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michael geraghty
michael geraghty
Children's Hospital Eastern Ontario, University of Ottawa
Verified email at cheo.on.ca
Title
Cited by
Cited by
Year
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
DJ Marsh, JB Kum, KL Lunetta, MJ Bennett, RJ Gorlin, SF Ahmed, ...
Human molecular genetics 8 (8), 1461-1472, 1999
6701999
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ...
Cell 140 (1), 74-87, 2010
6142010
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ...
Clinical genetics 89 (3), 275-284, 2016
4182016
Phenylketonuria in adulthood: a collaborative study
R Koch, B Burton, G Hoganson, R Peterson, W Rhead, B Rouse, R Scott, ...
Journal of inherited metabolic disease 25, 333-346, 2002
2662002
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome
PC Rowe, DF Barron, H Calkins, IH Maumenee, PY Tong, MT Geraghty
The Journal of pediatrics 135 (4), 494-499, 1999
2261999
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes
KD Smith, S Kemp, LT Braiterman, JF Lu, HM Wei, M Geraghty, G Stetten, ...
Neurochemical research 24, 521-535, 1999
2221999
The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
Journal of Medical Genetics 52 (7), 431-437, 2015
2182015
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
PK Chakraborty, K Schmitz-Abe, EK Kennedy, H Mamady, T Naas, ...
Blood, The Journal of the American Society of Hematology 124 (18), 2867-2871, 2014
1942014
Prenatal screening for fetal aneuploidy in singleton pregnancies
D Chitayat, S Langlois, RD Wilson, F Audibert, C Blight, JA Brock, ...
Journal of obstetrics and gynaecology Canada 33 (7), 736-750, 2011
1862011
Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis
WR Kates, CP Burnette, EW Jabs, J Rutberg, AM Murphy, M Grados, ...
Biological Psychiatry 49 (8), 677-684, 2001
1832001
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ...
Human molecular genetics 23 (10), 2752-2768, 2014
1772014
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
1752012
Deletion of PTEN in a patient with Bannayan‐Riley‐Ruvalcaba syndrome suggests allelism with Cowden disease
EM Arch, BK Goodman, RAV Wesep, D Liaw, K Clarke, R Parsons, ...
American journal of medical genetics 71 (4), 489-493, 1997
1641997
Carrier screening for thalassemia and hemoglobinopathies in Canada
S Langlois, JC Ford, D Chitayat, VA Désilets, SA Farrell, M Geraghty, ...
Journal of obstetrics and gynaecology Canada 30 (10), 950-959, 2008
1562008
Retired: prenatal screening for fetal aneuploidy
AM Summers, S Langlois, P Wyatt, RD Wilson, V Allen, C Blight, ...
Journal of obstetrics and gynaecology canada 29 (2), 146-161, 2007
1412007
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
S Stockler-Ipsiroglu, C Van Karnebeek, N Longo, GC Korenke, ...
Molecular Genetics and Metabolism 111 (1), 16-25, 2014
1362014
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue-or age-related variation
SL White, S Shanske, JJ McGill, H Mountain, MT Geraghty, S DiMauro, ...
Journal of inherited metabolic disease 22, 899-914, 1999
1321999
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
S Chew, R Balasubramanian, WM Chan, PB Kang, C Andrews, BD Webb, ...
Brain 136 (2), 522-535, 2013
1272013
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson‐Golabi‐Behmel syndrome
M Li, C Shuman, YL Fei, E Cutiongco, HA Bender, C Stevens, ...
American journal of medical genetics 102 (2), 161-168, 2001
1272001
Cobalamin C defect associated with hemolytic-uremic syndrome.
MT Geraghty, EJ Perlman, LS Martin, SJ Hayflick, JF Casella, ...
The Journal of pediatrics 120 (6), 934-937, 1992
1181992
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