ColleenElizabeth(Forsyth)MacmurdoDO

PubMed

• The Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narc...
  Roby, P., Smith Beltran, G., Finch, C., Malhotra, S., Reiling, K., Raju, M., Hernandez, E., Dayyat, E., Birkemeier, K., Macmurdo, C., Sagar, M.> ;Cureus. 2023 Dec 1
• Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.
  Christina F. Jack, Krista L. Birkemeier, Jose M. Santiago, Colleen F. Macmurdo, Matthew Crisp> ;Pediatric Radiology. 2021 Mar 12
• Persistent hyperkalemia in an otherwise healthy 4-month-old female: Answers.
  Grace Yu, Faris Hashim, Colleen Macmurdo, Christian Hanna> ;Pediatric Nephrology. 2020 Nov 1
• Persistent hyperkalemia in an otherwise healthy 4-month-old female: Questions.
  Grace Yu, Faris Hashim, Colleen Macmurdo, Christian Hanna> ;Pediatric Nephrology. 2020 Nov 1
• 11 citations
  Expanding the clinical and genetic spectrum of PCYT2-related disorders.
  Valentina Vélez-Santamaría, Edgard Verdura, Colleen F. Macmurdo, Laura Planas-Serra, Agatha Schlüter, Josefina Casas, Juan José Martínez, Carlos Casasnovas, Yue Si, St...> ;Brain. 2020 Sep 1
• 4 citations
  Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
  John E. Richter, Michael T. Zimmermann, Patrick R. Blackburn, Ahmed N. Mohammad, Eric W. Klee, Laura M. Pollard, Colleen F. Macmurdo, Paldeep S. Atwal, Thomas R. Caulf...> ;Molecular Genetics & Genomic Medicine. 2018 Sep 5
• 2 citations
  Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
  Michael T. Zimmermann, Raul Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen F. Macmurdo, Paldeep S. Atwal> ;Case Reports in Genetics. 2017 Jan 9
• 175 citations
  Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
  Ghayda M. Mirzaa, Catarina D. Campbell, Nadia Solovieff, Carleton Goold, Laura A. Jansen, Suchithra Menon, Andrew E. Timms, Valerio Conti, Jonathan D. Biag, Carissa Ol...> ;JAMA Neurology. 2016 Jul 1
• 67 citations
  RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
  Colleen F. Macmurdo, Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, Jenny Le, Matthew B. Wallenstein, Carlos Milla, Joyce M.C. Teng, Jonathan A. Bernstein, David A...> ;American Journal of Medical Genetics. Part A. 2016 Jun 1
• 1 citations
  A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome
  Paldeep S. Atwal, Colleen F. Macmurdo> ;Journal of Pediatric Genetics. 2015 Oct 14
• 8 citations
  Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease.
  Paldeep S. Atwal, C. Macmurdo, Paul C. Grimm> ;Molecular Genetics and Metabolism Reports. 2015 Sep 1
• 99 citations
  De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
  Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary S. Willis, Colleen F. Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthélémy, ...> ;American Journal of Human Genetics. 2015 Mar 5
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