Nina Mann

Harvard University

H指数:21

被引数:2,567

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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The structure of amyloid-β (1–42) oligomers in membrane-mimetic environments

淀粉样蛋白-β (1–42) 寡聚体在类膜环境中的结构

Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy

IF0

2025-08-270

PREAI

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

Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective

下一代肾病学：第二部分——将基因组学融入肾病学的主流，全球视角

PEDIATRIC NEPHROLOGY

IF2.6

2025-02-280

Advancing the state of the art in congenital obstructive uropathy

NATURE REVIEWS UROLOGY

IF14.6

2024-11-290

PRE

A superclinic model for tackling skin cancer referrals

CLINICAL AND EXPERIMENTAL DERMATOLOGY

IF2.8

2024-02-140

PRE

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

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

IF9.4

2023-11-222

Klaembt, Verena; Buerger, Florian; Wang, Chunyan; Naert, Thomas; Richter, Karin; Nauth, Theresa; Weiss, Anna-Carina; Sieckmann, Tobias; Lai, Ethan; Connaughton, Dervla M.; Seltzsam, Steve; Mann, Nina; Majmundar, Amar J.; Wu, Chen-Han W.; Onuchic-Whitford, Ana C.; Shril, Shirlee; Schneider, Sophia; Schierbaum, Luca; Dai, Rufeng; Bekheirnia, Mir Reza; Joosten, Marieke; Shlomovitz, Omer; Vivante, Asaf; Banne, Ehud; Mane, Shrikant; Lifton, Richard P.; Kirschner, Karin M.; Kispert, Andreas; Rosenberger, Georg; Fischer, Klaus-Dieter; Lienkamp, Soeren S.; Zegers, Mirjam M. P.; Hildebrandt, Friedhelm

Categorization of a Universal Coding System to Distinguish Use of Durable Medical Equipment and Supplies in Pediatric Patients

JAMA NETWORK OPEN

IF9.7

2023-10-241

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

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

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-07-0611

OAAI

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

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

狭缝隔膜组件KIRREL1的突变导致类固醇耐药的肾病综合征

KIDNEY INTERNATIONAL

IF12.6

2019-10-0123

OAAI

Nina Mann

个人简介

教育背景

工作经历

荣誉奖项

研究方向