DamaraOrtizMD

PubMed

• 3 citations
  Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised p...
  Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam ...> ;Journal of Medical Genetics. 2023 Nov 8
• 13 citations
  Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
  Najim Lahrouchi, Alex V. Postma, Christian M. Salazar, Daniel M. de Laughter, Fleur V.Y. Tjong, Lenka Piherová, Forrest Z. Bowling, Dominic S Zimmerman, Elisabeth M. L...> ;The Journal of Clinical Investigation. 2021 Mar 1
• 22 citations
  Newborn Screening for Pompe Disease: Pennsylvania Experience.
  Can Ficicioglu, Rebecca C. Ahrens-Nicklas, Joshua, Sanmati Cuddapah, Brenda S DiBoscio, James C. DiPerna, Patricia L Gordon, Nadene Henderson, Caitlin Menello, Nicole ...> ;International Journal of Neonatal Screening. 2020 Nov 13
• 2 citations
  Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
  Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan H. Baugh, Amber Begtrup, Caleb Bupp, Bert Callewaert...> ;Genetics in Medicine. 2021 Feb 1
• 2 citations
  Copy number alterations involving 59 ACMG‐recommended secondary findings genes
  Mahmoud Aarabi, Jie Hu, Urvashi Surti, Damara Ortiz, Suneeta Madan-Khetarpal, Devereux N. Saller, Daniel B. Bellissimo, Aleksandar Rajkovic> ;Clinical Genetics. 2020 Oct 10
• 35 citations
  Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.
  Ulla Feldt-Rasmussen, Derralynn Hughes, Gere Sunder-Plassmann, Suma P. Shankar, Khan Nedd, Iacopo Olivotto, Damara Ortiz, Toya Ohashi, Takashi Hamazaki, Nina Skuban, J...> ;Molecular Genetics and Metabolism. 2020 Sep 1
• 16 citations
  De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
  Dara Tolchin, Jessica P. Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A. Martinez-Agosto, Abdul Haseeb, Marco Angelozzi, Gijs W. E. Santen, Clau...> ;American Journal of Human Genetics. 2020 Jun 4
• 13 citations
  Primrose syndrome: Characterization of the phenotype in 42 patients
  Daniela Melis, Daniel R. Carvalho, Tina Barbaro-Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne B Hove, Sandra J...> ;Clinical Genetics. 2020 Jun 1
• 6 citations
  Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
  Caitlin M. Burk, Kara Coffey, Emily M. Mace, Bret L. Bostwick, Ivan K. Chinn, Zeynep Coban-Akdemir, Shalini N. Jhangiani, James R. Lupski, Damara Ortiz, Jessie L. Barn...> ;The Journal of Allergy and Clinical Immunology. in Practice. 2020 Mar 1
• Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allel...
  Zhishuo Z Ou, Sally J. Kochmar, Svetlana A. Yatsenko, Audrey C Woerner, Roxanne Acquaro, Damara Ortiz, Urvashi Surti, Jie Hu> ;Cytogenetic and Genome Research. 2018 Oct 5
• 34 citations
  IRF2BPL Is Associated with Neurological Phenotypes.
  Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H Chen, Pat...> ;American Journal of Human Genetics. 2018 Sep 6
• 22 citations
  IRF2BPL Is Associated with Neurological Phenotypes.
  Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H Chen, Pat...> ;American Journal of Human Genetics. 2018 Aug 2
• 12 citations
  A case of de novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome).
  Vinod Valentine, Yoshimi Sogawa, Deepa S. Rajan, Damara Ortiz> ;Seizure. 2018 Aug 1
• 6 citations
  De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
  Magalie S. Leduc, Marianne McGuire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan J. Hayflick, Kory Keller, Christine M. Eng, Yaping Yang, Weimin Bi> ;Human Genetics. 2018 Mar 19
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