Schneider, Ronen; Shril, Shirlee; Buerger, Florian; Deutsch, Konstantin; Yousef, Kirollos; Frank, Camille N.; Onuchic-Whitford, Ana C.; Kitzler, Thomas M.; Mao, Youying; Klaembt, 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

Ciliopathy organoid models: a comprehensive review

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

IF4.7

2024-12-010

PRE

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

GENES & DISEASES

IF9.4

2024-09-010

OAAI

Deutsch, Konstantin; Klaembt, Verena; Kitzler, Thomas M.; Jobst-Schwan, Tilman; Schneider, Ronen; Buerger, Florian; Seltzsam, Steve; El Desoky, Sherif; Kari, Jameela A.; Hafeez, Farkhanda; Szczepanska, 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

GENETICS IN MEDICINE

IF6.2

2022-02-0116

OAAI

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; Klaembt, 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

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

人类ZNFX1缺乏症的多系统炎症和对病毒感染的易感性

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IF11.2

2021-08-0146

OAAI

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J.; Prader, Seraina; Gao, Xianfei; Schuch, Luise A.; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T.; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D.; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klambt, Verena; Soliman, Neveen A.; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Haffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Gungor, Tayfun; Buckley, Michael F.; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias; Schmid, Jana Pachlopnik

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

PRDM15突变是galloway-mowat综合征的新病因

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

IF9.4

2021-02-1615

Mann, Nina; Mzoughi, Slim; Schneider, Ronen; Kuhl, Susanne J.; Schanze, Denny; Klambt, Verena; Lovric, Svjetlana; Mao, Youying; Shi, Shasha; Tan, Weizhen; Kuhl, Michael; Onuchic-Whitford, Ana C.; Treimer, Ernestine; Kitzler, Thomas M.; Kause, Franziska; Schumann, Sven; Nakayama, Makiko; Buerger, Florian; Shril, Shirlee; van der Ven, Amelie T.; Majmundar, Amar J.; Holton, Kristina Marie; Kolb, Amy; Braun, Daniela A.; Rao, Jia; Jobst-Schwan, Tilman; Mildenberger, Eva; Lennert, Thomas; Kuechler, Alma; Wieczorek, Dagmar; Gross, Oliver; Ermisch-Omran, Beate; Werberger, Anja; Skalej, Martin; Janecke, Andreas R.; Soliman, Neveen A.; Mane, Shrikant M.; Lifton, Richard P.; Kadlec, Jan; Guccione, Ernesto; Schmeisser, Michael J.; Zenker, Martin; Hildebrandt, Friedhelm

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

KIDNEY INTERNATIONAL REPORTS

IF5.7

2021-02-017

OAAI

Mao, Youying; Schneider, Ronen; van der Ven, Peter F. M.; Assent, Marvin; Lohanadan, Keerthika; Klambt, Verena; Buerger, Florian; Kitzler, Thomas M.; Deutsch, Konstantin; Nakayama, Makiko; Majmundar, Amar J.; Mann, Nina; Hermle, Tobias; Onuchic-Whitford, Ana C.; Zhou, Wei; Margam, Nandini Nagarajan; Duncan, Roy; Marquez, Jonathan; Khokha, Mustafa; Fathy, Hanan M.; Kari, Jameela A.; El Desoky, Sherif; Eid, Loai A.; Awad, Hazem Subhi; Al-Saffar, Muna; Mane, Shrikant; Lifton, Richard P.; Fuerst, Dieter O.; Shril, Shirlee; Hildebrandt, Friedhelm

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

KIDNEY INTERNATIONAL REPORTS

IF5.7

2021-02-013

OAAI

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-02-0126

OAAI

Weng, Patricia L.; Majmundar, Amar J.; Khan, Kamal; Lim, Tze Y.; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F.; Aggarwal, Vimla S.; Bier, Louise E.; Heinzen, Erin L.; Onuchic-Whitford, Ana C.; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M.; Klambt, Verena; Kolb, Amy; Mao, Youying; El Achkar, Christelle Moufawad; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B.; Altmuller, Janine; Benz, Marcus R.; Yano, Shoji; Mikati, Mohamad A.; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S.; Martinez-Agosto, Julian A.; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda, V; Parboosingh, Jillian S.; Innes, A. Micheil; Bierzynska, Agnieszka; Koziell, Ania B.; Muorah, Mordi; Saleem, Moin A.; Hoefele, Julia; Riedhammer, Korbinian M.; Gharavi, Ali G.; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Mane, Shrikant; D'Agati, Vivette D.; Pollak, Martin R.; Ghiggeri, Gian Marco; Lifton, Richard P.; Goldstein, David B.; Davis, Erica E.; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

SCIENCE ADVANCES

IF12.5

2021-01-0125

OAAI

Majmundar, Amar J.; Buerger, Florian; Forbes, Thomas A.; Klambt, Verena; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M.; Howden, Sara E.; Scurr, Michelle; Tan, Ker Sin; Krzeminski, Mickael; Widmeier, Eugen; Braun, Daniela A.; Lai, Ethan; Ullah, Ihsan; Amar, Ali; Kolb, Amy; Eddy, Kaitlyn; Chen, Chin Heng; Salmanullah, Daanya; Dai, Rufeng; Nakayama, Makiko; Ottlewski, Isabel; Kolvenbach, Caroline M.; Onuchic-Whitford, Ana C.; Mao, Youying; Mann, Nina; Nabhan, Marwa M.; Rosen, Seymour; Forman-Kay, Julie D.; Soliman, Neveen A.; Heilos, Andreas; Kain, Renate; Aufricht, Christoph; Mane, Shrikant; Lifton, Richard P.; Shril, Shirlee; Little, Melissa H.; Hildebrandt, Friedhelm

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-12-0122

OAAI

Schneider, Ronen; Deutsch, Konstantin; Hoeprich, Gregory J.; Marquez, Jonathan; Hermle, Tobias; Braun, Daniela A.; Seltzsam, Steve; Kitzler, Thomas M.; Mao, Youying; Buerger, Florian; Majmundar, Amar J.; Onuchic-Whitford, Ana C.; Kolvenbach, Caroline M.; Schierbaum, Luca; Schneider, Sophia; Halawi, Abdul A.; Nakayama, Makiko; Mann, Nina; Connaughton, Dervla M.; Klambt, Verena; Wagner, Matias; Riedhammer, Korbinian M.; Renders, Lutz; Katsura, Yoshichika; Thumkeo, Dean; Soliman, Neveen A.; Mane, Shrikant; Lifton, Richard P.; Shril, Shirlee; Khokha, Mustafa K.; Hoefele, Julia; Goode, Bruce L.; Hildebrandt, Friedhelm

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

杂合FOXC1致病变体的表型扩展涉及肾脏和泌尿道的先天性异常 (CAKUT)

GENETICS IN MEDICINE

IF6.2

2020-10-0114

OAAI

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-10-0124

OAAI

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

A CRISPR-based assay for the detection of opportunistic infections post-transplantation and for the monitoring of transplant rejection

NATURE BIOMEDICAL ENGINEERING

IF26.6

2020-04-1381

PREAI

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

全外显子组测序将ATP6V1C2鉴定为隐性远端肾小管性酸中毒的新候选基因

KIDNEY INTERNATIONAL

IF12.6

2020-03-0143

OAAI

Verena Klämbt

个人简介

教育背景

工作经历

荣誉奖项

研究方向