Publications by authors named "Colleen Macmurdo"

Claim this Profile
L
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Colleen Macmurdo

Ann Neurol· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Unusual radiographic progression of tumoral calcinosis along the anterior cruciate ligament in an adolescent male.
Adiba Perkins, Kurren Desai, Bradley Trotter, Russell Ward, Gregory Sprowls, Colleen Macmurdo

Proc (Bayl Univ Med Cent)· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor.
Paul Roby, Gretta Smith Beltran, Casey Finch, Sonal Malhotra, Krista Reiling, Colleen Macmurdo

Cureus· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss-of-function variants in cause a syndromic neurodevelopmental disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Colleen Macmurdo

medRxiv· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.
Christina F Jack, Krista L Birkemeier, Jose M Santiago, Colleen F Macmurdo, Matthew B Crisp

Pediatr Radiol· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Persistent hyperkalemia in an otherwise healthy 4-month-old female: Questions.
Grace Yu, Faris Hashim, Colleen Macmurdo, Christian Hanna

Pediatr Nephrol· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Persistent hyperkalemia in an otherwise healthy 4-month-old female: Answers.
Grace Yu, Faris Hashim, Colleen Macmurdo, Christian Hanna

Pediatr Nephrol· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Valentina Vélez-Santamaría, Edgard Verdura, Colleen Macmurdo, Laura Planas-Serra, Agatha Schlüter

Brain· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
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, Colleen F Macmurdo

Mol Genet Genomic Med· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
Michael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, Margot A Cousin, Nicole J Boczek, Colleen Macmurdo

Case Rep Genet· January 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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, Colleen Forsyth Macmurdo

JAMA Neurol· July 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
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

Am J Med Genet A· June 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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 Willis, Colleen Forsyth Macmurdo

Am J Hum Genet· March 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis