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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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Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine

Genes, 2021-04, Vol.12 (4), p.562

2021

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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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Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

American journal of human genetics, 2013-12, Vol.93 (6), p.1001-1014

2013

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What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)

Molecular and cellular probes, 2015-10, Vol.29 (5), p.271-281

2015

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Neurodevelopmental disorders-the history and future of a diagnostic concept

Dialogues in clinical neuroscience, 2020-03, Vol.22 (1), p.65-72

2020

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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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Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis

Kidney international, 2015-11, Vol.88 (5), p.1070-1078

2015

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Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction

Journal of clinical medicine, 2023-12, Vol.13 (1), p.250

2023

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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

American journal of human genetics, 2019-11, Vol.105 (5), p.1030-1039

2019

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The role of genetics and genomics in clinical psychiatry

Dialogues in clinical neuroscience, 2018-09, Vol.20 (3), p.169-177

2018

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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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A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer

The Journal of molecular diagnostics : JMD, 2022-12, Vol.24 (12), p.1264-1278

2022

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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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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

European journal of human genetics : EJHG, 2023-09, Vol.31 (9), p.1003-1009

2023

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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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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

European journal of human genetics : EJHG, 2024-04

2024

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Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

Clinical immunology (Orlando, Fla.), 2016-03, Vol.164, p.52-56

2016

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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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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

Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine

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

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)

Neurodevelopmental disorders-the history and future of a diagnostic concept

Microdeletion 5q14.3 and anomalies of brain development

Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis

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

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

The role of genetics and genomics in clinical psychiatry

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

A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer

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

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

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

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

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

Filamin A mutation is one cause of FG syndrome

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

Prenatal diagnosis of muscle‐eye‐brain disease

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