A somatic activating NRAS variant associated with kaposiform lymphangiomatosis SF Barclay, KW Inman, VL Luks, JB McIntyre, A Al-Ibraheemi, AJ Church, ... Genetics in Medicine 21 (7), 1517-1524, 2019 | 121 | 2019 |
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours SF Barclay, CM Rand, LA Borch, L Nguyen, PA Gray, WT Gibson, ... Orphanet journal of rare diseases 10, 1-13, 2015 | 59 | 2015 |
Developmental topographical disorientation and decreased hippocampal functional connectivity G Iaria, AEGF Arnold, F Burles, I Liu, E Slone, S Barclay, ... Hippocampus 24 (11), 1364-1374, 2014 | 52 | 2014 |
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison SF Barclay, CM Rand, L Nguyen, RJA Wilson, R Wevrick, WT Gibson, ... Orphanet Journal of Rare Diseases 13, 1-9, 2018 | 47 | 2018 |
Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD SF Barclay, CM Rand, PA Gray, WT Gibson, RJA Wilson, EM Berry-Kravis, ... Respiratory Physiology & Neurobiology 221, 59-63, 2016 | 23 | 2016 |
Kaposiform lymphangiomatosis: pathologic aspects in 43 patients AR Perez-Atayde, L Debelenko, A Al-Ibraheemi, W Eng, M Ruiz-Gutierrez, ... The American Journal of Surgical Pathology 46 (7), 963-976, 2022 | 16 | 2022 |
Familial aggregation in developmental topographical disorientation (DTD) SF Barclay, F Burles, K Potocki, KM Rancourt, ML Nicolson, ... Cognitive Neuropsychology 33 (7-8), 388-397, 2016 | 12 | 2016 |
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding I Khaytin, AK Victor, SF Barclay, LA Benson, SM Slattery, CM Rand, ... Clinical Autonomic Research 33 (3), 251-268, 2023 | 10 | 2023 |
Evaluation of APOE ɛ2/ɛ3/ɛ4 Alleles in a Cohort of Individuals Affected by Developmental Topographical Disorientation SF Barclay, K Potocki, F Burles, NT Bech-Hansen, G Iaria Journal of Alzheimer's Disease Reports 5 (1), 565-570, 2021 | 1 | 2021 |
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation SF Barclay, I Khaytin, A Zhou, CM Rand, DE Weese-Mayer Nelson Textbook of Pediatrics: Volume 1-2, 2716-2730. e1, 2024 | | 2024 |
Using Next-Generation Sequencing to Identify Genes Mutated in Human Disorders S Barclay | | 2017 |
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours NT Bech-Hansen, DE Weese-Mayer, D Ize-Ludlow, EM Berry-Kravis, ... | | 2015 |
Exploring A Genetic Basis Of Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, And Autonomic Dysregulation (ROHHAD) Using Exome Sequencing S Barclay, CM Rand, P Gray, L Borch, L Nguyen, W Gibson, R Wilson, ... C70. SLEEP DISORDERED BREATHING IN PEDIATRIC AND ADULT MEDICAL DISORDERS …, 2015 | | 2015 |
C70 SLEEP DISORDERED BREATHING IN PEDIATRIC AND ADULT MEDICAL DISORDERS: Exploring A Genetic Basis Of Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, And … S Barclay, CM Rand, P Gray, L Borch, L Nguyen, W Gibson, R Wilson, ... American Journal of Respiratory and Critical Care Medicine 191, 1, 2015 | | 2015 |