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

Genetic Contributions to Lower Urinary Tract Dysfunction

遗传因素对下尿路功能障碍的影响

Lilian R Hiltebeitel ,Steve Seltzsam ,Chunyan Wang ,Ted Lee ,Leah Bolsius ,Mohamed Shalaby ,Sherif El Desoky ,Jameela A Kari ,Shirlee Shril ,Friedhelm Hildebrandt ,Nina Mann

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

利用三重外显子组测序扩大了候选基因的范围,并在320个激素抵抗性肾病综合征家族中27.5%的病例中鉴定出单基因病因。

Schneider, Ronen; Shril, Shirlee; Buerger, Florian; Deutsch, Konstantin; Yousef, Kirollos; Frank, Camille N; Onuchic-Whitford, Ana C; Kitzler, Thomas M; Mao, Youying; Klämbt, Verena; Zahoor, Muhammad Y; Lemberg, Katharina; Majmundar, Amar J; Mansour, Bshara; Saida, Ken; Seltzsam, Steve; Kolvenbach, Caroline M; Merz, Lea Maria; Mertens, Nils D; Hermle, Tobias; Mann, Nina; Pantel, Dalia; Halawi, Abdul A; Bao, Aaron; Schierbaum, Luca; Schneider, Sophia; Salmanullah, Daanya; Ben-Dov, Iddo Z; Sagiv, Itamar; Eid, Loai A; Awad, Hazem Subhi H; Al Saffar, Muna; Soliman, Neveen A; Nabhan, Marwa M; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohamed A; Ooda, Said; Fathy, Hanan M; Mane, Shrikant; Lifton, Richard P; Somers, Michael J G; Hildebrandt, Friedhelm

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

CELSR3 中的双等位基因变异与中枢神经系统和泌尿道异常有关

Jil D Stegmann #, Jeshurun C Kalanithy #, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Mye

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

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

ARHGEF6 基因变异导致人类、小鼠和青蛙出现肾脏和泌尿道先天性异常

Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M Connaughton, Steve Seltzsam, Nina Mann, Amar J Majmundar, Chen-Han W Wu, Ana C Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

利用现有的人类胎儿肾脏单细胞转录组学数据,对肾脏和泌尿道单基因先天性异常候选基因进行优先排序

Schierbaum, Luca M; Schneider, Sophia; Buerger, Florian; Halawi, Abdul Aziz; Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Wu, Chen-Han Wilfried; Dai, Rufeng; Connaughton, Dervla M; Salmanullah, Daanya; Nakayama, Makiko; Mann, Nina; Shril, Shirlee; Hildebrandt, Friedhelm

Recessive CHRM5 variant as a potential cause of neurogenic bladder

隐性CHRM5变异可能是神经源性膀胱的潜在病因

Schneider, Sophia; Schierbaum, Luca; Burger, Wessel A C; Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Wu, Chen-Han Wilfred; Nakayama, Makiko; Connaughton, Dervla M; Mann, Nina; Shalaby, Mohamed A; Kari, Jameela A; ElDesoky, Sherif; Tasic, Velibor; Eid, Loai A; Shril, Shirlee; Thal, David M; 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

Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

全外显子组测序鉴定出FOXL2、FOXA2和FOXA3是肾脏和泌尿道单基因先天性异常的候选基因。

Zheng, Bixia; Seltzsam, Steve; Wang, Chunyan; Schierbaum, Luca; Schneider, Sophia; Wu, Chen-Han Wilfred; Dai, Rufeng; Connaughton, Dervla M; Nakayama, Makiko; Mann, Nina; Stajic, Natasa; Mane, Shrikant; Bauer, Stuart B; Tasic, Velibor; Nam, Hyun Joo; Shril, Shirlee; Hildebrandt, Friedhelm