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- [21] Diagnostic yield and clinical utility of broad-based genetic testing in a transplant waitlist populationAMERICAN JOURNAL OF TRANSPLANTATION, 2022, 22 : 83 - 83Romine, Margaret论文数: 0 引用数: 0 h-index: 0机构: East Carolina Univ, Greenville, NC 27858 USA East Carolina Univ, Greenville, NC 27858 USAAaron, Ashley论文数: 0 引用数: 0 h-index: 0机构: East Carolina Univ, Greenville, NC 27858 USA East Carolina Univ, Greenville, NC 27858 USA论文数: 引用数: h-index:机构:Raible, Darby论文数: 0 引用数: 0 h-index: 0机构: Natera Inc, Austin, TX USA East Carolina Univ, Greenville, NC 27858 USAKartchner, Laurel论文数: 0 引用数: 0 h-index: 0机构: Natera Inc, Austin, TX USA East Carolina Univ, Greenville, NC 27858 USA论文数: 引用数: h-index:机构:
- [22] Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityNPJ GENOMIC MEDICINE, 2020, 5 (01)Cheema, Huma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, Pakistan Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanBertoli-Avella, Aida M.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanSkrahina, Volha论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanAnjum, Muhammad Nadeem论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, Pakistan Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanWaheed, Nadia论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, Pakistan Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanSaeed, Anjum论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, Pakistan Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanBeetz, Christian论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanPerez-Lopez, Jordi论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanRocha, Maria Eugenia论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanAlawbathani, Salem论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanPereira, Catarina论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanHovakimyan, Marina论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanPatric, Irene Rosita Pia论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanPaknia, Omid论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanAmeziane, Najim论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanCozma, Claudia论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, PakistanRolfs, Arndt论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE AG, Rostock, Germany Univ Rostock, Rostock, Germany Childrens Hosp Lahore Hosp, Pediat Dept Gastroenterol, Lahore, Pakistan
- [23] Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilitynpj Genomic Medicine, 5Huma Cheema论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyAida M. Bertoli-Avella论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyVolha Skrahina论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyMuhammad Nadeem Anjum论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyNadia Waheed论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyAnjum Saeed论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyChristian Beetz论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyJordi Perez-Lopez论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyMaria Eugenia Rocha论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologySalem Alawbathani论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyCatarina Pereira论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyMarina Hovakimyan论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyIrene Rosita Pia Patric论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyOmid Paknia论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyNajim Ameziane论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyClaudia Cozma论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyPeter Bauer论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of GastroenterologyArndt Rolfs论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Lahore Hospital,Pediatric Department of Gastroenterology
- [24] Genetic testing for adults with epilepsy reveals a significant diagnostic yield and precision medicine implications for many individuals with a molecular diagnosisJOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429Narravula, Alekhya论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USAMcknight, Dianalee论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USABristow, Sara论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USATruty, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USAMorales, Ana论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USAWestbrook, Jody论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USARobinson, Kristina论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USARiethmaier, Darlene论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USABorlot, Felippe论文数: 0 引用数: 0 h-index: 0机构: Alberta Childrens Hosp Res Inst, Dept Pediat, Calgary, AB, Canada Invitae, Dept Med Affairs, San Francisco, CA USAKellogg, Marissa论文数: 0 引用数: 0 h-index: 0机构: OHSU Comprehens Epilepsy Ctr, Dept Neurol, Portland, OR USA Invitae, Dept Med Affairs, San Francisco, CA USAHwang, Sean论文数: 0 引用数: 0 h-index: 0机构: Hofstra Northwell, Donald & Barbara Zucker Sch Med, Dept Neurol, Hempstead, NY USA Invitae, Dept Med Affairs, San Francisco, CA USABerg, Anne论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Northwestern Feinberg Sch Med, Dept Pediat, Chicago, IL USA Invitae, Dept Med Affairs, San Francisco, CA USAAradhya, Swaroop论文数: 0 引用数: 0 h-index: 0机构: Invitae, Dept Med Affairs, San Francisco, CA USA Invitae, Dept Med Affairs, San Francisco, CA USA
- [25] Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patientsEuropean Journal of Human Genetics, 2023, 31 : 925 - 930Jan Henkel论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichAndreas Laner论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichMelanie Locher论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichTobias Wohlfrom论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichBirgit Neitzel论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichKerstin Becker论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichTeresa Neuhann论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichAngela Abicht论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichVerena Steinke-Lange论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,FriedrichElke Holinski-Feder论文数: 0 引用数: 0 h-index: 0机构: MGZ – Medizinisch Genetisches Zentrum,Friedrich
- [26] Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 (08) : 925 - 930Henkel, Jan论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany MGZ Med Genet Zent, Munich, GermanyLaner, Andreas论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany MGZ Med Genet Zent, Munich, GermanyLocher, Melanie论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany MGZ Med Genet Zent, Munich, GermanyWohlfrom, Tobias论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany MGZ Med Genet Zent, Munich, GermanyNeitzel, Birgit论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany MGZ Med Genet Zent, Munich, GermanyBecker, Kerstin论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany MGZ Med Genet Zent, Munich, GermanyNeuhann, Teresa论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany MGZ Med Genet Zent, Munich, GermanyAbicht, Angela论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany Ludwig Maximilians Univ Munchen, Klinikum Univ, Friedrich Baur Inst, Dept Neurol, Munich, Germany MGZ Med Genet Zent, Munich, GermanySteinke-Lange, Verena论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany Klinikum Univ, Med Klin & Poliklin 4, Campus Innenstadt, Munich, Germany MGZ Med Genet Zent, Munich, GermanyHolinski-Feder, Elke论文数: 0 引用数: 0 h-index: 0机构: MGZ Med Genet Zent, Munich, Germany Klinikum Univ, Med Klin & Poliklin 4, Campus Innenstadt, Munich, Germany MGZ Med Genet Zent, Munich, Germany
- [27] Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular CenterNEUROLOGY-CLINICAL PRACTICE, 2024, 14 (02)Ebert, Suzahn E.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Neurol, Charlottesville, VA USA Univ Virginia, Dept Neurol, Charlottesville, VA USAMeiling, James B.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Phys Med & Rehabil, Rochester, MN USA Univ Virginia, Dept Neurol, Charlottesville, VA USACaress, James B.论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Dept Neurol, Winston Salem, NC 27101 USA Univ Virginia, Dept Neurol, Charlottesville, VA USAMehta, Rachana K. Gandhi论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Dept Neurol, Winston Salem, NC 27101 USA Univ Virginia, Dept Neurol, Charlottesville, VA USAPenry, Vanessa Baute论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Dept Neurol, Winston Salem, NC 27101 USA Univ Virginia, Dept Neurol, Charlottesville, VA USAPuwanant, Araya论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Dept Neurol, Winston Salem, NC 27101 USA Univ Virginia, Dept Neurol, Charlottesville, VA USACartwright, Michael S.论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Dept Neurol, Winston Salem, NC 27101 USA Univ Virginia, Dept Neurol, Charlottesville, VA USA
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Shanxi Prov Peoples Hosp, Community Hlth Serv Guidance Ctr, Taiyuan, Shanxi, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaZhou, Yidong论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaMao, Feng论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaLin, Yan论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaShen, Songjie论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaZhang, Xiaohui论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaWang, Xuejing论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaZhong, Ying论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaQin, Xue论文数: 0 引用数: 0 h-index: 0机构: Langfang Peoples Hosp, Dept Oncol, Langfang, Hebei, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaGuo, Hailin论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaWang, Xiaojie论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaXiao, Yao论文数: 0 引用数: 0 h-index: 0机构: Longhui Peoples Hosp, Anesthesia Operat Ctr, Changsha, Hunan, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaYi, Qianchuan论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Dept Gen Surg, Univ Town Hosp, Chongqing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaYan, Cunli论文数: 0 引用数: 0 h-index: 0机构: Baoji Maternal & Child Hlth Hosp, Dept Breast Surg, Baoji, Shaanxi, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaLiu, Jian论文数: 0 引用数: 0 h-index: 0机构: ZhaLanTun Hosp Tradit Chinese Med, Dept Gen Surg, Inner Mongolia, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaLi, Dongdong论文数: 0 引用数: 0 h-index: 0机构: Karamay Ctr Hosp, Dept Radiol & Otolaryngol, Karamay, Xinjiang, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaLiu, Wei论文数: 0 引用数: 0 h-index: 0机构: Karamay Ctr Hosp, Dept Radiol & Otolaryngol, Karamay, Xinjiang, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaLiu, Mengwen论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll, Dept Radiol, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaMa, Xiaoying论文数: 0 引用数: 0 h-index: 0机构: Qinghai Prov Peoples Hosp, Dept Breast Surg, Xining, Qinghai, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaTao, Jiangtao论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Peoples Hosp, Dept Gen Surg, Shenzhen, Guangdong, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaSun, Qiang论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Breast Surg Dept, 3 Dongdan, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaZhai, Jidong论文数: 0 引用数: 0 h-index: 0机构: Tsinghua Univ, Beijing, Peoples R China Tsinghua Univ, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R ChinaHuang, Likun论文数: 0 引用数: 0 h-index: 0机构: Shanxi Prov Peoples Hosp, Community Hlth Serv Guidance Ctr, Taiyuan, Shanxi, Peoples R China Shanxi Prov Peoples Hosp, Community Hlth Serv Guidance Ctr, Taiyuan, Shanxi, Peoples R China Peking Union Med Coll Hosp, Dept Breast Surg, Beijing, Peoples R China
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