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- [1] Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorderANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2020, 7 (03): : 390 - 396Brunet, Theresa
Brunet, Theresa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Fac Med, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Fac Med, Inst Human Genet, Munich, GermanyRadivojkov-Blagojevic, MilenaRadivojkov-Blagojevic, Milena论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Fac Med, Inst Human Genet, Munich, GermanyLichtner, PeterLichtner, Peter论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Fac Med, Inst Human Genet, Munich, GermanyKraus, VerenaKraus, Verena论文数: 0 引用数: 0 h-index: 0机构: Techn Univ Munich, Klinikum Rechts Isar, Klin Kinder & Jugendmed, Munchen Klin Schwabing & Harlaching,Dept Pediat, Munich, Germany Tech Univ Munich, Fac Med, Inst Human Genet, Munich, GermanyMeitinger, ThomasMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Fac Med, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Fac Med, Inst Human Genet, Munich, GermanyWagner, MatiasWagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Fac Med, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, Germany Tech Univ Munich, Fac Med, Inst Human Genet, Munich, Germany - [2] Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaGENETICS IN MEDICINE, 2024, 26 (07)Asif, MariaAsif, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Mol Med Cologne CMMC, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyKhayyat, Arwa Ishaq A.Khayyat, Arwa Ishaq A.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Biochem Dept, Riyadh, Saudi Arabia Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyAlawbathani, SalemAlawbathani, Salem论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany GenAl Lab, Riyadh, Saudi Arabia Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyAbdullah, UzmaAbdullah, Uzma论文数: 0 引用数: 0 h-index: 0机构: PMAS Arid Agr Univ Rawalpindi, Univ Inst Biochem & Biotechnol UIBB, Rawalpindi, Pakistan Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanySanner, AnneSanner, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Biochem & Mol Biol, Med Fac, Bonn, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyGeorgomanolis, TheodorosGeorgomanolis, Theodoros论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Excellence Cluster Cellular Stress Respons, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyHaasters, JudithHaasters, Judith论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr Von Hauner Childrens Hosp, LMU Hosp Munich, Dept Paediat Neurol & Dev Med, Munich, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyBecker, KerstinBecker, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyBudde, Birgit论文数: 引用数: h-index:机构:Becker, ChristianBecker, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyThiele, HolgerThiele, Holger论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyBaig, Shahid M.Baig, Shahid M.论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Biol & Biomed Sci, Karachi, Pakistan Minist Natl Hlth Serv Regulat & Coordinat MNHSR&C, Hlth Serv Acad HSA, Islamabad, Pakistan Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyIsidoro-Garcia, MariaIsidoro-Garcia, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Univ Hosp Salamanca, Reference Unit Rare Dis DiERCyL, Med Dept,Clin Biochem Dept,IBSAL, Salamanca, Spain Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyWinter, DominicWinter, Dominic论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyPogoda, Hans -MartinPogoda, Hans -Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Zool, Dev Biol Unit, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyMuhammad, Sajjad论文数: 引用数: h-index:机构:Hammerschmidt, MatthiasHammerschmidt, Matthias论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Mol Med Cologne CMMC, Cologne, Germany Univ Cologne, Inst Zool, Dev Biol Unit, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyKraft, FlorianKraft, Florian论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet & Genom Med, Med Fac, Aachen, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyKurth, IngoKurth, Ingo论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet & Genom Med, Med Fac, Aachen, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyMartin, Hilario GomezMartin, Hilario Gomez论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca, Dept Pediat, Salamanca, Spain Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyWagner, MatiasWagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, Neuherberg, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyNuernberg, PeterNuernberg, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Mol Med Cologne CMMC, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyHussain, Muhammad SajidHussain, Muhammad Sajid论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Mol Med Cologne CMMC, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany
- [3] Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderGENETICS IN MEDICINE, 2022, 24 (08) : 1774 - 1780Cuinat, Silvestre论文数: 引用数: h-index:机构:Nizon, Mathilde论文数: 引用数: h-index:机构:Isidor, BertrandIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France Univ Nantes, Inst Thorax, Inserm UMR 1087, CNRS UMR 6291, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceStegmann, AlexanderStegmann, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, Francevan Jaarsveld, Richard H.van Jaarsveld, Richard H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, Francevan Gassen, Koen L.van Gassen, Koen L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, Francevan der Smagt, Jasper J.van der Smagt, Jasper J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVolker-Touw, Catharina M. L.Volker-Touw, Catharina M. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceHolwerda, Sjoerd J. B.Holwerda, Sjoerd J. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceTerhal, Paulien A.Terhal, Paulien A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceSchuhmann, SarahSchuhmann, Sarah论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg FAU, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVasileiou, GeorgiaVasileiou, Georgia论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg FAU, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceKhalifa, MohamedKhalifa, Mohamed论文数: 0 引用数: 0 h-index: 0机构: Latifa Women & Children Hosp, Genet Dept, Dubai Hlth Author, Dubai, U Arab Emirates Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceNugud, Alaa A.Nugud, Alaa A.论文数: 0 引用数: 0 h-index: 0机构: Latifa Women & Children Hosp, Genet Dept, Dubai Hlth Author, Dubai, U Arab Emirates Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceYasaei, HemadYasaei, Hemad论文数: 0 引用数: 0 h-index: 0机构: Dubai Hlth Author, Dubai Genet Ctr, Pathol & Genet Dept, Dubai, U Arab Emirates Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceOusager, Lilian BommeOusager, Lilian Bomme论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Odense Univ Hosp, Dept Clin Genet & Human Genet, Odense, Denmark Univ Southern Denmark, Odense Univ Hosp, Dept Clin Res, Odense, Denmark Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBrasch-Andersen, CharlotteBrasch-Andersen, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Odense Univ Hosp, Dept Clin Genet & Human Genet, Odense, Denmark Univ Southern Denmark, Odense Univ Hosp, Dept Clin Res, Odense, Denmark Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDeb, WallidDeb, Wallid论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France Univ Nantes, Inst Thorax, Inserm UMR 1087, CNRS UMR 6291, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBesnard, Thomas论文数: 引用数: h-index:机构:Simon, Marleen E. H.Simon, Marleen E. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceHuijsdens-van Amsterdam, KarinHuijsdens-van Amsterdam, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVerbeek, Nienke E.Verbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceMatalon, DenaMatalon, Dena论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDykzeul, NatalieDykzeul, Natalie论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceWhite, ShanaWhite, Shana论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceSpiteri, ElizabethSpiteri, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDevriendt, KoenDevriendt, Koen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Leuven, O&N I Herestr 49, Leuven, Belgium Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBoogaerts, AnneleenBoogaerts, Anneleen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Leuven, O&N I Herestr 49, Leuven, Belgium Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceWillemsen, MarjoleinWillemsen, Marjolein论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBrunner, Han G.Brunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceSinnema, MargjeSinnema, Margje论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDe Vries, Bert B. A.De Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceGerkes, Erica H.Gerkes, Erica H.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FrancePfundt, RolphPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceIzumi, KosukeIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceKrantz, Ian D.Krantz, Ian D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceXu, Zhou L.Xu, Zhou L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceMurrell, Jill R.Murrell, Jill R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceValenzuela, IreneValenzuela, Irene论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceCusco, IvonCusco, Ivon论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceRovira-Moreno, EulaliaRovira-Moreno, Eulalia论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceYang, YapingYang, Yaping论文数: 0 引用数: 0 h-index: 0机构: AiLife Diagnost, Pearland, TX USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBizaoui, VaroonaBizaoui, Varoona论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Estran, Clin Genet & Neurodev Disorders, Pontorson, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FrancePatat, OlivierPatat, Olivier论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Dept Med Genet, Toulouse, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceFaivre, LaurenceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, GAD, FHU TRANSLAD, Dijon, France Univ Bourgogne, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceTran-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, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVitobello, AntonioVitobello, Antonio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, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDenomme-Pichon, Anne-SophieDenomme-Pichon, Anne-Sophie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, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FrancePhilippe, ChristophePhilippe, Christophe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, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBezieau, StephaneBezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France Univ Nantes, Inst Thorax, Inserm UMR 1087, CNRS UMR 6291, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France
- [4] Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderGENETICS IN MEDICINE, 2024, 26 (05)Accogli, AndreaAccogli, Andrea论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr MUHC, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAPark, Young N.Park, Young N.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USALenk, Guy M.Lenk, Guy M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USASeverino, MariasavinaSeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAScala, 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 Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USADenecke, JonasDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Univ Childrens Hosp, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAHempel, MajaHempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USALessel, DavorLessel, Davor论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAKortuem, FannyKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USASalpietro, VincenzoSalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England Univ Aquila, Dept Biotechnol & Appl Clin Sci, I-67100 Laquila, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAde Marco, Patriziade Marco, Patrizia论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini, UOC Genet Med, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAGuerrisi, SaraGuerrisi, Sara论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini, UOC Genet Med, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USATorella, AnnalauraTorella, Annalaura论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USANigro, VincenzoNigro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USASrour, MyriamSrour, Myriam论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Dept Pediat, Div Pediat Neurol, Montreal, PQ, Canada McGill Univ Hlth Ctr MUHC, Res Inst, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USATurro, ErnestTurro, Ernest论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USALabarque, VeerleLabarque, Veerle论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium Univ Hosp Leuven, Paediat Hematooncol, Leuven, Belgium Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAFreson, KathleenFreson, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAPiatelli, GianlucaPiatelli, Gianluca论文数: 0 引用数: 0 h-index: 0机构: Gaslini Children s Hosp, Dept Neurosurg, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USACapra, ValeriaCapra, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Genom & Clin Genet, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAKitzman, Jacob O.Kitzman, Jacob O.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAMeisler, Miriam H.Meisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA
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- [7] Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndromeGENETICS IN MEDICINE, 2022, 24 (11) : 2399 - 2407Oh, Rachel YoujinOh, Rachel Youjin论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaDeshwar, Ashish R.Deshwar, Ashish R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaMarwaha, AshishMarwaha, Ashish论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaSabha, NesrinSabha, Nesrin论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaTropak, MichaelTropak, Michael论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaHou, HuayunHou, Huayun论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaYuki, Kyoko E.Yuki, Kyoko E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaWilson, Michael D.Wilson, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaRump, Patrick论文数: 引用数: h-index:机构:Lunsing, RoelinekeLunsing, Roelineke论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaElserafy, NohaElserafy, Noha论文数: 0 引用数: 0 h-index: 0机构: Liverpool Hosp, Dept Clin Genet, Sydney, NSW, Australia Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaChung, Clara W. 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T.论文数: 0 引用数: 0 h-index: 0机构: Liverpool Hosp, Dept Clin Genet, Sydney, NSW, Australia Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaHewson, StacyHewson, Stacy论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaKlein-Rodewald, TanjaKlein-Rodewald, Tanja论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaCalzada-Wack, JuliaCalzada-Wack, Julia论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaSanz-Moreno, AdrianSanz-Moreno, Adrian论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaKraiger, MarkusKraiger, Markus论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaMarschall, SusanMarschall, Susan论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaFuchs, HelmutFuchs, Helmut论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaGailus-Durner, ValerieGailus-Durner, Valerie论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canadade Angelis, Martin Hrabede Angelis, Martin Hrabe论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth GmbH, Helmholtz Zentrum Munchen, Inst Expt Genet, German Mouse Clin, Ingolstaedter Landstr, Neuherberg, Germany Tech Univ Munich, TUM Sch Life Sci, Chair Expt Genet, Freising Weihenstephan, Germany German Ctr Diabet Res DZD, Ingolstaedter Landstr, Neuherberg, Germany Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaDowling, JamesDowling, James论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Div Neurol, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, CanadaSchulze, AndreasSchulze, Andreas论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Univ Toronto, Dept Paediat, Toronto, ON, Canada Univ Toronto, Dept Biochem, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada
- [8] Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderANNALS OF NEUROLOGY, 2024,Blackburn, Patrick R.Blackburn, Patrick R.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAEbstein, FredericEbstein, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Inst Med Biochem & Mol Biol, Greifswald, Germany Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAHsieh, Tzung-ChienHsieh, Tzung-Chien论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMotta, MarialetiziaMotta, Marialetizia论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Mol Genet & Funct Genom, Rome, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARadio, Francesca ClementinaRadio, Francesca Clementina论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Mol Genet & Funct Genom, Rome, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAHerkert, Johanna C.Herkert, Johanna C.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARinne, TuulaRinne, Tuula论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAThiffault, IsabelleThiffault, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARapp, MicheleRapp, Michele论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Colorado, Dept Clin Nutr, Aurora, CO USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAAlders, MarielAlders, Mariel论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Genet, Amsterdam, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMaas, SaskiaMaas, Saskia论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Genet, Amsterdam, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAGerard, BenedicteGerard, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Strasbourg, Unite Biol & Genet Mol, Strasbourg, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USASmol, ThomasSmol, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, Inst Genet Med, RADEME Team, CHU Lille, Lille, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAVincent-Delorme, CatherineVincent-Delorme, Catherine论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Hop Jeanne Flandre, Dept Clin Genet, Lille, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USACogne, BenjaminCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France Nantes Univ, Serv Genet Med, CHU Nantes, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAIsidor, BertrandIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France Nantes Univ, Serv Genet Med, CHU Nantes, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAVincent, MarieVincent, Marie论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France Nantes Univ, Serv Genet Med, CHU Nantes, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USABachmann-Gagescu, RuxandraBachmann-Gagescu, Ruxandra论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Schlieren, Switzerland Univ Zurich, Dept Mol Life Sci, Zurich, Switzerland St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARauch, Anita论文数: 引用数: h-index:机构:Joset, PascalJoset, Pascal论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Inst Med Genet & Pathol, Med Genet, Basel, Switzerland St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAFerrero, Giovanni BattistaFerrero, Giovanni Battista论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, San Luigi Gonzaga Univ Hosp, Dept Clin & Biol Sci, Turin, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USACiolfi, AndreaCiolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Mol Genet & Funct Genom, Rome, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAHusson, ThomasHusson, Thomas论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Rouvray, Dept Res, Rouen, France Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAGuerrot, Anne-MarieGuerrot, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USABacino, CarlosBacino, Carlos论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMacmurdo, ColleenMacmurdo, Colleen论文数: 0 引用数: 0 h-index: 0机构: Baylor Scott & White Med Ctr, Dept Internal Med, Div Med Genet, Temple, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAThompson, Stephanie S.Thompson, Stephanie S.论文数: 0 引用数: 0 h-index: 0机构: Baylor Scott & White Med Ctr, Dept Internal Med, Div Med Genet, Temple, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARosenfeld, Jill A.Rosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAFaivre, LaurenceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Ctr Genet, Ctr Reference Anomalies Dev & Syndromes Malformat, FHU TRANSLAD CHU, Dijon, France Univ Bourgogne Franche Comte, Equipe GAD, INSERM UMR1231, Dijon, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMau-Them, Frederic TranMau-Them, Frederic Tran论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Equipe GAD, INSERM UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USADeb, WallidDeb, Wallid论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAVignard, VirginieVignard, Virginie论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAAgrawal, Pankaj B.Agrawal, Pankaj B.论文数: 0 引用数: 0 h-index: 0机构: Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA USA Univ Miami, Holtz Childrens Hosp, Dept Pediat, Div Neonatol,Miller Sch Med, Miami, FL USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMadden, Jill A.Madden, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA USA Univ Miami, Holtz Childrens Hosp, Dept Pediat, Div Neonatol,Miller Sch Med, Miami, FL USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAGoldenberg, AliceGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USALecoquierre, FrancoisLecoquierre, Francois论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAZech, MichaelZech, Michael论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogenom, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Tech Univ Munich, Inst Adv Study, Garching, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAProkisch, HolgerProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogenom, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Tech Univ Munich, Inst Adv Study, Garching, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USANecpal, JanNecpal, Jan论文数: 0 引用数: 0 h-index: 0机构: Zvolen Hosp, Dept Neurol, Zvolen, Slovakia Comenius Univ, Fac Med, Dept Neurol, Bratislava, Slovakia St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAJech, RobertJech, Robert论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Gen Univ Hosp, Fac Med 1, Dept Neurol, Prague, Czech Republic St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAWinkelmann, JulianeWinkelmann, Juliane论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Neurogenom, Neuherberg, Germany Tech Univ Muenchen, Neurogenet, Munich, Germany Klinikum Rechts Isar TUM, Inst Human Genet, Munich, Germany Munich Cluster Syst Neurol SyNergy, Munich, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAKoprusakova, Monika TurcanovaKoprusakova, Monika Turcanova论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Jessenius Fac Med Martin, Martin, Slovakia St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAKonstantopoulou, VassilikiKonstantopoulou, Vassiliki论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAYounce, John R.Younce, John R.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Neurol, Chapel Hill, NC USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAShinawi, MarwanShinawi, Marwan论文数: 0 引用数: 0 h-index: 0机构: St Louis Childrens Hosp, Div Genet & Genom Med, St. Louis, MO USA Washington Univ, Sch Med, Dept Neurol, St. Louis, MO USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMighton, ChloeMighton, Chloe论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada St Michaels Hosp, Li Ka 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h-index: 0机构: St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USA
- [9] LOSS-OF-FUNCTION VARIANTS IN CUL3 CAUSE A SYNDROMIC NEURODEVELOPMENTAL DISORDEREUROPEAN NEUROPSYCHOPHARMACOLOGY, 2024, 87 : 235 - 235Wang, TianyunWang, Tianyun论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R China Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaBlackburn, PatrickBlackburn, Patrick论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Memphis, TN USA Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaEbstein, FredericEbstein, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Inst Med Biochem & Mol Biol, Greifswald, Germany Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaHsieh, Tzung-ChienHsieh, Tzung-Chien论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaMotta, MarialetiziaMotta, Marialetizia论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediat Bambino Gesu, Mol Genet & Funct Gen, Rome, Italy Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaRadio, Francesca ClementinaRadio, Francesca Clementina论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediat Bambino Gesu, Mol Genet & Funct Gen, Rome, Italy Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaHerkert, JohannaHerkert, Johanna论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Groningen, Netherlands Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaRinne, TuulaRinne, Tuula论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaKrueger, ElkeKrueger, Elke论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Inst Med Biochem & Mol Biol, Greifswald, Germany Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaBezieau, StephaneBezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CNRS, CHU Nantes, INSERM,Inst Thorax, Nantes, France Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaKlinkhammer, HannahKlinkhammer, Hannah论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaKrawitz, Peter MichaelKrawitz, Peter Michael论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CNRS, CHU Nantes, INSERM,Inst Thorax, Nantes, France Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaEichler, EvanEichler, Evan论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Seattle, WA USA Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaTartaglia, MarcoTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediat Bambino Gesu, Mol Genet & Funct Gen, Rome, Italy Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R ChinaKuery, SebastienKuery, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CNRS, CHU Nantes, INSERM,Inst Thorax, Nantes, France Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing, Peoples R China
- [10] Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case reportBMC MEDICAL GENETICS, 2020, 21 (01)Schultz-Rogers, LauraSchultz-Rogers, Laura论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAMuthusamy, KarthikMuthusamy, Karthik论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAVairo e, FilippoVairo e, Filippo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USAKlee, Eric W.Klee, Eric W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USALanpher, BrendanLanpher, Brendan论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USA