日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

三重外显子组测序在19.62%的先天性肾脏和泌尿道畸形(CAKUT)家族中发现了新的候选基因中的新生变异。

Merz, Lea Maria; Kolvenbach, Caroline M; Wang, Chunyan; Mertens, Nils David; Seltzsam, Steve; Mansour, Bshara; Zheng, Bixia; Schneider, Sophia; Schierbaum, Luca; Hölzel, Selina; Salmanullah, Daanya; Pantel, Dalia; Kalkar, Gina; Connaughton, Dervla M; Mann, Nina; Wu, Chen-Han Wilfred; Kause, Franziska; Nakayama, Makiko; Dai, Rufeng; Schneider, Ronen; Buerger, Florian; Nicolas-Frank, Camille; Yousef, Kirollos; Lemberg, Katharina; Saida, Ken; Yu, Seyoung; Elmubarak, Izzeldin; Franken, Gijs A C; Lomjansook, Kraisoon; Braun, Alina; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed A; Kari, Jameela A; Ooda, Said; Fathy, Hanan M; Soliman, Neveen A; Nabhan, Marwa; Abdelrahman, Safaa; Hilger, Alina C; Mane, Shrikant M; Ferguson, Michael A; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm

Clinicopathological Study of Soft Tissue Neoplasms

软组织肿瘤的临床病理学研究

Paul, Anuja U; Mane, Shrikant M; Swami, Sunil Y; Gore, Alka

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

在排除NPHP1缺失后,外显子组测序在53%的肾脏超声检查中发现与纤毛病相关的家族中存在可能的致病变异。

Deutsch, Konstantin; Klämbt, Verena; Kitzler, Thomas M; Jobst-Schwan, Tilman; Schneider, Ronen; Buerger, Florian; Seltzsam, Steve; El Desoky, Sherif; Kari, Jameela A; Hafeez, Farkhanda; Szczepańska, Maria; Eid, Loai A; Awad, Hazem S; Al-Saffar, Muna; Soliman, Neveen A; Tasic, Velibor; Nicolas-Frank, Camille; Yousef, Kirollos; Schierbaum, Luca M; Schneider, Sophia; Halawi, Abdul; Elmubarak, Izzeldin; Lemberg, Katharina; Shril, Shirlee; Mane, Shrikant M; Rodig, Nancy; Hildebrandt, Friedhelm

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

反向表型分析有助于在先天性肾脏和泌尿道畸形(CAKUT)患者的外显子组测序中识别致病等位基因。

Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Mann, Nina; Connaughton, Dervla M; Wu, Chen-Han Wilfred; Schneider, Sophia; Schierbaum, Luca; Kause, Franziska; Kolvenbach, Caroline M; Nakayama, Makiko; Dai, Rufeng; Ottlewski, Isabel; Schneider, Ronen; Deutsch, Konstantin; Buerger, Florian; Klämbt, Verena; Mao, Youying; Onuchic-Whitford, Ana C; Nicolas-Frank, Camille; Yousef, Kirollos; Pantel, Dalia; Lai, Ethan W; Salmanullah, Daanya; Majmundar, Amar J; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Tasic, Velibor; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed; Kari, Jameela A; Fathy, Hanan M; Soliman, Neveen A; Mane, Shrikant M; Shril, Shirlee; Ferguson, Michael A; Hildebrandt, Friedhelm

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

拷贝数变异分析有助于识别肾脏和泌尿系统先天性异常患者的遗传病因

Wu, Chen-Han Wilfred; Lim, Tze Y; Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Schierbaum, Luca; Schneider, Sophia; Mann, Nina; Connaughton, Dervla M; Nakayama, Makiko; van der Ven, Amelie T; Dai, Rufeng; Kolvenbach, Caroline M; Kause, Franziska; Ottlewski, Isabel; Stajic, Natasa; Soliman, Neveen A; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan M; Milosevic, Danko; Turudic, Daniel; Al Saffar, Muna; Awad, Hazem S; Eid, Loai A; Ramanathan, Aravind; Senguttuvan, Prabha; Mane, Shrikant M; Lee, Richard S; Bauer, Stuart B; Lu, Weining; Hilger, Alina C; Tasic, Velibor; Shril, Shirlee; Sanna-Cherchi, Simone; Hildebrandt, Friedhelm

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

全外显子组测序鉴定出源自小鼠模型的脊柱裂潜在候选基因

Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Wu, Chen-Han Wilfred; Nicolas-Frank, Camille; Yousef, Kirollos; Au, Kit Sing; Mann, Nina; Pantel, Dalia; Schneider, Sophia; Schierbaum, Luca; Kitzler, Thomas M; Connaughton, Dervla M; Mao, Youying; Dai, Rufeng; Nakayama, Makiko; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohammed; Eid, Loai A; Awad, Hazem S; Tasic, Velibor; Mane, Shrikant M; Lifton, Richard P; Baum, Michelle A; Shril, Shirlee; Estrada, Carlos R; Hildebrandt, Friedhelm

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1基因的双等位基因变异会导致智力障碍、痉挛性肌张力障碍性脑瘫、癫痫和听力丧失。

Richard, Elodie M; Bakhtiari, Somayeh; Marsh, Ashley P L; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M; Guida, Brandon S; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y; Webster, Richard I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementina; Mancini, Cecilia; Claps Sepulveda, Dianela Judith; McWalter, Kirsty; Begtrup, Amber; Crunk, Amy; Guillen Sacoto, Maria J; Person, Richard; Schnur, Rhonda E; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K; Marks, Warren A; van Eyk, Clare L; Webber, Dani L; Corbett, Mark A; Harper, Kelly; Berry, Jesia G; MacLennan, Alastair H; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M; Hufnagel, Robert B; Fahey, Michael C; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M; Rad, Aboulfazl; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

全外显子组测序为肾移植受者实现精准医疗提供了可能

Mann, Nina; Braun, Daniela A; Amann, Kassaundra; Tan, Weizhen; Shril, Shirlee; Connaughton, Dervla M; Nakayama, Makiko; Schneider, Ronen; Kitzler, Thomas M; van der Ven, Amelie T; Chen, Jing; Ityel, Hadas; Vivante, Asaf; Majmundar, Amar J; Daga, Ankana; Warejko, Jillian K; Lovric, Svjetlana; Ashraf, Shazia; Jobst-Schwan, Tilman; Widmeier, Eugen; Hugo, Hannah; Mane, Shrikant M; Spaneas, Leslie; Somers, Michael J G; Ferguson, Michael A; Traum, Avram Z; Stein, Deborah R; Baum, Michelle A; Daouk, Ghaleb H; Lifton, Richard P; Manzi, Shannon; Vakili, Khashayar; Kim, Heung Bae; Rodig, Nancy M; Hildebrandt, Friedhelm

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

由乙酰胆碱受体突变引起的先天性肾脏及泌尿道畸形和自主神经功能障碍

Mann, Nina; Kause, Franziska; Henze, Erik K; Gharpure, Anant; Shril, Shirlee; Connaughton, Dervla M; Nakayama, Makiko; Klämbt, Verena; Majmundar, Amar J; Wu, Chen-Han W; Kolvenbach, Caroline M; Dai, Rufeng; Chen, Jing; van der Ven, Amelie T; Ityel, Hadas; Tooley, Madeleine J; Kari, Jameela A; Bownass, Lucy; El Desoky, Sherif; De Franco, Elisa; Shalaby, Mohamed; Tasic, Velibor; Bauer, Stuart B; Lee, Richard S; Beckel, Jonathan M; Yu, Weiqun; Mane, Shrikant M; Lifton, Richard P; Reutter, Heiko; Ellard, Sian; Hibbs, Ryan E; Kawate, Toshimitsu; Hildebrandt, Friedhelm

Early Assessment of Lung Cancer Immunotherapy Response via Circulating Tumor DNA

通过循环肿瘤DNA早期评估肺癌免疫治疗反应

Goldberg, Sarah B; Narayan, Azeet; Kole, Adam J; Decker, Roy H; Teysir, Jimmitti; Carriero, Nicholas J; Lee, Angela; Nemati, Roxanne; Nath, Sameer K; Mane, Shrikant M; Deng, Yanhong; Sukumar, Nitin; Zelterman, Daniel; Boffa, Daniel J; Politi, Katerina; Gettinger, Scott N; Wilson, Lynn D; Herbst, Roy S; Patel, Abhijit A