HadasItyelMD

PubMed

• 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
• 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
• 46 citations
  Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2019 Aug 1
• 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
• 112 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
• 4 citations
  A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
  Amelie T. van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M. Conn...> ;Plos One. 2018 Jan 19
• 130 citations
  Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
  Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst-...> ;Clinical Journal of the American Society of Nephrology. 2018 Jan 6
• 27 citations
  Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
  Asaf Vivante, Hadas Ityel, Ben Pode-Shakked, Jing Chen, Shirlee Shril, Amelie T. van der Ven, Nina Mann, Johanna Magdalena Schmidt, Reeval Segel, Adi Aran, Avraham Zeh...> ;Pediatric Nephrology. 2017 Aug 5
• 34 citations
  A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
  Asaf Vivante, Nina Mann, Hagith Yonath, Anna Carina Weiss, Maike Getwan, Michael M. Kaminski, Tobias Bohnenpoll, Catherine Teyssier, Jing Chen, Shirlee Shril, Amelie T...> ;Journal of the American Society of Nephrology. 2017 Aug 1
• 6 citations
  Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.
  Amelie T. van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Kristen M. Laricchia, Monkol Lek, Velibor Tasic, Friedhelm Hildebrandt> ;Molecular Syndromology. 2017 Jul 1
• 65 citations
  A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency
  Inbal Lasry, Young Ah Seo, Hadas Ityel, Nechama Shalva, Ben Pode-Shakked, Fabian Glaser, Bluma Berman, Igor N. Berezovsky, Alexander Goncearenco, Aharon Klar, Jacob Le...> ;The Journal of Biological Chemistry. 2012 Aug 24
• 3 citations
  Splenic torsion of a wandering spleen.
  Hadas Ityel, Yoav Granot, Hananya Vaknine, Arie Judich, Mordechai Shimonov> ;The Israel Medical Association Journal. 2011 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