Farah R Zahir

发表

Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action

Carolyn J. Brown, F. Zahir, Carolyn J Brown, 2011, Pediatric Research.

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility

F. Zahir, J. Friedman, J. Friedman, 2007, Clinical genetics.

Recent Major Transcriptomics and Epitranscriptomics Contributions toward Personalized and Precision Medicine

F. Zahir, Farah R Zahir, Ghada Mubarak, 2022, Journal of personalized medicine.

The Need for Precision Therapies as Determined by Genetic Signature for Cystic Fibrosis

F. Zahir, Farah R Zahir, 2021, Journal of personalized medicine.

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Sarah Barber, Steven J. M. Jones, Martin Krzywinski, 2006, American journal of human genetics.

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

Allen D. Delaney, M. Marra, A. Delaney, 2013, European Journal of Human Genetics.

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

M. Marra, F. Zahir, S. Langlois, 2019, Journal of Human Genetics.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Jan M Friedman, Lionel Willatt, Howard Martin, 2007, Journal of Medical Genetics.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Allen D. Delaney, M. Marra, A. Delaney, 2009, BMC Genomics.

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

M. Marra, F. Zahir, S. Langlois, 2009, American journal of medical genetics. Part A.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014, Genetics in Medicine.

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Steven J. M. Jones, M. Marra, K. Mungall, 2017, BMC Genomics.

The pathogenicity of copy number variants in children with intellectual disability

F. Zahir, Farah R Zahir, 2011 .

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Maternal Prenatal Exposures in Pregnancy and Autism Spectrum Disorder: An Insight into the Epigenetics of Drugs and Diet as Key Environmental Influences.

F. Zahir, Farah R Zahir, S. Alwan, 2020, Advances in neurobiology.

Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders

F. Zahir, Farah R Zahir, Heba Yasin, 2020 .

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

M. Marra, K. Mungall, Hye-Jung E. Chun, 2017, BMC Genomics.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Issues in intergovernmental fiscal transfers: public finance and political economy considerations

Serdar Yilmaz, Farah R Zahir, 2020 .

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

M. Marra, K. Buysse, G. Mortier, 2007, Journal of Medical Genetics.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2023, Genetics in Medicine.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

M. Marra, F. Zahir, A. Lehman, 2009, European journal of medical genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α

J M Friedman, M. Marra, A. Delaney, 2007, Journal of Medical Genetics.