Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Geraghty · SciRah

Researcher profile · Semantic Scholar

M. Geraghty

Share profile

M. Geraghty — researcher profile on SciRah

h-index: 40
Works: 117
Citations: 5,959

Most-cited papers

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Max A. Tischfield, H. Baris, Chen Wu, G. Rudolph +45 more
2010Cell594 citations Open access
Semantic Scholar
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 +21 more
2015Journal of Medical Genetics217 citations Open access
Semantic Scholar
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.
Peter C. Rowe, D. Barron, H. Calkins, I. Maumenee +2 more
1999Jornal de Pediatria209 citations Open access
Semantic Scholar
Phenylketonuria in adulthood: A collaborative study
R. Koch, B. Burton, G. Hoganson, R. Peterson +14 more
2002Journal of Inherited Metabolic Disease206 citations
Semantic Scholar
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
P. Chakraborty, K. Schmitz-Abe, Erin K. Kennedy, Hapsatou Mamady +31 more
2014Blood184 citations Open access
Semantic Scholar
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
J. Schuurs-Hoeijmakers, M. Geraghty, E. Kamsteeg, S. Ben-Salem +36 more
2012American Journal of Human Genetics169 citations Open access
Semantic Scholar
Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis.
W. Kates, C. Burnette, E. Jabs, J. Rutberg +5 more
2001Biological Psychiatry167 citations
Semantic Scholar
X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes
Kirby D. Smith, S. Kemp, L. Braiterman, Jyh-Feng Lu +6 more
2004Neurochemical Research155 citations
Semantic Scholar
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
A. C. Lionel, K. Tammimies, A. Vaags, J. Rosenfeld +80 more
2014Human Molecular Genetics151 citations Open access
Semantic Scholar
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
S. Stöckler-Ipsiroglu, C. van Karnebeek, N. Longo, G. Korenke +28 more
2014Molecular Genetics and Metabolism137 citations Open access
Semantic Scholar
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Sheena Chew, Ravikumar Balasubramanian, W. Chan, P. Kang +13 more
2013Brain : a journal of neurology121 citations Open access
Semantic Scholar
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.
Madeline Li, C. Shuman, Yang Fei, E. M. Cutiongco +8 more
2001American journal of medical genetics120 citations
Semantic Scholar
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome
Laura M McDonell, G. Mirzaa, Diana Alcantara, J. Schwartzentruber +26 more
2013Nature Genetics116 citations Open access
Semantic Scholar
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
D. Wiseman, A. May, S. Jolles, P. Connor +16 more
2013Blood113 citations Open access
Semantic Scholar
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
H. Daoud, S. Luco, Rui Li, E. Bareke +15 more
2016Canadian Medical Association Journal97 citations Open access
Semantic Scholar
Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls.
D. Barron, B. Cohen, M. Geraghty, Richard L. Violand +1 more
2002Jornal de Pediatria88 citations
Semantic Scholar
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
A. V. van Kuilenburg, M. Tarailo-Graovac, P. Richmond, B. Drögemöller +41 more
2019New England Journal of Medicine78 citations Open access
Semantic Scholar
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
H. McMillan, Thea Worthylake, J. Schwartzentruber, Chloe Gottlieb +11 more
2012Orphanet Journal of Rare Diseases72 citations Open access
Semantic Scholar
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
O. Shchelochkov, Fang-Yuan Li, M. Geraghty, R. Gallagher +9 more
2009Molecular Genetics and Metabolism61 citations
Semantic Scholar
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations
H. McMillan, P. Humphreys, Amanda C. Smith, J. Schwartzentruber +6 more
2015Journal of Child Neurology60 citations
Semantic Scholar
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Verayuth Praphanphoj, Barbara K. Goodman, George H. Thomas, K. Niel +3 more
2000Genomics59 citations Open access
Semantic Scholar
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability
K. Kernohan, M. Tétreault, U. Liwak-Muir, M. Geraghty +7 more
2015Human Molecular Genetics58 citations Open access
Semantic Scholar
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
J. Zambonin, Allison Bellomo, H. Ben-Pazi, D. Everman +18 more
2017Orphanet Journal of Rare Diseases56 citations Open access
Semantic Scholar
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
M. Tétreault, S. Fahiminiya, H. Antonicka, G. Mitchell +8 more
2015Human Genetics56 citations
Semantic Scholar
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
Julien Marcadier, Amanda M Smith, D. Pohl, J. Schwartzentruber +9 more
2013Orphanet Journal of Rare Diseases53 citations Open access
Semantic Scholar
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
J. Maletkovic, R. Schiffmann, J. Gorospe, E. Gordon +20 more
2008Journal of Child Neurology53 citations
Semantic Scholar
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Kevin E. Glinton, P. Benke, Matthew A. Lines, M. Geraghty +8 more
2017Molecular Genetics and Metabolism51 citations
Semantic Scholar
Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation
Julien Marcadier, M. Boland, C. Scott, Kheirie Issa +5 more
2015Canadian Medical Association Journal50 citations Open access
Semantic Scholar
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
H. McMillan, J. Schwartzentruber, Amanda M Smith, Suzie Lee +6 more
2014BMC Medical Genetics48 citations Open access
Semantic Scholar
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency
P. Fitzsimons, C. Alston, P. Bonnen, J. Hughes +13 more
2018American Journal of Medical Genetics. Part A44 citations Open access
Semantic Scholar
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns[S]
A. DeBarber, Jenny Luo, M. Star-Weinstock, S. Purkayastha +5 more
2014Journal of Lipid Research42 citations Open access
Semantic Scholar
Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).
D. Goh, Ankita Patel, G. Thomas, G. Salomons +3 more
2002Molecular Genetics and Metabolism40 citations
Semantic Scholar
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
O. Al-Dirbashi, S. Kolker, D. Ng, L. Fisher +10 more
2011Journal of Inherited Metabolic Disease37 citations
Semantic Scholar
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
M. E. Mccready, N. Carson, P. Chakraborty, J. Clarke +7 more
2007Molecular Genetics and Metabolism37 citations
Semantic Scholar
Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone
David S Saleh, S. Lawrence, M. Geraghty, P. Gallego +3 more
2016BMC Pediatrics36 citations Open access
Semantic Scholar
Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
B. Potter, P. Chakraborty, J. Kronick, K. Wilson +10 more
2012Genetics in Medicine35 citations Open access
Semantic Scholar
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
S. Kennedy, B. Potter, K. Wilson, L. Fisher +3 more
2010BMC Pediatrics34 citations Open access
Semantic Scholar
Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene.
V. Praphanphoj, K. Sacksteder, Stephen J. Gould, G. Thomas +1 more
2001Molecular Genetics and Metabolism34 citations
Semantic Scholar
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
K. Kernohan, T. Hartley, S. Naumenko, Christine M. Armour +8 more
2018American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care
A. Hamilton, M. Tétreault, D. Dyment, Ruobing Zou +4 more
2016Molecular Genetics & Genomic Medicine33 citations Open access
Semantic Scholar
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies
M. Carter, M. Geraghty, Laura Elisa Aranda de la Cruz, R. Reichard +3 more
2011American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J. van Rijt, Emmalie A. Jager, D. Allersma, A. Zeybek +20 more
2020Genetics in Medicine27 citations Open access
Semantic Scholar
Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay
M. Long, Nishard Abdeen, M. Geraghty, P. Hogarth +2 more
2015Pediatrics26 citations
Semantic Scholar
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
Michael Pugliese, Kylie Tingley, Andrea J. Chow, N. Pallone +37 more
2021Pediatrics24 citations Open access
Semantic Scholar
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
D. Johnstone, T. Nguyen, J. Zambonin, K. Kernohan +20 more
2020Journal of Inherited Metabolic Disease24 citations Open access
Semantic Scholar
Human Mutation
Carla Martins, P. D. de Medeiros, S. Leistner, Segal +10 more
201924 citations
Semantic Scholar
Highly penetrant alterations of a critical region including BDNF contribute to human psychopathology
Carl Ernst, C. Marshall, Yi-Ping Shen, K. Metcalfe +25 more
2012Archives of General Psychiatry24 citations Open access
Semantic Scholar
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Amanda M Smith, Skye McBride, Julien Marcadier, J. Michaud +10 more
2016JIMD Reports23 citations Open access
Semantic Scholar
The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia
Z. Al-Hassnan, S. A. Boyadjiev, V. Praphanphoj, Ada Hamosh +3 more
2003Journal of Inherited Metabolic Disease23 citations
Semantic Scholar
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
Richard G. Lee, S. Balasubramaniam, Maike Stentenbach, Tom Kralj +27 more
2022Human Molecular Genetics22 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

K. Boycott×14
Invite
K. Boycott — researcher profile on SciRah
P. Chakraborty×13
Invite
P. Chakraborty — researcher profile on SciRah
J. Majewski×11
Invite
J. Majewski — researcher profile on SciRah
J. Schwartzentruber×7
Invite
J. Schwartzentruber — researcher profile on SciRah

×7

Invite

D. Bulman — researcher profile on SciRah

Matthew A. Lines×7

Invite

Matthew A. Lines — researcher profile on SciRah

Invite

C. Beaulieu — researcher profile on SciRah

Invite

J. Richer — researcher profile on SciRah

Invite

K. Kernohan — researcher profile on SciRah

Invite

T. Hartley — researcher profile on SciRah

Invite

H. McMillan — researcher profile on SciRah

S. Ferdinandusse×4

Invite

S. Ferdinandusse — researcher profile on SciRah