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

Protocol for a multicenter observational study on fatigue across physical-mental conditions within the German center for mental health

德国心理健康中心关于身心状况下疲劳的多中心观察性研究方案

Erschens, R; Zipfel, S; Bentele, M; Adam, S H; Schröpel, C; Heitmann, H; Binneböse, M; Zimmermann-Schlegel, V; Reichert, J; Rometsch, C; Ottlewski, I; Schappert, A; Friederich, H-C; Gündel, H; Rose, M; Tesarz, J; Junne, F; Henningsen, P; Stengel, A

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

OXGR1是人类草酸钙肾结石的候选致病基因

Majmundar, Amar J; Widmeier, Eugen; Heneghan, John F; Daga, Ankana; Wu, Chen-Han Wilfred; Buerger, Florian; Hugo, Hannah; Ullah, Ihsan; Amar, Ali; Ottlewski, Isabel; Braun, Daniela A; Jobst-Schwan, Tilman; Lawson, Jennifer A; Zahoor, Muhammad Yasir; Rodig, Nancy M; Tasic, Velibor; Nelson, Caleb P; Khaliq, Shagufta; Schönauer, Ria; Halbritter, Jan; Sayer, John A; Fathy, Hanan M; Baum, Michelle A; Shril, Shirlee; Mane, Shrikant; Alper, Seth L; 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

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis

对巴基斯坦结石患者的CaSR基因座进行测序,发现了一种新的功能缺失变异,该变异与肾结石异常相关。

Ullah, Ihsan; Ottlewski, Isabel; Shehzad, Wasim; Riaz, Amjad; Ijaz, Sadaqat; Tufail, Asad; Ammara, Hafiza; Mane, Shrikant; Shril, Shirlee; Hildebrandt, Friedhelm; Zahoor, Muhammad Yasir; Majmundar, Amar J

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

全外显子组测序鉴定出ATP6V1C2是隐性远端肾小管酸中毒的新候选基因。

Jobst-Schwan, Tilman; Klämbt, Verena; Tarsio, Maureen; Heneghan, John F; Majmundar, Amar J; Shril, Shirlee; Buerger, Florian; Ottlewski, Isabel; Shmukler, Boris E; Topaloglu, Rezan; Hashmi, Seema; Hafeez, Farkhanda; Emma, Francesco; Greco, Marcella; Laube, Guido F; Fathy, Hanan M; Pohl, Martin; Gellermann, Jutta; Milosevic, Danko; Baum, Michelle A; Mane, Shrikant; Lifton, Richard P; Kane, Patricia M; Alper, Seth L; Hildebrandt, Friedhelm

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

转录共抑制因子ZMYM2的突变导致综合征性泌尿道畸形

Dervla M Connaughton,Rufeng Dai,Danielle J Owen,Jonathan Marquez,Nina Mann,Adda L Graham-Paquin,Makiko Nakayama,Etienne Coyaud,Estelle M N Laurent,Jonathan R St-Germain,Lot Snijders Blok,Arianna Vino,Verena Klämbt,Konstantin Deutsch,Chen-Han Wilfred Wu,Caroline M Kolvenbach,Franziska Kause,Isabel Ottlewski,Ronen Schneider,Thomas M Kitzler,Amar J Majmundar,Florian Buerger,Ana C Onuchic-Whitford,Mao Youying,Amy Kolb,Daanya Salmanullah,Evan Chen,Amelie T van der Ven,Jia Rao,Hadas Ityel,Steve Seltzsam,Johanna M Rieke,Jing Chen,Asaf Vivante,Daw-Yang Hwang,Stefan Kohl,Gabriel C Dworschak,Tobias Hermle,Mariëlle Alders,Tobias Bartolomaeus,Stuart B Bauer,Michelle A Baum,Eva H Brilstra,Thomas D Challman,Jacob Zyskind,Carrie E Costin , Katrina M Dipple , Floor A Duijkers , Marcia Ferguson , David R Fitzpatrick , Roger Fick , Ian A Glass , Peter J Hulick , Antonie D Kline , Ilona Krey , Selvin Kumar , Weining Lu , Elysa J Marco , Ingrid M Wentzensen,Heather C Mefford , Konrad Platzer,Inna S Povolotskaya , Juliann M Savatt,Natalia V Shcherbakova , Prabha Senguttuvan , Audrey E Squire , Deborah R Stein,Isabelle Thiffault , Victoria Y Voinova , Michael J G Somers,Michael A Ferguson,Avram Z Traum,Ghaleb H Daouk,Ankana Daga,Nancy M Rodig,Paulien A Terhal,Ellen van Binsbergen,Loai A Eid , Velibor Tasic , Hila Milo Rasouly , Tze Y Lim , Dina F Ahram , Ali G Gharavi , Heiko M Reutter , Heidi L Rehm , Daniel G MacArthur , Monkol Lek , Kristen M Laricchia , Richard P Lifton , Hong Xu,Shrikant M Mane , Simone Sanna-Cherchi , Andrew D Sharrocks,Brian Raught,Simon E Fisher , Maxime Bouchard,Mustafa K Khokha,Shirlee Shril,Friedhelm Hildebrandt

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

杂合FOXC1致病变异的表型扩展,导致先天性肾脏和泌尿道畸形(CAKUT)的发生

Wu, Chen-Han Wilfred; Mann, Nina; Nakayama, Makiko; Connaughton, Dervla M; Dai, Rufeng; Kolvenbach, Caroline M; Kause, Franziska; Ottlewski, Isabel; Wang, Chunyan; Klämbt, Verena; Seltzsam, Steve; Lai, Ethan W; Selvin, Aravind; Senguttuva, Prabha; Bodamer, Olaf; Stein, Deborah R; El Desoky, Sherif; Kari, Jameela A; Tasic, Velibor; Bauer, Stuart B; Shril, Shirlee; Hildebrandt, Friedhelm