 63110 USATartaglia, MarcoTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00165 Rome, Italy Washington Univ, Dept Pediat, St Louis, MO 63110 USANiceta, MarcelloNiceta, Marcello论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00165 Rome, Italy Washington Univ, Dept Pediat, St Louis, MO 63110 USALeoni, ChiaraLeoni, Chiara论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ Gemelli IRCCS, Ctr Rare Dis & Birth Defects, Dept Woman & Child Hlth & Publ Hlth, I-00168 Rome, Italy Washington Univ, Dept Pediat, St Louis, MO 63110 USAZampino, GiuseppeZampino, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ Gemelli IRCCS, Ctr Rare Dis & Birth Defects, Dept Woman & Child Hlth & Publ Hlth, I-00168 Rome, Italy Washington Univ, Dept Pediat, St Louis, MO 63110 USAAshley-Koch, AllisonAshley-Koch, Allison论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Duke Mol Physiol Inst, Dept Med, Durham, NC 27708 USA Washington Univ, Dept Pediat, St Louis, MO 63110 USAUrbizu, AintzaneUrbizu, Aintzane论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Duke Mol Physiol Inst, Dept Med, Durham, NC 27708 USA Washington Univ, Dept Pediat, St Louis, MO 63110 USAGarrett, Melanie E.Garrett, Melanie E.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Duke Mol Physiol Inst, Dept Med, Durham, NC 27708 USA Washington Univ, Dept Pediat, St Louis, MO 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引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Div Genet Med, Nashville, TN 37232 USA Vanderbilt Univ, Med Scientist Training Program, Sch Med, Nashville, TN 37232 USA Washington Univ, Dept Pediat, St Louis, MO 63110 USABrockmeyer, DouglasBrockmeyer, Douglas论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Primary Childrens Hosp, Dept Neurol Surg, Salt Lake City, UT 84113 USA Washington Univ, Dept Pediat, St Louis, MO 63110 USALimbrick, David D.Limbrick, David D.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurosurg, St Louis, MO 63110 USA Washington Univ, Dept Pediat, St Louis, MO 63110 USAGurnett, Christina A.Gurnett, Christina A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Pediat, St Louis, MO 63110 USA Washington Univ, Dept Orthopaed Surg, St Louis, MO 63110 USA Washington Univ, Dept Neurol, St Louis, MO 63110 USA Washington Univ, Dept Pediat, St Louis, MO 63110 USAHaller, Gabe论文数: 引用数: h-index:机构:
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T.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Dept Pediat, Div Cardiol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Cardiovasc Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABelmont, John W.Belmont, John W.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Dept Pediat, Div Cardiol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKim, Jeffrey J.Kim, Jeffrey J.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Dept Pediat, Div Cardiol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMiyake, Christina Y.Miyake, Christina Y.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Dept Pediat, Div Cardiol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALupski, James R.Lupski, James R.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, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALalani, Seema R.Lalani, Seema R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [50] Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2022, 109 (04) : 750 - 758Tessadori, Federico论文数: 引用数: h-index:机构:Duran, KarenDuran, Karen论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Ctr Mol Med, Dept Genet, NL-3584 Utrecht, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsKnapp, KarenKnapp, Karen论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dept Biochem, Dunedin 9016, New Zealand Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsFellner, MatthiasFellner, Matthias论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dept Biochem, Dunedin 9016, New Zealand Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsSmithson, SarahSmithson, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Reg Genet Serv, Bristol BS2 8EG, Avon, England Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsMeireles, Ana BelezaMeireles, Ana Beleza论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston NHS Fdn Trust, Bristol Reg Genet Serv, Bristol BS2 8EG, Avon, England Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsElting, Mariet W.Elting, Mariet W.论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, Afdeling Klin Genet, NL-1081 Amsterdam, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsWaisfisz, QuintenWaisfisz, Quinten论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, Afdeling Klin Genet, NL-1081 Amsterdam, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsO'Donnell-Luria, AnneO'Donnell-Luria, Anne论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsNowak, CatherineNowak, Catherine论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsDouglas, JessicaDouglas, Jessica论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsRonan, AnneRonan, Anne论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet Unit, Clin Genet, Waratah, NSW 2298, Australia Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsBrunet, TheresaBrunet, Theresa论文数: 0 引用数: 0 h-index: 0机构: Inst Med Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, D-85764 Neuherberg, Germany Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsKotzaeridou, UraniaKotzaeridou, Urania论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ Hosp, Dept Pediat, Div Child Neurol & Inherited Metab Dis, D-69120 Heidelberg, Germany Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsSvihovec, ShaynaSvihovec, Shayna论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Genet & Metab, Childrens Hosp Colorado, Anschutz Med Campus, Aurora, CO 80045 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsSaenz, Margarita S.Saenz, Margarita S.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Pediat, Sect Genet & Metab, Childrens Hosp Colorado, Anschutz Med Campus, Aurora, CO 80045 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsThiffault, IsabelleThiffault, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Sch Med, Kansas City, MO 64108 USA Childrens Mercy Res Inst, Ctr Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsDel Viso, FlorenciaDel Viso, Florencia论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Res Inst, Ctr Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsDevine, PatrickDevine, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsRego, ShannonRego, Shannon论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsTenney, JessicaTenney, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94143 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, Netherlandsvan Haeringen, Arievan Haeringen, Arie论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, NL-2333 Leiden, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsRuivenkamp, Claudia A. L.Ruivenkamp, Claudia A. L.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, NL-2333 Leiden, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsKoene, SaskiaKoene, Saskia论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, NL-2333 Leiden, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsRobertson, Stephen P.Robertson, 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 9016, New Zealand Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsDeshpande, CharulataDeshpande, Charulata论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsPfundt, RolphPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsVerbeek, NienkeVerbeek, Nienke论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3584 CX Utrecht, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, Netherlandsvan de Kamp, Jiddeke M.van de Kamp, Jiddeke M.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsWeiss, Janneke M. M.Weiss, Janneke M. M.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsRuiz, AnnaRuiz, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, UDIAT Ctr Diagnost, Genet Lab, Parc Tauli Hosp Univ,Inst Invest & Innovacio Parc, Sabadell 08208, Spain Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsGabau, ElisabethGabau, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Paediat Unit, Parc Tauli Hosp Univ, Inst Invest & Innovacio Parc Tauli I3PT, Barcelona 08208, Spain Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsBanne, EhudBanne, Ehud论文数: 0 引用数: 0 h-index: 0机构: Clalit Hlth Serv, Kaplan Med Ctr, IL-76100 Rehovot, Israel Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsPepler, AlexanderPepler, Alexander论文数: 0 引用数: 0 h-index: 0机构: Praxis Humangenet Tubingen, D-72076 Tubingen, Germany Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsBottani, ArmandBottani, Armand论文数: 0 引用数: 0 h-index: 0机构: Geneva Univ Hosp, Serv Genet Med, CH-1205 Geneva, Switzerland Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsLaurent, SachaLaurent, Sacha论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Dept Genet Med, CH-1211 Geneva, Switzerland Univ Geneva, Med Fac, CH-1211 Geneva, Switzerland Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsGuipponi, MichelGuipponi, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Dept Genet Med, CH-1211 Geneva, Switzerland Univ Geneva, Med Fac, CH-1211 Geneva, Switzerland Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsBijlsma, EmiliaBijlsma, Emilia论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, NL-2333 Leiden, Netherlands Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsBruel, Ange-LineBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, UMR1231 GAD, INSERM, F-21078 Dijon, France Dijon Bourgogne Univ Hosp, Ctr Reference Deficiences Intellectuelles Causes, F-21079 Dijon, France Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsSorlin, ArthurSorlin, Arthur论文数: 0 引用数: 0 h-index: 0机构: Dijon Bourgogne Univ Hosp, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, FHU TRANSLAD, F-21079 Dijon, France Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsWillis, MaryWillis, Mary论文数: 0 引用数: 0 h-index: 0机构: Naval Med Ctr San Diego, Dept Pediat, San Diego, CA 92134 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsPowis, ZoePowis, Zoe论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsSmol, ThomasSmol, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, Inst Genet Med, CHU Lille, RADEME EA7364, F-59000 Lille, France Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsVincent-Delorme, CatherineVincent-Delorme, Catherine论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Dept Clin Genet, F-59000 Lille, France Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsBaralle, DianaBaralle, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Southampton SO16 6YD, Hants, England Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsColin, EstelleColin, Estelle论文数: 0 引用数: 0 h-index: 0机构: CHU Angers, Serv Genet Med, F-49933 Angers, France Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsRevencu, NicoleRevencu, Nicole论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Ctr Human Genet, Clin Univ St Luc, B-1200 Brussels, Belgium Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsCalpena, EduardoCalpena, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Oxford OX3 9DS, England Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsWilkie, Andrew O. M.Wilkie, Andrew O. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, John Radcliffe Hosp, MRC Weatherall Inst Mol Med, Oxford OX3 9DS, England Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, NetherlandsChopra, MayaChopra, Maya论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Rosamund Stone Zander Translat Neurosci Ctr, Boston, MA 02115 USA Hubrecht Inst KNAW, Uppsalalaan 8, NL-3584 Utrecht, Netherlands