共 21 条
- [1] TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1484 - 1485论文数: 引用数: h-index:机构:Lewis, Sara A.论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaBakhtiari, Somayeh论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaNordlie, Sandra Hinz论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaPagnozzi, Alex论文数: 0 引用数: 0 h-index: 0机构: Australian eHlth Res Ctr, Brisbane, Qld, Australia Concordia Univ, Dept Biol, Montreal, PQ, CanadaMagee, Helen论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Concordia Univ, Dept Biol, Montreal, PQ, CanadaHeim, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaCornejo, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Coll Med, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaZaki, Maha论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Concordia Univ, Dept Biol, Montreal, PQ, CanadaNeilson, Derek E.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaVemuri, Anusha论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Chicago, IL USA Concordia Univ, Dept Biol, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Yang, Xiao-Ru论文数: 0 引用数: 0 h-index: 0机构: SW Calgary, Alberta Childrens Hosp, Calgary, AB, Canada Concordia Univ, Dept Biol, Montreal, PQ, CanadaHeidari, Abolfazl论文数: 0 引用数: 0 h-index: 0机构: Qazvin Med Univ, Qazvin, Iran Concordia Univ, Dept Biol, Montreal, PQ, Canadavan Gassen, Koen L. I.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Concordia Univ, Dept Biol, Montreal, PQ, CanadaTrimouille, Aurelien论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Hop Pellegrin, Bordeaux, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaThauvin-Robinet, Christel论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants, Ctr Genet, Dijon, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaLiu, James论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Lab Genet Anomalies Dev, Dijon, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaHashem, Mais Omar论文数: 0 引用数: 0 h-index: 0机构: Saudi Human Genome Program, Riyadh, Saudi Arabia Concordia Univ, Dept Biol, Montreal, PQ, CanadaKarimiani, Ehsan Ghayoor论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, London, England Concordia Univ, Dept Biol, Montreal, PQ, CanadaSayin, Gozde Yesil论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkyie Concordia Univ, Dept Biol, Montreal, PQ, CanadaLingappa, Lokesh论文数: 0 引用数: 0 h-index: 0机构: Rainbow Children Hosp, Hyderabad, India Concordia Univ, Dept Biol, Montreal, PQ, CanadaBaruah, Debangana论文数: 0 引用数: 0 h-index: 0机构: Rainbow Children Hosp, Hyderabad, India Concordia Univ, Dept Biol, Montreal, PQ, CanadaVan Gils, Julien论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Lab Genet Mol, Hop Pellegrin, Bordeaux, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants, Ctr Genet, Dijon, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaZamani, Mina论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Biol, Fac Sci, Ahvaz, Iran Concordia Univ, Dept Biol, Montreal, PQ, CanadaGalehdari, Hamid论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Biol, Fac Sci, Ahvaz, Iran Concordia Univ, Dept Biol, Montreal, PQ, CanadaMohammad, Rahema论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Concordia Univ, Dept Biol, Montreal, PQ, Canadavan der Smagt, Jasper论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands Concordia Univ, Dept Biol, Montreal, PQ, CanadaQari, Alya论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Riyadh, Saudi Arabia Concordia Univ, Dept Biol, Montreal, PQ, CanadaVincent, John B.论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Toronto, ON, Canada Concordia Univ, Dept Biol, Montreal, PQ, CanadaInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: SW Calgary, Alberta Childrens Hosp, Calgary, AB, Canada Concordia Univ, Dept Biol, Montreal, PQ, CanadaDursun, Ali论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Ankara, Turkyie Concordia Univ, Dept Biol, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Akar, Halil Tuna论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Ankara, Turkyie Concordia Univ, Dept Biol, Montreal, PQ, CanadaBilguvar, Kaya论文数: 0 引用数: 0 h-index: 0机构: Acibadem Mehmet Ali Aydinlar Univ, Istanbul, Turkyie Concordia Univ, Dept Biol, Montreal, PQ, CanadaMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, AP HP, Dept Genet, Paris, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, AP HP, Dept Genet, Paris, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaRavelli, Claudia论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, AP HP, Paris, France Concordia Univ, Dept Biol, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Afenjar, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, AP HP, Dept Genet, Paris, France Concordia Univ, Dept Biol, Montreal, PQ, CanadaKaat, Laura Donker论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Rotterdam, Netherlands Concordia Univ, Dept Biol, Montreal, PQ, CanadaAlkuraya, Fowzan论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia Concordia Univ, Dept Biol, Montreal, PQ, CanadaHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Concordia Univ, Dept Biol, Montreal, PQ, CanadaPadilla-Lopez, Segio论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, CanadaMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Concordia Univ, Dept Biol, Montreal, PQ, CanadaSacher, Michael论文数: 0 引用数: 0 h-index: 0机构: Concordia Univ, Dept Biol, Montreal, PQ, Canada Concordia Univ, Dept Biol, Montreal, PQ, CanadaKruer, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Barrow Neurol Inst, Phoenix, AZ USA Concordia Univ, Dept Biol, Montreal, PQ, Canada
- [2] TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsBRAIN, 2024, 147 (01) : 311 - 324论文数: 引用数: h-index:机构:Lewis, Sara A.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ 85016 USA Univ Arizona, Coll Med Phoenix, Dept Child Hlth, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Cellular & Mol Med, Arizona Biomed Collaborat Bldg 1, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Genet, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Neurol, Phoenix, AZ 85004 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaBakhtiari, Somayeh论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ 85016 USA Univ Arizona, Coll Med Phoenix, Dept Child Hlth, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Cellular & Mol Med, Arizona Biomed Collaborat Bldg 1, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Genet, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Neurol, Phoenix, AZ 85004 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaNordlie, Sandra Hinz论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ 85016 USA Univ Arizona, Coll Med Phoenix, Dept Child Hlth, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Cellular & Mol Med, Arizona Biomed Collaborat Bldg 1, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Genet, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Neurol, Phoenix, AZ 85004 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaPagnozzi, Alex论文数: 0 引用数: 0 h-index: 0机构: CSIRO Hlth & Biosecur, Australian E Hlth Res Ctr, Brisbane, Qld 4029, Australia Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaMagee, Helen论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ 85016 USA Univ Arizona, Coll Med Phoenix, Dept Child Hlth, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Cellular & Mol Med, Arizona Biomed Collaborat Bldg 1, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Genet, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Neurol, Phoenix, AZ 85004 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaEfthymiou, Stephanie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 Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaHeim, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ 85016 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, Canada论文数: 引用数: h-index:机构:Zaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Cairo 12622, Egypt Armed Forces Coll Med AFCM, Genet Dept, Cairo 4460015, Egypt Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaAnwar, Najwa论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Inst Child Hlth, Dept Dev & Behav Paediat, Lahore 54000, Pakistan Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaMaqbool, Shazia论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Inst Child Hlth, Dept Dev & Behav Paediat, Lahore 54000, Pakistan Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaRahman, Fatima论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp & Inst Child Hlth, Dept Dev & Behav Paediat, Lahore 54000, Pakistan Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaNeilson, Derek E.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Genet & Metab, Phoenix, AZ 85016 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaVemuri, Anusha论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Pathol, Chicago, IL 60637 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, Canada论文数: 引用数: h-index:机构:Yang, Xiao-Ru论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB T2N 4N1, Canada Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Calgary, AB T2N 4N1, Canada Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaHeidari, Abolfazl论文数: 0 引用数: 0 h-index: 0机构: Qazvin Med Univ, Reference Lab, Qazvin 3414833245, Iran Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, Canadavan Gassen, Koen论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht UMCU, Clin Genet Sect, Div Labs, Pharm & Biomed Genet, NL-3584 CX Utrecht, Netherlands Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaTrimouille, Aurelien论文数: 0 引用数: 0 h-index: 0机构: Hop Pellegrin, CHU Bordeaux, Lab Genet Mol, Serv Genet Med, Pl Amelie Raba Leon, F-33000 Bordeaux, France Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaThauvin-Robinet, Christel论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Dept Genet, F-21000 Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Reference Ctr Dev Disorders & Intellectual Disabi, F-21000 Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, FHU TRANSLAD, F-21000 Dijon, France Univ Bourgogne, INSERM, UMR1231, GAD Genet Anomalies Dev, F-21078 Dijon, France Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaLiu, James论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ 85016 USA Univ Arizona, Coll Med Phoenix, Dept Child Hlth, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Cellular & Mol Med, Arizona Biomed Collaborat Bldg 1, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Genet, Phoenix, AZ 85004 USA Univ Arizona, Coll Med Phoenix, Dept Neurol, Phoenix, AZ 85004 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, FHU TRANSLAD, F-21000 Dijon, France Univ Bourgogne, INSERM, UMR1231, GAD Genet Anomalies Dev, F-21078 Dijon, France Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaTomoum, Hoda论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Univ, Dept Pediat, Cairo 11516, Egypt Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaShata, Mennatallah O.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Univ, Dept Pediat, Cairo 11516, Egypt Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaHashem, Mais O.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh 11211, Saudi Arabia Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaToosi, Mehran Beiraghi论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Ghaem Hosp, Pediat Neurol Dept, Mashhad 1394491388, Iran Mashhad Univ Med Sci, Neurosci Res Ctr, Mashhad 1394491388, Razavi Khorasan, Iran Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaKarimiani, Ehsan Ghayoor论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Mol & Clin Sci Inst, London SW17 0RE, England Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaYesil, Gozde论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Med Fac, Dept Med Genet, TR-34452 Istanbul, Turkiye Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaLingappa, Lokesh论文数: 0 引用数: 0 h-index: 0机构: Rainbow Children Hosp, Pediat Neurol, Hyderabad 500034, India Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaBaruah, Debangana论文数: 0 引用数: 0 h-index: 0机构: Rainbow Children Hosp, Pediat Neurol, Hyderabad 500034, India Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaEbrahimzadeh, Farnoosh论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Dept Internal Med, Mashhad 1394491388, Iran Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaVan-Gils, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht UMCU, Clin Genet Sect, Div Labs, Pharm & Biomed Genet, NL-3584 CX Utrecht, Netherlands Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Dept Genet, F-21000 Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Reference Ctr Dev Disorders & Intellectual Disabi, F-21000 Dijon, France Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaZamani, Mina论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Fac Sci, Dept Biol, Ahvaz 6135783151, Iran Narges Med Genet & Prenatal Diag Lab, Ahvaz 6155889467, Khuzestan, Iran Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaGalehdari, Hamid论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Fac Sci, Dept Biol, Ahvaz 6135783151, Iran Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaSadeghian, Saeid论文数: 0 引用数: 0 h-index: 0机构: Ahvaz Jundishapur Univ Med Sci, Golestan Med Educ & Res Ctr, Dept Paediat Neurol, Ahvaz 6135733118, Iran Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaShariati, Gholamreza论文数: 0 引用数: 0 h-index: 0机构: Narges Med Genet & Prenatal Diag Lab, Ahvaz 6155889467, Khuzestan, Iran Ahvaz Jundishapur Univ Med Sci, Fac Med, Dept Med Genet, Ahvaz 6135733118, Iran Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaMohammad, Rahema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 Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, Canadavan der Smagt, Jasper论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht UMCU, Clin Genet Sect, Div Labs, Pharm & Biomed Genet, NL-3584 CX Utrecht, Netherlands Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaQari, Alya论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Med Genom, Riyadh 11564, Saudi Arabia Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaVincent, John B.论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev MiND Lab, Toronto, ON M6J 1H4, Canada Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB T2N 4N1, Canada Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Calgary, AB T2N 4N1, Canada Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, Canada论文数: 引用数: h-index:机构:Ozgul, R. Koksal论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Metab, TR-06800 Ankara, Turkiye Inst Child Hlth, TR-06800 Ankara, Turkiye Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaAkar, Halil Tuna论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Metab, TR-06800 Ankara, Turkiye Inst Child Hlth, TR-06800 Ankara, Turkiye Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaBilguvar, Kaya论文数: 0 引用数: 0 h-index: 0机构: Acibadem Mehmet Ali Aydinlar Univ, Dept Med Genet, 34752 Ankara, Turkiye Yale Univ, Sch Med, Dept Neurosurg & Genet, New Haven, CT 06520 USA Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Trousseau, APHP, Dept Genet, F-75013 Paris, France Grp Hosp Pitie Salpetriere, F-75013 Paris, France Ctr Reference Deficiences Intellectuelles Causes, F-75012 Paris, France Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Trousseau, APHP, Dept Genet, F-75013 Paris, France Grp Hosp Pitie Salpetriere, F-75013 Paris, France Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, CanadaRaveli, Claudia论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Trousseau, APHP, Serv Neuropediat, F-75012 Paris, France Concordia Univ, Dept Biol, Montreal, PQ H4B 1R6, Canada
- [3] A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic featuresJOURNAL OF MEDICAL GENETICS, 2018, 55 (01) : 48 - 54Marin-Valencia, Isaac论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USANovarino, Gaia论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USA Inst Sci & Technol Austria IST, Klosterneuburg, Austria Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAJohansen, Anide论文数: 0 引用数: 0 h-index: 0机构: Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USARosti, Basak论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USA Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAIssa, Mahmoud Y.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAMusaev, Damir论文数: 0 引用数: 0 h-index: 0机构: Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USABhat, Gifty论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAScott, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USASilhavy, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAStanley, Valentina论文数: 0 引用数: 0 h-index: 0机构: Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USARosti, Rasim O.论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USA Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAGleeson, Jeremy W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAImam, Farhad B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAZaki, Maha S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USAGleeson, Joseph G.论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USA Univ Calif La Jolla, Howard Hughes Med Inst, Lab Pediat Brain Dis, La Jolla, CA USA Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA USA Rockefeller Univ, Howard Hughes Med Inst, Lab Pediat Brain Dis, 1230 York Ave, New York, NY 10021 USA
- [4] Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and micePLOS GENETICS, 2022, 18 (03):Rawlins, Lettie E.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England Royal Devon & Exeter Hosp Heavitree, Peninsula Clin Genet Serv, Exeter, Devon, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England论文数: 引用数: h-index:机构:Khan, Shazia论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England Int Islamic Univ, Dept Biol Sci, Islamabad, Pakistan Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandCollins, Stephan C.论文数: 0 引用数: 0 h-index: 0机构: Inst Genet & Mol & Cellular Biol, Inserm, Illkirch Graffenstaden, France Univ Bourgogne Franche Comte, Inserm, Dijon, France Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandMilev, Miroslav P.论文数: 0 引用数: 0 h-index: 0机构: Concordia Univ, Dept Biol, Montreal, PQ, Canada Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England论文数: 引用数: h-index:机构:Saint-Dic, Djenann论文数: 0 引用数: 0 h-index: 0机构: Concordia Univ, Dept Biol, Montreal, PQ, Canada Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandKhan, Valeed论文数: 0 引用数: 0 h-index: 0机构: Rehman Med Inst, Dept Mol Diagnost, Peshawar, Pakistan Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandHincapie, Ana Maria论文数: 0 引用数: 0 h-index: 0机构: Concordia Univ, Dept Biol, Montreal, PQ, Canada Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandDay, Jacob O.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England Univ Plymouth, Fac Hlth, Plymouth, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandMcGavin, Lucy论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Plymouth NHS Trust, Plymouth, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandRowley, Christine论文数: 0 引用数: 0 h-index: 0机构: Wellcome Sanger Inst, Cambridge, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandHarlalka, Gaurav V.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England Rajarshi Shahu Coll Pharm, Dept Pharmacol, Buldana, India Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandVancollie, Valerie E.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Sanger Inst, Cambridge, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England论文数: 引用数: h-index:机构:Lelliott, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Sanger Inst, Cambridge, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England论文数: 引用数: h-index:机构:Yalcin, Binnaz论文数: 0 引用数: 0 h-index: 0机构: Inst Genet & Mol & Cellular Biol, Inserm, Illkirch Graffenstaden, France Univ Bourgogne Franche Comte, Inserm, Dijon, France Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandCrosby, Andrew H.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandSacher, Michael论文数: 0 引用数: 0 h-index: 0机构: Concordia Univ, Dept Biol, Montreal, PQ, Canada McGill Univ, Dept Anat & Cell Biol, Montreal, PQ, Canada Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, EnglandBaple, Emma L.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England Royal Devon & Exeter Hosp Heavitree, Peninsula Clin Genet Serv, Exeter, Devon, England Univ Exeter Med Sch, RD&E Wonford NHS Fdn Trust, RILD Wellcome Wolfson Med Res Ctr, Exeter, Devon, England
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- [6] Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaGENETICS IN MEDICINE, 2024, 26 (07)Asif, 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.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, 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, 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, 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, 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, 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, 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, Germany论文数: 引用数: h-index:机构:Becker, 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, 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.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, 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, 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 -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, Germany论文数: 引用数: h-index:机构:Hammerschmidt, 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, Florian论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet & Genom Med, Med 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