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- [41] Clinical utility of exome sequencing in a pediatric epilepsy cohortEPILEPSIA, 2023, 64 (04) : 986 - 997Graifman, Jordana L.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USALippa, Natalie C.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USA Columbia Univ, Inst Genom Med, Irving Med Ctr, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Med, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USAMulhern, Maureen S.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Neurol, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USABergner, Amanda L.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Genet & Dev, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USASands, Tristan T.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, Irving Med Ctr, New York, NY USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Neurol, New York, NY USA Columbia Univ, Vagelos Coll Physiciancs & Surg, Irving Med Ctr, Dept Neurol, 180 Ft Washington Ave,Harkness Pavil 5-556, New York, NY 10032 USA Columbia Univ, Vagelos Coll Phys & Surg, Genet Counseling Grad Program, New York, NY USA
- [42] The clinical utility of rapid exome sequencing in a consanguineous populationGENOME MEDICINE, 2023, 15 (01)Monies, Dorota论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaGoljan, Ewa论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaAssoum, Mirna论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaAlbreacan, Muna论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaBinhumaid, Faisal论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaSubhani, Shazia论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Computat Sci, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaBoureggah, Abdulmlik论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaHashem, Mais H.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, MBC-26,POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaAbdulwahab, Firdous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, MBC-26,POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaAbuyousef, Omar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, MBC-26,POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaTemsah, Mohamad论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, King Khalid Univ Hosp, Dept Pediat, Pediat Crit Care Unit, Riyadh, Saudi Arabia King Saud Univ, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaAlsohime, Fahad F.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, King Khalid Univ Hosp, Dept Pediat, Pediat Crit Care Unit, Riyadh, Saudi Arabia King Saud Univ, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaKelaher, James S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Gen Corp Consultancy Dept, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaAbouelhoda, Mohamed论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Computat Sci, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaMeyer, Brian论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi ArabiaAlkuraya, Fowzan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, MBC-26,POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Clin Genom, Riyadh, Saudi Arabia
- [43] The clinical utility of rapid exome sequencing in a consanguineous populationGenome Medicine, 15Dorota Monies论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineEwa Goljan论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineMirna Assoum论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineMuna Albreacan论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineFaisal Binhumaid论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineShazia Subhani论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineAbdulmlik Boureggah论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineMais Hashem论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineFirdous Abdulwahab论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineOmar Abuyousef论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineMohamad H. Temsah论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineFahad Alsohime论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineJames Kelaher论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineMohamed Abouelhoda论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineBrian F. Meyer论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic MedicineFowzan S. Alkuraya论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hospital and Research Center,Department of Clinical Genomics, Center for Genomic Medicine
- [44] Clinical utility of exome sequencing in infantile heart failureGENETICS IN MEDICINE, 2020, 22 (02) : 423 - 426Ritter, Alyssa论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Cardiol, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USABedoukian, Emma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USABerger, Justin H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Cardiol, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USACopenheaver, Deborah论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAGray, Christopher论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAKrantz, Ian论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAJuusola, Jane论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USALeonard, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USALin, Kimberly论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Cardiol, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAMedne, Livija论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USASantani, Avni论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USASkraban, Cara论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAYang, Sandra论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAAhrens-Nicklas, Rebecca C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
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引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Dept Neurol, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaMcIntyre, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Child & Adolescent Hlth, Cerebral Palsy Alliance Res Inst, Sydney, NSW, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaBen-Pazi, Hilla论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Neuropediat Unit, Pediat Movement Disorders, Jerusalem, Israel Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaCorbett, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Adelaide, Adelaide Med Sch, Adelaide, SA, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaWang, Xiaoyang论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Dept Neurosci & Physiol, Gothenburg, Sweden Zhengzhou Univ, Affiliated Hosp 3, Dept Pediat, Zhengzhou, Henan, Peoples R China Henan Prov Key Lab Child Brain Injury, Zhengzhou, Henan, Peoples R China Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaBaynam, Gareth论文数: 0 引用数: 0 h-index: 0机构: Western Australian Dept Hlth, Western Australian Register Dev Anomalies & Genet, Perth, WA, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaFehlings, Darcy论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Paediat, Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dev Neurosci, London, England Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaZhu, Changlian论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Henan Key Lab Child Brain Injury, Zhengzhou, Henan, Peoples R China Univ Gothenburg, Inst Neurosci & Physiol, Ctr Brain Repair & Rehabil, Gothenburg, Sweden Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaHimmelmann, Kate论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Clin Sci, Dept Pediat, Gothenburg, Sweden Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaSmithers-Sheedy, Hayley论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Child & Adolescent Hlth, Cerebral Palsy Alliance Res Inst, Sydney, NSW, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaWilson, Yana论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Child & Adolescent Hlth, Cerebral Palsy Alliance Res Inst, Sydney, NSW, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaSantos Ocana, Carlos论文数: 0 引用数: 0 h-index: 0机构: CIBERER ISCIII, Andalusian Ctr Dev Biol CABD, Seville, Spain Univ Pablo Olavide, Seville, Spain Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australiavan Eyk, Clare论文数: 0 引用数: 0 h-index: 0机构: Univ Adelaide, Adelaide Med Sch, Adelaide, SA, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia论文数: 引用数: h-index:机构:Wintle, Richard F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaJacobsson, Bo论文数: 0 引用数: 0 h-index: 0机构: Gothenburg Univ, Sahlgrenska Acad, Dept Obstet & Gynecol, Gothenburg, Sweden Inst Publ Hlth, Domain Hlth Data & Digitalisat, Dept Genet & Bioinformat, Oslo, Norway Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia论文数: 引用数: h-index:机构:Mallard, Carina论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 3, Henan Key Lab Child Brain Injury, Zhengzhou, Henan, Peoples R China Univ Gothenburg, Inst Neurosci & Physiol, Ctr Brain Repair & Rehabil, Gothenburg, Sweden Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaPerez-Jurado, Luis A.论文数: 0 引用数: 0 h-index: 0机构: Univ Adelaide, Womens & Childrens Hosp, South Australian Hlth & Med Res Inst, Adelaide, SA, Australia Univ Pompeu Fabra, IMIM Hosp Mar, Barcelona, Spain CIBERER ISCIII, Barcelona, Spain Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaHallman, Mikko论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Dept Children & Adolescents, Oulu, Finland Univ Oulu, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu, Finland Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaRosenbaum, Peter J.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, CanChild Ctr Childhood Disabil Res, Hamilton, ON, Canada Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaKruer, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Coll Med, Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ USA Univ Arizona, Coll Med, Dept Child Hlth, Phoenix, AZ USA Univ Arizona, Coll Med, Dept Cellular & Mol Med, Phoenix, AZ USA Univ Arizona, Coll Med, Dept Neurol & Genet, Phoenix, AZ USA Univ Adelaide, Robinson Res Inst, Adelaide, SA, AustraliaGecz, Jozef论文数: 0 引用数: 0 h-index: 0机构: Univ Adelaide, Adelaide Med Sch, Adelaide, 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