AmarMajmundarMDPhD

PubMed

• OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
  Amar J Majmundar, Eugen Widmeier, John F Heneghan, Ankana Daga, Chen-Han Wilfred Wu, Florian Buerger, Hannah Hugo, Ihsan Ullah, Ali Amar, Isabel Ottlewski, Daniela A B...> ;Genetics in Medicine. 2023 Mar 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
• Activation of 2-oxoglutarate receptor 1 (OXGR1) by α-ketoglutarate (αKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes.
  John F Heneghan, Amar J Majmundar, Alicia Rivera, Jay G Wohlgemuth, Jeffrey S Dlott, L Michael Snyder, Friedhelm Hildebrandt, Seth L Alper> ;Physiological Reports. 2022 Jul 1
• A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.
  Reema Habiby, Daniel G Bichet, Marie-Francoise Arthus, Dervia Connaughton, Shirlee Shril, Shrikant Mane, Amar J Majmundar, Friedhelm Hildebrandt, Gary L Robertson> ;The Journal of Clinical Endocrinology and Metabolism. 2022 May 17
• 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
  Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
  Ihsan Ullah, Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail, Hafiza Ammara, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Muhammad Yasir...> ;BMC Medical Genomics. 2021 Nov 12
• 10 citations
  Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
  Chaozhe Yang, Naoe Harafuji, Amber K. O'Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun, Monkol Lek, Kristen M. Laricchia, Hanan M. Fa...> ;Scientific Reports. 2021 Sep 14
• 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
• 14 citations
  A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
  Diane D. Shao, Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill, Richard S. Smith, Amar J. Majmundar, Najim Ameziane, Jennifer E. Neil, Edward Ya...> ;Genetics in Medicine. 2021 Feb 2
• 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
• 11 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
• 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
• 36 citations
  Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
  Tilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, John F. Heneghan, Amar J. Majmundar, Shirlee Shril, Florian Buerger, Isabel Ottlewski, Boris E. Shmukler, Rezan Top...> ;Kidney International. 2020 Mar 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
• 30 citations
  Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
  Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi ...> ;Pediatric Rheumatology Online Journal. 2019 Jul 30
• 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
• 7 citations
  Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.
  Tilman Jobst-Schwan, Charlotte A. Hoogstraten, Caroline M. Kolvenbach, Johanna Magdalena Schmidt, Amy Kolb, Kaitlyn Eddy, Ronen Schneider, Shazia Ashraf, Eugen Widmeie...> ;Kidney International. 2019 May 1
• 12 citations
  Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
  David Schapiro, Ankana Daga, Jennifer A. Lawson, Amar J. Majmundar, Svjetlana Lovric, Weizhen Tan, Jillian K. Warejko, Inés Fessi, Jia Rao, Merlin Airik, Heon Yung Gee...> ;Nephrology, Dialysis, Transplantation. 2019 Mar 1
• 19 citations
  Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
  Daniela A. Braun, Jillian K. Warejko, Shazia Ashraf, Weizhen Tan, Ankana Daga, Ronen Schneider, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J. Majmundar, ...> ;Nephrology, Dialysis, Transplantation. 2019 Mar 1
• 25 citations
  Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
  Ali Amar, Amar J. Majmundar, Ihsan Ullah, Ayesha Afzal, Daniela A. Braun, Shirlee Shril, Ankana Daga, Tilman Jobst-Schwan, Mumtaz Ahmad, John A. Sayer, Heon Yung Gee, ...> ;Human Genetics. 2019 Feb 18
• 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
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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
• Mutations in WDR4 as a New Cause of Galloway–Mowat Syndrome  
  Amar J Majmundar, Jillian K Warejko, Jing Chen, Friedhelm Hildebrandt, Ankana Daga, American Journal of Medical Genetics Part A
• GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome  
  Jillian K Warejko, Friedhelm Hildebrandt, Amar J Majmundar, Heidi L Rehm, Richard P Lifton, Laura S Finn, Ankana Daga, Journal of the American Society of Nephrology