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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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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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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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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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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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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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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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Comparing febrile children presenting on and off antibiotics to the emergency department: a retrospective cohort study

BMC pediatrics, 2020-03, Vol.20 (1), p.117-8, Article 117

2020

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

Public health (London), 2018-12, Vol.165, p.42-47

2018

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Early Menarche Predicts Incidence of Asthma in Early Adulthood

American journal of epidemiology, 2011-01, Vol.173 (1), p.64-70

2011

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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

Developmental biology, 2014-12, Vol.396 (1), p.94-106

2014

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Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish

Biology open, 2020-01

2020

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Author response to letter to editor. Re: Quantification of epi- and pericardial adipose tissue deposits between males and females during cardiac CT may potentially help categorize coronary artery disease risk with thoracic circumference

Radiography (London, England. 1995), 2021-08, Vol.27 (3), p.989-989

2021

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X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Pediatric neurology, 2017-06, Vol.71, p.65-69

2017

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Segmental duplications: an 'expanding' role in genomic instability and disease

Nature reviews. Genetics, 2001-10, Vol.2 (10), p.791-800

2001

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Effect of narghile and cigarette smoking on newborn birthweight

BJOG : an international journal of obstetrics and gynaecology, 2008-01, Vol.115 (1), p.91-97

2008

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Alternative diagnoses in patients referred to specialized centers for suspected MS

Multiple sclerosis and related disorders, 2017-11, Vol.18, p.85-89

2017

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Remote ischemic conditioning in a rat model of testicular torsion: does it offer testicular protection?

Journal of pediatric urology, 2019-02, Vol.15 (1), p.43.e1-43.e7

2019

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Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

Human molecular genetics, 2011-03, Vol.20 (5), p.880-893

2011

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Crohn's disease: A retrospective analysis between computed tomography enterography, colonoscopy, and histopathology

Radiography (London, England. 1995), 2019-11, Vol.25 (4), p.349-358

2019

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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

Can CT and MRI features differentiate benign from malignant meningiomas?

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

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

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

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

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

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

Comparing febrile children presenting on and off antibiotics to the emergency department: a retrospective cohort study

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

Early Menarche Predicts Incidence of Asthma in Early Adulthood

Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish

Author response to letter to editor. Re: Quantification of epi- and pericardial adipose tissue deposits between males and females during cardiac CT may potentially help categorize coronary artery disease risk with thoracic circumference

X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Segmental duplications: an 'expanding' role in genomic instability and disease

Effect of narghile and cigarette smoking on newborn birthweight

Alternative diagnoses in patients referred to specialized centers for suspected MS

Remote ischemic conditioning in a rat model of testicular torsion: does it offer testicular protection?

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

Crohn's disease: A retrospective analysis between computed tomography enterography, colonoscopy, and histopathology

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