FriedhelmHildebrandtMD

PubMed

• The evolving landscape of monogenic nephrolithiasis and therapeutic innovations.
  Yu-Ren Huang, Fredrick R Schumacher, Chen-Han Wilfred Wu, Donald Bodner, Michelle Baum, Friedhelm Hildebrandt> ;Nature Reviews. Urology. 2024 Apr 17
• Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
  Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England, Julia Goodrich...> ;American Journal of Human Genetics. 2024 Mar 27
• Quantitative phenotyping ofknockout mice as a prerequisite for gene replacement studies.
  Florian Buerger, Lea M Merz, Ken Saida, Seyoung Yu, Daanya Salmanullah, Katharina Lemberg, Nils D Mertens, Bshara Mansour, Caroline M Kolvenbach, Kirollos Yousef, Alin...> ;American Journal of Physiology. Renal Physiology. 2024 Mar 14
• Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
  Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
• Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
  Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Nurit Assia Batzir, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysan...> ;Kidney International. 2024 Apr 1
• 3 citations
  Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
  Yask Gupta, David J Friedman, Michelle T McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L Knob, Tze Y Lim, Gerald B Appel, ...> ;Nature Communications. 2023 Nov 30
• 2 citations
  Nephronophthisis: a pathological and genetic perspective.
  Matthias T F Wolf, Stephen M Bonsib, Christopher P Larsen, Friedhelm Hildebrandt> ;Pediatric Nephrology. 2023 Nov 6
• Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
  Agrawal, P. B., Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England...> ;Medrxiv. 2023 Oct 5
• Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
  Dalia Pantel, Nils D Mertens, Ronen Schneider, Selina Hölzel, Jameela A Kari, Sherif El Desoky, Mohamed A Shalaby, Tze Y Lim, Simone Sanna-Cherchi, Shirlee Shril, Frie...> ;Pediatric Nephrology. 2024 Feb 1
• 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
• 4 citations
  The genetics and pathogenesis of CAKUT.
  Caroline M Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt> ;Nature Reviews. Nephrology. 2023 Nov 1
• 2 citations
  LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus.
  Dong Yun Kim, Yu Jin Sub, Hye-Youn Kim, Kyeong Jee Cho, Won Il Choi, Yo Jun Choi, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee> ;Cell Communication and Signaling. 2023 Jun 16
• 5 citations
  Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
  Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F Ahram, Ade...> ;Nature Communications. 2023 Apr 29
• 1 citations
  Implication ofdysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
  Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysanthou, Zeineb Bakey, ...> ;Medrxiv. 2023 Mar 22
• 1 citations
  Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.
  Samar Atef Elshafey, Mohamed Alaa Eldin Hassan Thabet, Reham Abdel Haleem Abo Elwafa, Ronen Schneider, Shirlee Shril, Florian Buerger, Friedhelm Hildebrandt, Hanan M F...> ;Acta Paediatrica. 2023 Jun 1
• A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
  Caroline M Kolvenbach, Bixia Zheng, Lea M Merz, Nils D Mertens, Bshara Mansour, Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Dalia Pantel, Jing Che...> ;American Journal of Medical Genetics. Part A. 2023 May 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
  Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.
  Seyoung Yu, Yo Jun Choi, John Hoon Rim, Hye-Youn Kim, Nasim Bekheirnia, Sarah Jane Swartz, Hongzheng Dai, Shen Linda Gu, Soyeon Lee, Ryuichi Nishinakamura, Friedhelm H...> ;Frontiers in Medicine. 2023 Jan 1
• 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
• 1 citations
  X-linked variations inare implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
  Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tob...> ;Journal of Medical Genetics. 2023 Jun 1
• 2 citations
  Steroid-Resistant Nephrotic Syndrome-AssociatedMutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.
  Pei-Ju Liu, Laura K Gunther, Michael E Garone, Chunling Zhang, Diana Perez, Jing Bi-Karchin, Christopher D Pellenz, Sharon E Chase, Maria F Presti, Eric L Plante, Clai...> ;Journal of the American Society of Nephrology. 2022 Nov 1
• 2 citations
  Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
  Chen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M Connaughton, Makiko Nakayama, Amelie ...> ;European Urology Open Science. 2022 Oct 1
• 6 citations
  Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.
  Dervla M Connaughton, Friedhelm Hildebrandt> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Sep 1
• 5 citations
  Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation.
  Yuzuru Sasamoto, Catherine A A Lee, Brian J Wilson, Florian Buerger, Gabrielle Martin, Ananda Mishra, Shoko Kiritoshi, Johnathan Tran, Gabriel Gonzalez, Friedhelm Hild...> ;Cell Reports. 2022 Aug 9
• Join now to see all

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

Lectures

• Linking Genotype to Phenotype in the Age of Big Data 
  American Society of Nephrology Kidney Week 2019 - Washington, D.C. - 11/7/2019