Gail E Graham

Gail E Graham

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Gail E Graham

Gail E Graham

Publications by authors named "Gail E Graham"

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33Publications

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Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Am J Med Genet A 2020 Jan 21. Epub 2020 Jan 21.

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

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http://dx.doi.org/10.1002/ajmg.a.61475DOI Listing
January 2020

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

Eur J Hum Genet 2019 Jul 18;27(7):1026-1032. Epub 2019 Feb 18.

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

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http://dx.doi.org/10.1038/s41431-019-0342-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777537PMC
July 2019

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

Fam Cancer 2018 10;17(4):615-620

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

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http://dx.doi.org/10.1007/s10689-018-0076-4DOI Listing
October 2018

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

Am J Med Genet A 2017 Jul 9;173(7):1839-1847. Epub 2017 May 9.

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

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http://dx.doi.org/10.1002/ajmg.a.38250DOI Listing
July 2017

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

CMAJ 2016 Aug 30;188(11):E254-E260. Epub 2016 May 30.

Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.

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http://dx.doi.org/10.1503/cmaj.150823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978597PMC
August 2016

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

Pediatrics 2016 07 2;138(1). Epub 2016 Jun 2.

Otolaryngology-Head and Neck Surgery, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada

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http://dx.doi.org/10.1542/peds.2015-4605DOI Listing
July 2016

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

Can Urol Assoc J 2014 Nov;8(11-12):E832-40

Division of Urology, Department of Surgery, Schulich School of Medicine & Dentistry, Western University, London, ON; ; Division of Surgical Oncology, Department of Oncology, Schulich School of Medicine & Dentistry, Western University, London, ON.

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http://dx.doi.org/10.5489/cuaj.2415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4250249PMC
November 2014

Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.

Stem Cells Transl Med 2014 Feb 16;3(2):255-64. Epub 2013 Dec 16.

Division of Obstetrics and Gynecology, Center for Hematology and Regenerative Medicine, Department of Women's and Children's Health and Neuro-pediatric Unit, and Hematology Center, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden; Department of Obstetrics and Gynecology and Division of Medical Genetics, Department of Pediatrics, Chang Gung Memorial Hospital at Linkou and Chang Gung University College of Medicine, Taoyuan, Taiwan; Experimental Fetal Medicine Group, Department of Obstetrics and Gynecology, and Department of Pediatrics, Yong Loo Lin School of Medicine and National University of Singapore, Singapore; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA; Department of Genetics, Children's Hospital of Eastern Ontario and Department of Pediatrics, University of Ottawa, Ottawa, Canada; Orthopedic Unit, Uppsala University Hospital, Uppsala, Sweden; Women's and Children's Health, Uppsala University, Uppsala, Sweden; Centre for Clinical Research, University of Queensland, Brisbane, Australia; Department of Reproductive Medicine, Women's and Children's Hospital, Singapore; Cancer and Stem Cell Biology, Duke-National University of Singapore Graduate Medical School, Singapore.

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http://dx.doi.org/10.5966/sctm.2013-0090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925052PMC
February 2014

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

Am J Med Genet A 2013 Jan 13;161A(1):153-7. Epub 2012 Dec 13.

Department of Genetics, University of Ottawa, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35491
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http://dx.doi.org/10.1002/ajmg.a.35491DOI Listing
January 2013

Hyperekplexia: treatment of a severe phenotype and review of the literature.

Can J Neurol Sci 2011 May;38(3):411-6

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

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http://dx.doi.org/10.1017/s0317167100011793DOI Listing
May 2011

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

Am J Med Genet A 2009 Feb;149A(2):246-50

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

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http://doi.wiley.com/10.1002/ajmg.a.32624
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http://dx.doi.org/10.1002/ajmg.a.32624DOI Listing
February 2009

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Hum Mutat 2008 Sep;29(9):1125-32

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/humu.20750DOI Listing
September 2008

The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.

Am J Med Genet A 2008 Jan;146A(1):83-92

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31998DOI Listing
January 2008

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

Am J Med Genet 2002 Jun;110(2):103-8

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/ajmg.10367DOI Listing
June 2002