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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

American journal of human genetics, 2012-06, Vol.90 (6), p.1088-1093

2012

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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Nature communications, 2014-07, Vol.5 (1), p.4483-4483, Article 4483

2014

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A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.596-600

2017

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Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series

Journal of medical case reports, 2013-04, Vol.7 (1), p.117-117, Article 117

2013

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A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1287-1293

2017

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Response to correspondence of NDUFS4‐related Leigh syndrome in Hutterites

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1452-1452

2017

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Sotos syndrome: Antenatal presentation

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1312-1313

2008

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Perinatal and childhood morbidity and mortality in congenital analbuminemia

Paediatrics & child health, 2012-06, Vol.17 (6), p.e20-e23

2012

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Clinical and radiologic findings in an adult male with dysosteosclerosis

American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.474-478

2008

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Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis

Modern pathology, 2004-08, Vol.17 (8), p.973-980

2004

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Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax

Canadian Medical Association journal (CMAJ), 2011-06, Vol.183 (9), p.E601

2011

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Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

Human mutation, 2005-03, Vol.25 (3), p.320-321

2005

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Congenital anterolateral tibial bowing and polydactyly: a case report

Journal of medical case reports, 2007-07, Vol.1 (1), p.54-54, Article 54

Lemire, Edmond G

2007

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Discordant intrauterine environment may explain discordance in monozygotic twins

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1260-1260

Lemire, Edmond G.

2007

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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

American journal of human genetics, 2012-07, Vol.91 (1), p.209-209

2012

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Spinal CSF Leaks: Mimicker of Primary Headache Disorder in a Child

Canadian journal of neurological sciences, 2012-05, Vol.39 (3), p.388-392

2012

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Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms

Molecular genetics & genomic medicine, 2014-11, Vol.2 (6), p.539-547

2014

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Familial interstitial pulmonary fibrosis: a large family with atypical clinical features

Canadian respiratory journal, 2010-11, Vol.17 (6), p.269-274

2010

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Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

Pediatric radiology, 2006-08, Vol.36 (8), p.866-869

2006

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Familial RYR 1 mutation associated with mild and severe central core disease

Canadian journal of neurological sciences, 2010-07, Vol.37 (4), p.528

2010

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Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1848-1856

2011

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Omphalocele in an infant with Cornelia de Lange syndrome

Clinical dysmorphology, 2006-10, Vol.15 (4), p.255

Lemire, Edmond G

2006

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The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers

British journal of cancer, 2012-12, Vol.107 (12), p.2005-2009

2012

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Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis

British journal of cancer, 2024-02, Vol.130 (2), p.269-274

2024

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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

Response to correspondence of NDUFS4‐related Leigh syndrome in Hutterites

Sotos syndrome: Antenatal presentation

Perinatal and childhood morbidity and mortality in congenital analbuminemia

Clinical and radiologic findings in an adult male with dysosteosclerosis

Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis

Birt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

Congenital anterolateral tibial bowing and polydactyly: a case report

Discordant intrauterine environment may explain discordance in monozygotic twins

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Spinal CSF Leaks: Mimicker of Primary Headache Disorder in a Child

Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms

Familial interstitial pulmonary fibrosis: a large family with atypical clinical features

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

Familial RYR 1 mutation associated with mild and severe central core disease

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

Omphalocele in an infant with Cornelia de Lange syndrome

The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers

Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis

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