Caroline M. Kolvenbach

boston childrens hospital

H指数:13

被引数:945

个人简介

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教育背景

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工作经历

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荣誉奖项

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Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome

Pediatric Nephrology

IF2.6

2026-01-230

PRE

Bshara Mansour; Katharina Lemberg; Ronen Schneider; Ken Saida; Izzeldin Elmubarak; Seyoung Yu; Kirollos Yousef; Camille Nicolas Frank; Korbinian M. Riedhammer; Muhammad Yasir Zahoor; Caroline M. Kolvenbach; Lea M. Merz; Nils D. Mertens; Aaron Bao; Daanya Salmanullah; Gina Kalkar; Selina Hölzel; Elena Zion; Daniel Marchuk; Kraisoon Lomjansook; Alina Braun; Gijs A. C. Franken; Loai A. Eid; Hazem Subhi H. Awad; Muna Al Saffar; Neveen A. Soliman; Marwa M. Nabhan; Jameela A. Kari; Sherif El Desoky; Mohamed A. Shalaby; Said Ooda; Hanan M. Fathy; Shrikant Mane; Shirlee Shril; Michael J. G. Somers; Florian Buerger; Friedhelm Hildebrandt

Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele

ABL1基因功能缺失与显性孤立性脐膨出相关

Frontiers in Cell and Developmental Biology

IF4.3

2025-08-060

Exome sequencing in Saudi Arabian pediatric kidney disease single-center cohort

沙特阿拉伯儿科肾脏病单中心队列的外显子测序

Kidney International Reports

IF5.7

2025-07-140

OAAI

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

使用三外显子组测序扩展新候选基因的范围，并在320个激素抵抗性肾病综合征家庭的27.5% 中鉴定单基因病因

GENES & DISEASES

IF9.4

2025-03-011

OAAI

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

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

SCIENTIFIC REPORTS

IF3.9

2024-07-100

OAAI

Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY

IF3.4

2024-05-010

PRE

The genetics and pathogenesis of CAKUT

NATURE REVIEWS NEPHROLOGY

IF39.8

2023-07-3120

PRE

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-11-152

OAAI

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

EUROPEAN UROLOGY OPEN SCIENCE

IF4.5

2022-10-017

OAAI

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

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

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

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-12-0117

OAAI

Mann, Nina; Kause, Franziska; Henze, Erik K.; Gharpure, Anant; Shril, Shirlee; Connaughton, Dervla M.; Nakayama, Makiko; Klambt, 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

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

HUMAN GENETICS

IF3.6

2019-06-2218

OAAI

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout

皮质类固醇治疗在magi2a基因敲除的斑马鱼模型中加剧肾病综合征

KIDNEY INTERNATIONAL

IF12.6

2019-05-0110

OAAI

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-05-0124

OAAI

Kolvenbach, Caroline M.; Dworschak, Gabriel C.; Frese, Sandra; Japp, Anna S.; Schuster, Peggy; Wenzlitschke, Nina; Yilmaz, Oeznur; Lopes, Filipa M.; Pryalukhin, Alexey; Schierbaum, Luca; van der Zanden, Loes F. M.; Kause, Franziska; Schneider, Ronen; Taranta-Janusz, Katarzyna; Szczepanska, Maria; Pawlaczyk, Krzysztof; Newman, William G.; Beaman, Glenda M.; Stuart, Helen M.; Cervellione, Raimondo M.; Feitz, Wouter F. J.; van Rooij, Iris A. L. M.; Schreuder, Michiel F.; Steffens, Martijn; Weber, Stefanie; Merz, Waltraut M.; Feldkoetter, Markus; Hoppe, Bernd; Thiele, Holger; Altmueller, Janine; Berg, Christoph; Kristiansen, Glen; Ludwig, Michael; Reutter, Heiko; Woolf, Adrian S.; Hildebrandt, Friedhelm; Grote, Phillip; Zaniew, Marcin; Odermatt, Benjamin; Hilger, Alina C.

Monogenic causes of chronic kidney disease in adults

成人慢性肾脏疾病的单基因病因

KIDNEY INTERNATIONAL

IF12.6

2019-04-01169

OAAI

Connaughton, Deryla M.; Kennedy, Claire; Shrill, Shirlee; Mann, Nina; Murray, Susan L.; Williams, Patrick A.; Conlon, Eoin; Nakayama, Makiko; van der Ven, Amelie T.; Ityel, Hadas; Kause, Franziska; Kolvenbach, Caroline M.; Dai, Rufeng; Vivante, Asaf; Braun, Daniela A.; Schneider, Ronen; Kitzler, Thomas M.; Moloney, Brona; Moran, Conor P.; Smyth, John S.; Kennedy, Alan; Benson, Katherine; Stapleton, Caragh; Denton, Mark; Magee, Coim; O'Seaghdha, Conall M.; Plant, William D.; Griffin, Matthew D.; Awan, Atif; Sweeney, Clodagh; Mane, Shrikant M.; Lifton, Richard P.; Griffin, Brenda; Leavey, Sean; Casserly, Liam; de Freitas, Declan G.; Holian, John; Dorman, Anthony; Doyle, Brendan; Lavin, Peter J.; Little, Mark A.; Conlon, Peter J.; Hildebrandt, Friedhelm

Caroline M. Kolvenbach

个人简介

教育背景

工作经历

荣誉奖项

研究方向