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- [31] Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosisEuropean Journal of Human Genetics, 2021, 29 : 1566 - 1569Bryn D. Webb论文数: 0 引用数: 0 h-index: 0机构: Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic SciencesHilary Hotchkiss论文数: 0 引用数: 0 h-index: 0机构: Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic SciencesPankaj Prasun论文数: 0 引用数: 0 h-index: 0机构: Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic SciencesBruce D. Gelb论文数: 0 引用数: 0 h-index: 0机构: Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic SciencesLisa Satlin论文数: 0 引用数: 0 h-index: 0机构: Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic Sciences
- [32] Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative DiseaseJOURNAL OF CHILD NEUROLOGY, 2019, 34 (02) : 74 - 80Accogli, Andrea论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat & Human Genet, Montreal, PQ, Canada UOC Neurochirurg, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Genoa, Italy McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaGuerrero, Kether论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat & Human Genet, Montreal, PQ, Canada McGill Univ, Div Med Genet, Dept Internal Med, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Child Hlth & Human Dev Program, Res Inst, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaD'Agostino, Maria Daniela论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Div Med Genet, Dept Internal Med, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaTran, Luan论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat & Human Genet, Montreal, PQ, Canada McGill Univ, Div Med Genet, Dept Internal Med, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Child Hlth & Human Dev Program, Res Inst, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaCieuta-Walti, Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Sherbrooke, Serv Neuropediat, Quebec City, PQ, Canada Inst Lejeune, Paris, France McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaThiffault, 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 Univ Missouri, Sch Med, Kansas City, MO 64108 USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaChenier, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Univ Sherbrooke, Div Med Genet, Dept Pediat, CHU Sherbrooke, Sherbrooke, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaSchwartzentruber, Jeremy论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaMajewski, Jacek论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaBernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat & Human Genet, Montreal, PQ, Canada McGill Univ, Div Med Genet, Dept Internal Med, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Child Hlth & Human Dev Program, Res Inst, Hlth Ctr, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
- [33] Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal DystrophiesJAMA OPHTHALMOLOGY, 2024, 142 (11) : 1081 - 1086Ullah, Ehsan论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USALin, Siying论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USALu, Jiaxiong论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Verna & Marrs McLean Dept Biochem & Mol Biol, Houston, TX 77030 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USABender, Chelsea论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAMalka, Samantha论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Natl Inst Hlth Res, Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAMadhusudhan, Savita论文数: 0 引用数: 0 h-index: 0机构: Univ Liverpool, Dept Eye & Vis Sci, Liverpool, England Liverpool Univ Hosp NHS Fdn Trust, St Pauls Eye Unit, Liverpool, England NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USARees, Emma论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Clin Genet Serv, Birmingham, England NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAWilliams, Denise论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Clin Genet Serv, Birmingham, England NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAAgather, Aime R.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USACukras, Catherine A.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAHufnagel, Robert B.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA Kaiser Permanente Hawaii, Ctr Integrated Hlth Res, Hawaii Permanente Med Grp, Honolulu, HI 96819 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAChen, Rui论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Verna & Marrs McLean Dept Biochem & Mol Biol, Houston, TX 77030 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USAHuryn, Laryssa A.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA论文数: 引用数: h-index:机构:Guan, Bin论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD USA
- [34] Biallelic loss-of-function variants inNEMFcause central nervous system impairment and axonal polyneuropathyHUMAN GENETICS, 2021, 140 (04) : 579 - 592Ahmed, Ashfaque论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaWang, Meng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaBergant, Gaber论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaZhao, Rongjuan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch 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Arabia King Saud Bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Minist Natl Guard Hlth Affairs MNGHA, Coll Med, Riyadh, Saudi Arabia Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaEyaid, Wafaa论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, King Abdulaziz Med City, Minist Natl Guard Hlth Affairs MNGHA, Riyadh, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, Minist Natl GuardHealth Affairs MNGHA, King Abdulaziz Med City,Genet Div,Dept Pediat, Riyadh, Saudi Arabia Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaAlswaid, Abdulrahman论文数: 0 引用数: 0 h-index: 0机构: King Abdul Aziz Med City, Dept Pediat, Riyadh, Saudi Arabia Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaBeetz, 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Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaShen, Lu论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaDong, Shanshan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaYang, Xinyi论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaLiu, Cenying论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaMa, Linya论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaZhang, Qiumeng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaKhan, Rizwan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China论文数: 引用数: h-index:机构:Guo, Jifeng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaTang, Beisha论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Natl Clin Res Ctr Geriatr 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Kun论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Chinese Acad Sci, CAS Ctr Excellence Brain Sci & Intelligences Tech, Shanghai, Peoples R China Cent South Univ, Hunan Key Lab Mol Precis Med, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R ChinaHu, Zhengmao论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China Hunan Key Lab Anim Models Human Dis, Changsha, Hunan, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Changsha, Hunan, Peoples R China
- [35] Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2021, 29 (11) : 1663 - 1668Haag, Natja论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, Germany Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyTan, Ene-Choo论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, KK Res Ctr Genet Serv, Singapore, Singapore Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyBegemann, Matthias论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, Germany Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyBuschmann, Lars论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, Germany Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyKraft, Florian论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, Germany Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyHolschbach, Petra论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Med Fac, Dept Pediat, Div Neuropediat & Social Pediat, Aachen, Germany Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyLai, Angeline H. M.论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, KK Res Ctr Genet Serv, Singapore, Singapore Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyBrett, Maggie论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, KK Res Ctr Genet Serv, Singapore, Singapore Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyMochida, Ganeshwaran H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat & Neurol, Boston, MA 02115 USA Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyDi Troia, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Mendelian Genom, Program Med & Populat Genet, Cambridge, MA 02142 USA Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyPais, Lynn论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Mendelian Genom, Program Med & Populat Genet, Cambridge, MA 02142 USA Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyNeil, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat & Neurol, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA USA Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyAl-Saffar, Muna论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat & Neurol, Boston, MA 02115 USA United Arab Emirates Univ, Coll Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyBastaki, Laila论文数: 0 引用数: 0 h-index: 0机构: Matern Hosp, Kuwait Med Genet Ctr, Shuwaikh, Kuwait Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyWalsh, Christopher A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat & Neurol, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA USA Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyKurth, Ingo论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, Germany Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, GermanyKnopp, Cordula论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, Germany Rhein Westfal TH Aachen, Med Fac, Inst Human Genet, Aachen, Germany
- [36] Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMOVEMENT DISORDERS, 2022, 37 (01) : 137 - 147Zech, Michael论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Munich, Germany Tech Univ Munich, Sch Med, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyKumar, Kishore R.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Concord Repatriat Gen Hosp, Concord Clin Sch, Mol Med Lab & Neurol Dept, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyReining, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Dept Gen Paediat, Munster, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyReunert, Janine论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Dept Gen Paediat, Munster, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyTchan, Michel论文数: 0 引用数: 0 h-index: 0机构: Westmead Hosp, Dept Genet Med, Westmead, NSW, Australia Univ Sydney, Sydney Med Sch, Camperdown, NSW, Australia Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyRiley, Lisa G.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Discipline Child & Adolescent Hlth, Sydney, NSW, Australia Childrens Hosp Westmead, Kids Res, Rare Dis Funct Genom, Sydney, NSW, Australia Childrens Med Res Inst, Sydney, NSW, Australia Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyDrew, Alexander P.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyAdam, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane & Womens Hosp, Dept Neurol, Brisbane, Qld, Australia Univ Queensland, Ctr Clin Res, Brisbane, Qld, Australia Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyBerutti, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Munich, Germany Tech Univ Munich, Sch Med, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Praxis Humangenet Tubingen, Tubingen, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyDerive, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Lab Biol Med Multisites SeqOIA, Paris, France Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyBakhtiari, Somayeh论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Dept Child Hlth, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Dept Cellular, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Dept Mol Med, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Program Genet, Phoenix, AZ USA Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany论文数: 引用数: h-index:机构:Kruer, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Dept Child Hlth, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Dept Cellular, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Dept Mol Med, Phoenix, AZ USA Univ Arizona, Arizona Coll Med, Program Genet, Phoenix, AZ USA Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyBardakjian, Tanya论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyGonzalez-Alegre, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA 19104 USA Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanySarmiento, Ignacio J. Keller论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Ken & Ruth Davee Dept Neurol, Chicago, IL 60611 USA Northwestern Univ, Feinberg Sch Med, Simpson Querrey Ctr Neurogenet, Chicago, IL 60611 USA Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany论文数: 引用数: h-index:机构:Lubbe, Steven J.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Ken & Ruth Davee Dept Neurol, Chicago, IL 60611 USA Northwestern Univ, Feinberg Sch Med, Simpson Querrey Ctr Neurogenet, Chicago, IL 60611 USA Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dept Dev Neurosci, London, England Great Ormond St Hosp Sick Children, Dept Neurol, London, England Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyClot, Fabienne论文数: 0 引用数: 0 h-index: 0机构: Lab Biol Med Multisites SeqOIA, Paris, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Dept Genet,UF Neurogenet Mol & Cellulaire, Paris, France Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyMeneret, Aurelie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Paris Brain Inst,ICM,Inserm,CNRS,DMU Neurosci, Paris, France Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany论文数: 引用数: h-index:机构:Fung, Victor S. C.论文数: 0 引用数: 0 h-index: 0机构: Westmead Hosp, Neurol Dept, Movement Disorders Unit, Westmead, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyVidailhet, Marie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Paris Brain Inst,ICM,Inserm,CNRS,DMU Neurosci, Paris, France Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyBaumann, Matthias论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Pediat, Innsbruck, Austria Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyMarquardt, Thorsten论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Dept Gen Paediat, Munster, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyWinkelmann, Juliane论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Tech Univ Munich, Munich, Germany Tech Univ Munich, Sch Med, Inst Human Genet, Munich, Germany Tech Univ Munich, Lehrstuhl Neurogenet, Munich, Germany SyNergy, Munich Cluster Syst Neurol, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Munich, GermanyBoesch, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany
- [37] DO HETEROZYGOUS LOSS-OF-FUNCTION VARIANTS IN MTOR CAUSE A TREATABLE NEURODEVELOPMENTAL PHENOTYPE?AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 707 - 708White, S. M.论文数: 0 引用数: 0 h-index: 0机构: Victorian Clin Genet Serv, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaBhoj, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Victorian Clin Genet Serv, Melbourne, Vic, AustraliaDauber, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Dept Pediat, Cincinnati, OH 45221 USA Victorian Clin Genet Serv, Melbourne, Vic, AustraliaMaystadt, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium Victorian Clin Genet Serv, Melbourne, Vic, AustraliaCrespin, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium Victorian Clin Genet Serv, Melbourne, Vic, AustraliaStark, Z.论文数: 0 引用数: 0 h-index: 0机构: Victorian Clin Genet Serv, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaAmor, D.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaHakonarson, H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Victorian Clin Genet Serv, Melbourne, Vic, AustraliaLi, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Victorian Clin Genet Serv, Melbourne, Vic, Australia
- [38] Rare loss-of-function variants in DOCK4 lead to neurodevelopmental delayEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 459 - 459Oppermann, Henry论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyHerbst, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyWegler, Meret论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyBothe, Viktoria论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanySticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ, Inst Biochem, Nurnberg, Germany Inst Human Genet, Leipzig, Germany论文数: 引用数: h-index:机构:van Eyk, Clare论文数: 0 引用数: 0 h-index: 0机构: Univ Adelaide, Adelaide, SA, Australia Robinson Res Inst, Adelaide, SA, Australia Inst Human Genet, Leipzig, GermanyJang, SeSong论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Seoul, South Korea Inst Human Genet, Leipzig, GermanyBakhtiari, Somayeh论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Phoenix, AZ USA Inst Human Genet, Leipzig, Germany论文数: 引用数: h-index:机构:Nizon, Mathilde论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Nantes, France Inst Human Genet, Leipzig, GermanySaugier-Veber, Pascale论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Nantes, France Inst Human Genet, Leipzig, GermanyLi, Megan论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Inst Human Genet, Leipzig, GermanyMark, Paul论文数: 0 引用数: 0 h-index: 0机构: Helen DeVos Childrens Hosp Med Genet, Grand Rapids, MI USA Inst Human Genet, Leipzig, GermanyKurolap, Alina论文数: 0 引用数: 0 h-index: 0机构: Genet Inst Inc, Haifa, Israel Inst Human Genet, Leipzig, GermanyThiffault, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Kansas City, KS USA Inst Human Genet, Leipzig, GermanyAbou Jamra, Rami论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, Germany
- [39] Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5Frontiers of Medicine, 2024, 18 : 81 - 97Liwei Sun论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickXueting Yang论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickAmjad Khan论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickXue Yu论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickHan Zhang论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickShirui Han论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickXiaerbati Habulieti论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickYang Sun论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickRongrong Wang论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusickXue Zhang论文数: 0 引用数: 0 h-index: 0机构: School of Basic Medicine Peking Union Medical College,McKusick
- [40] Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5FRONTIERS OF MEDICINE, 2024, 18 (01) : 81 - 97Sun, Liwei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chongqing Hlth Ctr Women & Children, Ctr Reprod Med, Natl Key Clin Special Construct Project Obstetr &, Chongqing Key Lab Human Embryo Engn, Chongqing 400013, Peoples R China Chongqing Med Univ, Chongqing Clin Res Ctr Reprod Med, Women & Childrens Hosp, Chongqing 400013, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaYang, Xueting论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaKhan, Amjad论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Univ Lakki Marwat, Fac Biol Sci, Dept Zool, Khyber Pakhtunkhwa 28420, Pakistan Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Alexander von Humboldt Fellowship Fdn, D-10117 Berlin, Germany Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaYu, Xue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Guangxi Med Univ, Affiliated Hosp 1, Dept Pediat, Nanning 530000, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaZhang, Han论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Lab Med, State Key Lab Complex Severe and Rare Dis, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaHan, Shirui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaHabulieti, Xiaerbati论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaSun, Yang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaWang, Rongrong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R ChinaZhang, Xue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med,Inst Basic Med Sci, State Key Lab Complex Severe & Rare Dis,Sch Basic, Beijing 100005, Peoples R China