G. Graham

发表

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

K. Boycott, D. Bulman, C. Beaulieu, 2014, Journal of Medical Genetics.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Jacek Majewski, Olga Jarinova, Dennis E. Bulman, 2016, Canadian Medical Association Journal.

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease*

M. Topf, R. Shiang, A. Manzur, 2012, The Journal of Biological Chemistry.

Advances in Brief Absence of PTEN / MMAC 1 GermLine Mutations in Sporadic Bannayan-Riley-Ruvalcaba Syndrome 1

Marilyn, Dharam, F. Furnari, 2006 .

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

S. Scherer, A. C. Lionel, C. Marshall, 2016, Genetics in Medicine.

Dyskeratosis congenita: an autosomal recessive variant.

A. Elliott, A. Teebi, B. Mazer, 1999, American journal of medical genetics.

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

K. Boycott, K. Kernohan, T. Hartley, 2018, American journal of medical genetics. Part A.

Canadian guideline on genetic screening for hereditary renal cell cancers.

S. Pautler, C. Gedye, S. Kamel‐Reid, 2013, Canadian Urological Association journal = Journal de l'Association des urologues du Canada.

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

C. Eng, D. Marsh, E. Marliss, 1998, American journal of medical genetics.

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

R. Tenconi, M. Tartaglia, R. Heller, 2011, American journal of medical genetics. Part A.

A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype

D. Stavropoulos, D. Dyment, Krista M Vincent, 2022, American journal of medical genetics. Part A.

Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS).

R. Weksberg, M. DeBaun, M. Coppes, 2002, Medical and pediatric oncology.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

K. Gripp, D. Viskochil, D. Stevenson, 2015, American journal of medical genetics. Part A.

New dominant syndrome of pterygium colli, mental retardation, and digital anomalies.

G. Graham, M. Khalifa, 1994, American journal of medical genetics.

Pre‐ and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two‐Center Experience

P. Byers, A. Yeoh, M. Choolani, 2014, Stem cells translational medicine.

Ten years follow up after prenatal transplantation of fetal mesenchymal stem cell in a patient with severe osteogenesis imperfecta

M. Westgren, K. Blanc, G. Graham, 2013 .

Application of Hereditary Renal Cell Carcinoma Risk Criteria to a Large Prospective Database.

S. Pautler, R. Kim, M. Care, 2019, Clinical oncology (Royal College of Radiologists (Great Britain)).

Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

J. McGowan-Jordan, W. Al-Hertani, G. Graham, 2013, American journal of medical genetics. Part A.

Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

D. Lillicrap, P. Macleod, P. Bridge, 1992, Journal of Inherited Metabolic Disease.

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

M. Brueckner, C. Basson, S. Aftimos, 2005, Pediatric Research.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

E. Zackai, G. Wertheim, J. Maris, 2020, American journal of medical genetics. Part A.

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

G. Utermann, M. Nezarati, G. Graham, 2002, American journal of medical genetics.

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC)

Amanda C. Smith, G. Graham, C. Gilpin, 2018, Familial Cancer.

Genotype–phenotype correlations in MYCN‐related Feingold syndrome

H. Brunner, H. van Bokhoven, H. Scheffer, 2008, Human mutation.

Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with PHF6 mutations

A. Hunter, M. Carter, G. Graham, 2009, American journal of medical genetics. Part A.

A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome.

I. Boutet, N. Milgram, K. Cornish, 2009, Journal of intellectual disability research : JIDR.

King syndrome: further clinical variability and review of the literature.

V. D. Der Kaloustian, K. Silver, G. Graham, 1998, American journal of medical genetics.

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

S. Cannon, Lijia Huang, G. Graham, 2020, Frontiers in Neurology.

The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review

L. Armstrong, F. Costello, G. Graham, 2008, American journal of medical genetics. Part A.

Further Evidence for Genetic Heterogeneity in Familial Hemophagocytic Lymphohistiocytosis (FHLH)

J. Wolff, M. Coppes, R. Egeler, 2000, Pediatric Research.

Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome

G. Graham, Erika K Smith, R. Vanneste, 2013, American journal of medical genetics. Part A.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

TO JMG A novel PHF 6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome

A. Hunter, G. Graham, D. Picketts, 2004 .

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome

C. Junien, W. Reik, V. D. Der Kaloustian, 2003, Journal of medical genetics.

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

M. Owen, Ian Duguid, R. Shiang, 2006, Nature Genetics.

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*

E. Karam, H. Mandel, S. Berkovic, 2013, The Journal of Biological Chemistry.

Silencing of CDKN 1 C ( p 57 KIP 2 ) is associated with hypomethylation at KvDMR 1 in Beckwith – Wiedemann syndrome

C. Junien, W. Reik, E. Maher, 2003 .

High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome

P. Propping, S. Aretz, R. Santer, 2005, Human mutation.

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

F. Endo, G. Andria, Y. Indo, 1999, American journal of human genetics.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing

K. Boycott, J. Majewski, D. Grynspan, 2015, American journal of medical genetics. Part A.

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

K. Boycott, T. Hartley, D. Dyment, 2017, American journal of medical genetics. Part A.

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome

A. Hunter, G. Graham, D. Picketts, 2004, Journal of Medical Genetics.

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

E. Jabs, R. Lowry, G. Graham, 2001, American journal of medical genetics.

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

W. Chung, P. Jayakar, M. Marble, 2021, Genetics in Medicine.

Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.

J. Allanson, G. Graham, 1999, American journal of medical genetics.

Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature

K. Devriendt, H. Stewart, Marilyn C. Jones, 2018, European Journal of Human Genetics.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

C. Schwartz, K. Boycott, D. Bulman, 2011, European Journal of Human Genetics.

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication

M. Basik, J. McGowan-Jordan, M. Carter, 2011, American journal of medical genetics. Part A.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

E. Zackai, J. Vermeesch, B. Emanuel, 2019, Genetics in Medicine.

Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature

L. Caulley, J. Vaccani, J. Michaud, 2016, Pediatrics.

Hyperekplexia: Treatment of a Severe Phenotype and Review of the Literature

G. Graham, A. Mineyko, S. Whiting, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

P. Sanchez-Lara, J. Hoover-Fong, K. Rauen, 2014, Clinical genetics.

A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care

C. Liddy, A. Afkham, E. Keely, 2019, European Journal of Human Genetics.

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

F. Bernier, P. Macleod, A. Chudley, 2008, Molecular Cytogenetics.

Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey.

S. Pautler, S. Kamel‐Reid, M. Care, 2014, Canadian Urological Association journal = Journal de l'Association des urologues du Canada.