GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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Journal Article
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population
Lamont, Ryan E., Beaulieu, Chandree L., Bernier, Francois P., Sparkes, Rebecca, Innes, A. Micheil, Jackel‐Cram, Candice, Ober, Carole, Parboosingh, Jillian S., Lemire, Edmond G.
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Journal Article
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series
Bygarski, Elizabeth, Paterson, Melanie, Lemire, Edmond G
Published in Journal of medical case reports (26.04.2013)
Published in Journal of medical case reports (26.04.2013)
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Journal Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome
Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.
Published in Nature communications (22.07.2014)
Published in Nature communications (22.07.2014)
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Journal Article
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome
Zarrei, Mehdi, Merico, Daniele, Kellam, Barbara, Engchuan, Worrawat, Scriver, Tara, Jokhan, Rikash, Wilson, Michael D., Parr, Jeremy, Lemire, Edmond G., Stavropoulos, Dimitri J., Scherer, Stephen W.
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Response to correspondence of NDUFS4‐related Leigh syndrome in Hutterites
Lamont, Ryan E., Beaulieu, Chandree L., Bernier, Francois P., Sparkes, Rebecca, Innes, A. Micheil, Jackel‐Cram, Candice, Ober, Carole, Parboosingh, Jillian S., Lemire, Edmond G.
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Sotos syndrome: Antenatal presentation
Thomas, Aidan, Lemire, Edmond G.
Published in American journal of medical genetics. Part A (15.05.2008)
Published in American journal of medical genetics. Part A (15.05.2008)
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Journal Article
Perinatal and childhood morbidity and mortality in congenital analbuminemia
Toye, Jennifer M, Lemire, Edmond G, Baerg, Krista L
Published in Paediatrics & child health (01.06.2012)
Published in Paediatrics & child health (01.06.2012)
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Journal Article
Clinical and radiologic findings in an adult male with dysosteosclerosis
Lemire, Edmond G., Wiebe, Sheldon
Published in American journal of medical genetics. Part A (15.02.2008)
Published in American journal of medical genetics. Part A (15.02.2008)
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Journal Article
A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate
Pegu, Satyaranjan, Bodani, Jaya. P., Lemire, Edmond G., Holfeld, Karen I.
Published in Case reports in perinatal medicine (26.03.2017)
Published in Case reports in perinatal medicine (26.03.2017)
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Journal Article
Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis
Chibbar, Rajni, Shih, Francis, Baga, Monica, Torlakovic, Emina, Ramlall, Kumar, Skomro, Robert, Cockcroft, Donald W, Lemire, Edmond G
Published in Modern pathology (01.08.2004)
Published in Modern pathology (01.08.2004)
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Journal Article
Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax
Pierce, Cameron W, Hull, Peter R, Lemire, Edmond G, Marciniuk, Darcy D
Published in Canadian Medical Association journal (CMAJ) (14.06.2011)
Published in Canadian Medical Association journal (CMAJ) (14.06.2011)
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Journal Article
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Journal Article
Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms
Baskin, Berivan, Stavropoulos, Dimitri J., Rebeiro, Paige A., Orr, Jennifer, Li, Martin, Steele, Leslie, Marshall, Christian R., Lemire, Edmond G., Boycott, Kym M., Gibson, William, Ray, Peter N.
Published in Molecular genetics & genomic medicine (01.11.2014)
Published in Molecular genetics & genomic medicine (01.11.2014)
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Journal Article