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Colleen Macmurdo

Observed names: C. Macmurdo, CM Macmurdo, Colleen F. Macmurdo, Colleen Forsyth Macmurdo, Colleen Forsyth Macmurdo, Macmurdo, Colleen
Observed institutions: Baylor College of Medicine, Baylor Scott & White Medical Center - Temple, Stanford Medicine, Texas Children's Hospital, Baylor Scott & White Health, Texas A&M University, Stanford University
OpenAlex ID: A5029028848
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
2016 · Ghayda M. Mirzaa, Catarina D. Campbell, et al. · JAMA Neurology · 274
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De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
2015 · Valerie A. Arboleda, Hane Lee, et al. · The American Journal of Human Genetics · 141
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RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
2016 · Colleen F. Macmurdo, Whitney Wooderchak‐Donahue, et al. · American Journal of Medical Genetics Part A · 104
Expanding the clinical and genetic spectrum of PCYT2-related disorders
2020 · Valentina Vélez-Santamaría, Edgard Verdura, et al. · Brain · 22
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Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
2015 · P.S. Atwal, C. Macmurdo, et al. · Molecular Genetics and Metabolism Reports · 14
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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
2024 · Patrick R. Blackburn, Frédéric Ebstein, et al. · Annals of Neurology · 11
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
2023 · Patrick R. Blackburn, Frédéric Ebstein, et al. · medRxiv · 9
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Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
2017 · Michael T. Zimmermann, Raul A. Urrutia, et al. · Case Reports in Genetics · 7
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Protein modeling and clinical description of a novel in‐frame GLB 1 deletion causing GM 1 gangliosidosis type II
2018 · John E. Richter, Michael T. Zimmermann, et al. · Molecular Genetics & Genomic Medicine · 5
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A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome
2015 · C. Macmurdo, Paldeep Atwal · Journal of Pediatric Genetics · 4
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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
2023 · Paul Roby, Gretta Smith Beltran, et al. · Cureus · 3
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Unusual radiographic progression of tumoral calcinosis along the anterior cruciate ligament in an adolescent male
2024 · Adiba Perkins, Kurren Desai, et al. · Baylor University Medical Center Proceedings · 1
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Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy
2021 · Christina F. Jack, Krista L. Birkemeier, et al. · Pediatric Radiology · 1
Persistent hyperkalemia in an otherwise healthy 4-month-old female: Questions
2020 · Grace Yu, Faris Hashim, et al. · Pediatric Nephrology
Persistent hyperkalemia in an otherwise healthy 4-month-old female: Answers
2020 · Grace Yu, Faris Hashim, et al. · Pediatric Nephrology
Mosaic and constitutional mutations of MTOR cause a spectrum of developmental brain disorders from focal cortical dysplasia to diffuse megalencephaly
2016 · GM Mirzaaa, C J Campbell, et al. · The HKU Scholars Hub (University of Hong Kong)
Works count: 17
Citation count: 601
H-index: 7
I10-index: 6
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