Michael T Geraghty

Michael T Geraghty

UNVERIFIED PROFILE

Are you Michael T Geraghty?   Register this Author

Register author
Michael T Geraghty

Michael T Geraghty

Publications by authors named "Michael T Geraghty"

Are you Michael T Geraghty?   Register this Author

52Publications

1706Reads

16Profile Views

Direct Health Care Costs, Health Services Utilization and Outcomes of Biliary Atresia: A Population-Based Cohort Study.

J Pediatr Gastroenterol Nutr 2019 Dec 12. Epub 2019 Dec 12.

Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000002582DOI Listing
December 2019

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

Mol Genet Metab 2019 Dec 10. Epub 2019 Dec 10.

University of Ottawa, Ottawa, ON, Canada; Newborn Screening Ontario, Canada; Children's Hospital of Eastern Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.12.006DOI Listing
December 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Mol Genet Metab 2018 03 12;123(3):309-316. Epub 2017 Dec 12.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.12.009DOI Listing
March 2018

Severe Neutropenia and Anemia in a Child With Epilepsy and Copper Deficiency on a Ketogenic Diet.

Pediatr Neurol 2017 11 24;76:93-94. Epub 2017 Aug 24.

Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2017.08.007DOI Listing
November 2017

Fatty liver in a non-obese patient.

Paediatr Child Health 2017 May 13;22(2):59-60. Epub 2017 Apr 13.

University of Ottawa, Ottawa, OntarioDepartment of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, OntarioDivision of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/pch/pxx034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804803PMC
May 2017

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Mol Genet Genomic Med 2016 Sep 10;4(5):504-12. Epub 2016 May 10.

Children's Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawaOntarioCanada; Department of GeneticsChildren's Hospital of Eastern Ontario ResearchOttawaOntarioCanada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023935PMC
September 2016

Very late-onset Sandhoff disease presenting as Kennedy disease.

Muscle Nerve 2015 Dec;52(6):1135-6

Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24775DOI Listing
December 2015

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

Hum Mol Genet 2015 Nov 24;24(22):6293-300. Epub 2015 Aug 24.

Children's Hospital of Eastern Ontario Research Institute, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614701PMC
November 2015

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Mol Genet Metab 2015 Nov 31;116(3):146-51. Epub 2015 Aug 31.

Department of Pediatrics London Health Sciences Centre and Western University, London ON, Canada; Department of Pathology and Laboratory Medicine Western University, London, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.08.010DOI Listing
November 2015

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Pediatrics 2015 Sep 3;136(3):e714-7. Epub 2015 Aug 3.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada; and

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2015-0750DOI Listing
September 2015

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

CMAJ 2015 Feb 1;187(2):102-107. Epub 2014 Dec 1.

Department of Genetics (Marcadier), Children's Hospital of Eastern Ontario; Division of Gastroenterology, Hepatology and Nutrition (Boland), Children's Hospital of Eastern Ontario; Department of Pediatrics (Boland, Issa, Geraghty, Lines), University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ont.; Department of Pediatrics (Scott, Wu), University of Washington, Seattle, Wash.; Robarts Research Institute (McIntyre, Hegele), Schulich School of Medicine and Dentistry, Western University, London, Ont.; Metabolics (Geraghty, Lines), Children's Hospital of Eastern Ontario, Ottawa, Ont.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1503/cmaj.140657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312148PMC
February 2015

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.

Am J Respir Crit Care Med 2014 Mar;189(6):750-2

1 Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada and.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1164/rccm.201312-2225LEDOI Listing
March 2014

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

JIMD Rep 2014 31;12:79-84. Epub 2013 Jul 31.

Division of Metabolics and Newborn Screening, University of Ottawa, Children's Hospital of Eastern Ontario, 401 Smyth Road, K1H 8L1, Ottawa, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2013_247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797PMC
January 2014

A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.

Pediatrics 2013 Jul 17;132(1):e257-61. Epub 2013 Jun 17.

Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2013-0105DOI Listing
July 2013

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.

Am J Med Genet A 2011 Feb;155A(2):301-6

Division of Developmental Pediatrics, Department of Pediatrics, Hospital for Sick Children, and Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33841
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33841DOI Listing
February 2011

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Clin Chem 2008 Jul 16;54(7):1141-8. Epub 2008 May 16.

Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2008.103721DOI Listing
July 2008

Discrepant DNA analysis in three patients with inherited arrhythmia: molecular genetic test results deserve a second glance.

Am J Med Genet A 2008 Jun;146A(11):1466-9

Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32336DOI Listing
June 2008

Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls.

J Pediatr 2002 Sep;141(3):421-5

Department of Pediatrics, and the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21287, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1067/mpd.2002.127496DOI Listing
September 2002

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Mol Genet Metab 2002 Jul;76(3):172-80

Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Blalock 10-08, 600 North Wolfe Street, Baltimore, MD 21287, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1096-7192(02)00037-9DOI Listing
July 2002

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.

Am J Med Genet 2002 Feb;108(1):57-63

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10186DOI Listing
February 2002