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Primary ciliary dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population

Pediatric pulmonology, 2023-09, Vol.58 (9), p.2437-2438

Morris‐Rosendahl, Deborah J.

2023

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Metabolomic, transcriptomic and genetic integrative analysis reveals important roles of adenosine diphosphate in haemostasis and platelet activation in non‐small‐cell lung cancer

Molecular oncology, 2019-11, Vol.13 (11), p.2406-2421

2019

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CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

Genetics in medicine, 2018-10, Vol.20 (10), p.1246-1254

2018

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Microdeletion 5q14.3 and anomalies of brain development

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2124-2133

2013

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Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2161-2171

2014

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary

Journal of child neurology, 2012-12, Vol.27 (12), p.1534-1540

2012

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Whole-Gene Sequencing of CFTR Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis

American journal of respiratory and critical care medicine, 2020-06, Vol.201 (11), p.1438-1441

2020

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Filamin A mutation is one cause of FG syndrome

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1876-1879

2007

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Prenatal diagnosis of muscle‐eye‐brain disease

Prenatal diagnosis, 2007-01, Vol.27 (1), p.51-54

2007

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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

Annals of neurology, 2002-05, Vol.51 (5), p.662-662

2002

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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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The Human Genome: Chromosome 22q11 Deletion Syndrome

The American journal of psychiatry, 2002-04, Vol.159 (4), p.527-527

2002

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Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: Tentative association between B37 and schizophrenia

American journal of medical genetics, 1997-05, Vol.74 (3), p.324-330

1997

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Prenatal diagnosis of muscle-eye-brain disease

Prenatal Diagnosis, 2007, Vol.27 (1), p.51-54

2007

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Filamin A mutation is one cause of FG syndrome

American Journal of Medical Genetics Part A, 2007, Vol.143A (16), p.1876-1879

2007

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Tablet and web-based audiometry to screen for hearing loss in adults with cystic fibrosis

Thorax, 2020-08, Vol.75 (8), p.632-639

2020

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Primary ciliary dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population

Metabolomic, transcriptomic and genetic integrative analysis reveals important roles of adenosine diphosphate in haemostasis and platelet activation in non‐small‐cell lung cancer

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

Microdeletion 5q14.3 and anomalies of brain development

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary

Whole-Gene Sequencing of CFTR Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis

Filamin A mutation is one cause of FG syndrome

Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients

Prenatal diagnosis of muscle‐eye‐brain disease

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

Mutation Spectrum in RAB 3 GAP 1 , RAB 3 GAP 2 , and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

The Human Genome: Chromosome 22q11 Deletion Syndrome

Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: Tentative association between B37 and schizophrenia

Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

Prenatal diagnosis of muscle-eye-brain disease

Filamin A mutation is one cause of FG syndrome

Tablet and web-based audiometry to screen for hearing loss in adults with cystic fibrosis

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

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