NinaMannMD

PubMed

• 1 citations
  Recessive CHRM5 variant as a potential cause of neurogenic bladder.
  Sophia Schneider, Luca Schierbaum, Wessel A C Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng, Chen-Han Wilfred Wu, Makiko Nakayama, Dervla M Connaughton, Nina Mann,...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney.
  Luca M Schierbaum, Sophia Schneider, Florian Buerger, Abdul Aziz Halawi, Steve Seltzsam, Chunyan Wang, Bixia Zheng, Chen-Han Wilfried Wu, Rufeng Dai, Dervla M Connaugh...> ;Nephron. 2023 Jan 1
• 1 citations
  Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
  Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M Connaughton, Steve S...> ;Journal of the American Society of Nephrology. 2023 Feb 1
• 4 citations
  The effect of gender-affirming hormone treatment on serum creatinine in transgender and gender-diverse youth: implications for estimating GFR.
  Kate Millington, Ellis Barrera, Ankana Daga, Nina Mann, Johanna Olson-Kennedy, Robert Garofalo, Stephen M Rosenthal, Yee-Ming Chan> ;Pediatric Nephrology. 2022 Sep 1
• 1 citations
  Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
  Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen-Han Wilfred Wu, Camille Nicolas-Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Sc...> ;American Journal of Medical Genetics. Part A. 2022 May 1
• 10 citations
  Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
  Steve Seltzsam, Chunyan Wang, Bixia Zheng, Nina Mann, Dervla M. Connaughton, Chen-Han Wilfred Wu, Sophia Schneider, Luca Schierbaum, Franziska Kause, Caroline M. Kolve...> ;Genetics in Medicine. 2021 Nov 30
• 2 citations
  A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
  Bixia Zheng, Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Wilfred Wu, Rufeng Dai, Dervla M. Connaughton, Makiko Nakayama, Nina Mann, Stuart B. Baue...> ;American Journal of Medical Genetics. Part A. 2021 Sep 15
• 4 citations
  Whole exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
  Bixia Zheng, Steve Seltzsam, Chunyan Wang, Luca Schierbaum, Sophia Schneider, Chen-Han Wilfred Wu, Rufeng Dai, Dervla M. Connaughton, Makiko Nakayama, Nina Mann, Natas...> ;Nephrology, Dialysis, Transplantation. 2021 Sep 2
• 7 citations
  DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
  Deniz, E., Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie A. McGlynn, Han...> ;Journal of Medical Genetics. 2021 Jul 27
• 11 citations
  Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
  Nina Mann, Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt, Svjetlana Lovric, Youying Mao, Shasha Shi, Weizhen Tan, Michael Kühl, Ana C. O...> ;Journal of the American Society of Nephrology. 2021 Feb 16
• 7 citations
  Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
  Youying Mao, Ronen Schneider, Peter F.M. van der Ven, Marvin Assent, Keerthika Lohanadan, Verena Klämbt, Florian Buerger, Thomas M. Kitzler, Konstantin Deutsch, Makiko...> ;Kidney International Reports. 2021 Feb 1
• 1 citations
  Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.
  Verena Klämbt, Youying Mao, Ronen Schneider, Florian Buerger, Hanan E. Shamseldin, Ana C. Onuchic-Whitford, Konstantin Deutsch, Thomas M. Kitzler, Makiko Nakayama, Ama...> ;Kidney International Reports. 2021 Feb 1
• 12 citations
  De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
  Patricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Y Lim, Shirlee Shril, Gina Y. Jin, John Musgrove, Minxian Wang, Dina Ahram, Vimla Aggarwal, Louise Bier, Erin L. H...> ;American Journal of Human Genetics. 2021 Feb 4
• Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
  Verena Klämbt, Max Werth, Ana C. Onuchic-Whitford, Maike Getwan, Thomas M. Kitzler, Florian Buerger, Youying Mao, Konstantin Deutsch, Nina Mann, Amar J. Majmundar, Mic...> ;Nephrology, Dialysis, Transplantation. 2021 Jan 25
• A hemodialysis patient with difficulty ambulating: Answers.
  Nina Mann, Annemarie Fayemi, Melissa Myles, Nicole Kelley, Brian Carmine, Camilla A. Richmond, Avram Z. Traum> ;Pediatric Nephrology. 2021 Jan 20
• A hemodialysis patient with difficulty ambulating: Questions.
  Nina Mann, Annemarie Fayemi, Melissa Myles, Nicole Kelley, Brian Carmine, Camilla A. Richmond, Avram Z. Traum> ;Pediatric Nephrology. 2021 Jan 20
• 15 citations
  Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice
  Amar J. Majmundar, Florian Buerger, Thomas A. Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Sara E. Howden, Michelle Scurr, Ker Sin Ta...> ;Science Advances. 2021 Jan 1
• 17 citations
  Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
  Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Etienne Coyaud, Estelle M.N. Laurent, Jonatha...> ;American Journal of Human Genetics. 2020 Oct 1
• 18 citations
  Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
  Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Chunyan Wang, Verena Klä...> ;Genetics in Medicine. 2020 Jun 1
• 12 citations
  CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
  Nina Mann, Franziska Kause, Erik Henze, Anant Gharpure, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Verena Klämbt, Amar J. Majmundar, Chen Han W. Wu, Caroli...> ;American Journal of Human Genetics. 2019 Dec 5
• 15 citations
  Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome
  Ashish K. Solanki, Eugen Widmeier, Ehtesham Arif, Shailza Sharma, Ankana Daga, Pankaj Srivastava, Sang Ho Kwon, Hannah Hugo, Makiko Nakayama, Nina Mann, Amar J. Majmun...> ;Kidney International. 2019 Oct 1
• 11 citations
  COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
  Thomas M. Kitzler, Ronen Schneider, Stefan Kohl, Caroline M. Kolvenbach, Dervla M. Connaughton, Rufeng Dai, Nina Mann, Makiko Nakayama, Amar J. Majmundar, Chen-Han W. ...> ;Human Genetics. 2019 Jun 22
• 131 citations
  Monogenic causes of chronic kidney disease in adults.
  Dervla M. Connaughton, Claire Kennedy, Shirlee Shril, Nina Mann, Susan L. Murray, Patrick Williams, Eoin T. Conlon, Makiko Nakayama, Amelie T. van der Ven, Hadas Ityel...> ;Kidney International. 2019 Apr 1
• 78 citations
  Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
  Nina Mann, Daniela A. Braun, Kassaundra Amann, Weizhen Tan, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Ronen Schneider, Thomas M. Kitzler, Amelie T. van de...> ;Journal of the American Society of Nephrology. 2019 Feb 1
• 113 citations
  Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
  Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw-Yang Hwang, Julian Schulz, Daniela A. Braun, Johann...> ;Journal of the American Society of Nephrology. 2018 Sep 1
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Journal Articles

• Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract  
  Deborah R Stein, Friedhelm Hildebrandt, Richard P Lifton, Amar J Majmundar, Nina Mann, Jillian K Warejko, Michelle A Baum, Asaf Vivante, Nancy M Rodig, Jing Chen, Mich..., Journal of the American Society of Nephrology