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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

Human molecular genetics, 2015-08, Vol.24 (15), p.4443-4453

2015

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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

American journal of human genetics, 2013-09, Vol.93 (3), p.506-514

2013

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Assessing climate-induced agricultural vulnerable coastal communities of Bangladesh using machine learning techniques

The Science of the total environment, 2020-11, Vol.742, p.140255-140255, Article 140255

2020

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Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a Novel BRAF Fusion Gene

Brain pathology (Zurich, Switzerland), 2009-07, Vol.19 (3), p.449-458

2009

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Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

Clinical cancer research, 2009-03, Vol.15 (6), p.1923-1930

2009

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Can CT and MRI features differentiate benign from malignant meningiomas?

Clinical radiology, 2019-11, Vol.74 (11), p.898.e15-898.e23

2019

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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Journal of medical genetics, 2015-08, Vol.52 (8), p.532-540

2015

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Association of protein intake with the outcomes of critically ill patients: a post hoc analysis of the PermiT trial

The American journal of clinical nutrition, 2018-11, Vol.108 (5), p.988-996

2018

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22q11.2 Low Copy Repeats Expanded in the Human Lineage

Frontiers in genetics, 2021-07, Vol.12, p.706641-706641

2021

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High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

Genome medicine, 2023-05, Vol.15 (1), p.35-35, Article 35

2023

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Role of circulating miR-182 and miR-150 as biomarkers for cirrhosis and hepatocellular carcinoma post HCV infection in Egyptian patients

Virus research, 2018-08, Vol.255, p.77-84

2018

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The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Genome research, 2019-09, Vol.29 (9), p.1389

2019

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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Human molecular genetics, 2017-08, Vol.26 (15), p.2838-2849

2017

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Prevalence and characteristics of water-pipe smoking in Canada: results from the Canadian Tobacco Use Monitoring Survey

Public health (London), 2017-07, Vol.148, p.102-108

2017

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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Genetics (Austin), 2021-02, Vol.217 (2)

2021

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Nature genetics, 2007-09, Vol.39 (9), p.1071-1073

2007

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Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms

Developmental medicine and child neurology, 2022-05, Vol.64 (5), p.633-640

2022

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BPA exposure is associated with non-monotonic alteration in ESR1 promoter methylation in peripheral blood of men and shorter relative telomere length in peripheral blood of women

Journal of exposure science & environmental epidemiology, 2019-01, Vol.29 (1), p.118-128

2019

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Copy number variation at 1q21.1 associated with neuroblastoma

Nature (London), 2009-06, Vol.459 (7249), p.987-991

2009

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Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Genome medicine, 2012-10, Vol.4 (10), p.80-80, Article 80

2012

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Reviewing the evidence on vasomotor symptoms: the role of traditional and non-traditional factors

Climacteric : the journal of the International Menopause Society, 2020-05, Vol.23 (3), p.213-223

2020

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Inadequate prenatal care use among Canadian mothers: findings from the Maternity Experiences Survey

Journal of perinatology, 2016-06, Vol.36 (6), p.420-426

2016

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Genome-wide copy number variations in a large cohort of bantu African children

BMC medical genomics, 2021-05, Vol.14 (1), p.129-11, Article 129

2021

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CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

BMC bioinformatics, 2010-02, Vol.11 (1), p.74-74, Article 74

2010

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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Assessing climate-induced agricultural vulnerable coastal communities of Bangladesh using machine learning techniques

Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a Novel BRAF Fusion Gene

Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

Can CT and MRI features differentiate benign from malignant meningiomas?

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Association of protein intake with the outcomes of critically ill patients: a post hoc analysis of the PermiT trial

22q11.2 Low Copy Repeats Expanded in the Human Lineage

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

Role of circulating miR-182 and miR-150 as biomarkers for cirrhosis and hepatocellular carcinoma post HCV infection in Egyptian patients

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Prevalence and characteristics of water-pipe smoking in Canada: results from the Canadian Tobacco Use Monitoring Survey

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms

BPA exposure is associated with non-monotonic alteration in ESR1 promoter methylation in peripheral blood of men and shorter relative telomere length in peripheral blood of women

Copy number variation at 1q21.1 associated with neuroblastoma

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Reviewing the evidence on vasomotor symptoms: the role of traditional and non-traditional factors

Inadequate prenatal care use among Canadian mothers: findings from the Maternity Experiences Survey

Genome-wide copy number variations in a large cohort of bantu African children

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

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