| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 418 | 2016 |
| Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation JM Friedman, Á Baross, AD Delaney, A Ally, L Arbour, J Asano, DK Bailey, ... The American Journal of Human Genetics 79 (3), 500-513, 2006 | 358 | 2006 |
| Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway GM Enns, V Shashi, M Bainbridge, MJ Gambello, FR Zahir, T Bast, ... Genetics in Medicine 16 (10), 751-758, 2014 | 227 | 2014 |
| A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α FR Zahir, A Baross, AD Delaney, P Eydoux, ND Fernandes, T Pugh, ... Journal of medical genetics 45 (4), 239-243, 2008 | 164 | 2008 |
| ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 108 | 2017 |
| Novel deletions of 14q11. 2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children F Zahir, HV Firth, A Baross, AD Delaney, P Eydoux, WT Gibson, ... Journal of medical genetics 44 (9), 556-561, 2007 | 99 | 2007 |
| Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 B Menten, K Buysse, F Zahir, J Hellemans, SJ Hamilton, T Costa, ... Journal of medical genetics 44 (4), 264-268, 2007 | 94 | 2007 |
| The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility F Zahir, JM Friedman Clinical genetics 72 (4), 271-287, 2007 | 82 | 2007 |
| Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action FR Zahir, CJ Brown Pediatric research 69 (8), 92-100, 2011 | 78 | 2011 |
| Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13. 3 cause a novel recognisable syndrome B Thienpont, F Béna, J Breckpot, N Philip, B Menten, H Van Esch, ... Journal of medical genetics 47 (3), 155-161, 2010 | 75 | 2010 |
| Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes T Tucker, FR Zahir, M Griffith, A Delaney, D Chai, E Tsang, E Lemyre, ... European Journal of Human Genetics 22 (6), 792-800, 2014 | 54 | 2014 |
| A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8 H Yasin, WT Gibson, S Langlois, RM Stowe, ES Tsang, L Lee, J Poon, ... Journal of human genetics 64 (4), 271-280, 2019 | 48 | 2019 |
| MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis CCY Mak, D Doherty, AE Lin, N Vegas, MT Cho, G Viot, C Dimartino, ... Brain 143 (1), 55-68, 2020 | 41 | 2020 |
| Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization JM Friedman, S Adam, L Arbour, L Armstrong, A Baross, P Birch, ... BMC genomics 10, 1-20, 2009 | 39 | 2009 |
| A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7 AM Lehman, JM Friedman, D Chai, FR Zahir, MA Marra, L Prisman, ... European journal of medical genetics 52 (6), 436-439, 2009 | 26 | 2009 |
| Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability FR Zahir, JC Mwenifumbo, HJE Chun, EL Lim, CDM Van Karnebeek, ... BMC genomics 18, 1-16, 2017 | 25 | 2017 |
| Maternal prenatal exposures in pregnancy and autism spectrum disorder: an insight into the epigenetics of drugs and diet as key environmental influences KN Bastaki, S Alwan, FR Zahir Personalized food intervention and therapy for autism spectrum disorder …, 2020 | 19 | 2020 |
| A novel de novo 1.1 Mb duplication of 17q21. 33 associated with cognitive impairment and other anomalies FR Zahir, S Langlois, K Gall, P Eydoux, MA Marra, JM Friedman American Journal of Medical Genetics Part A 149 (6), 1257-1262, 2009 | 19 | 2009 |
| Use of Affymetrix arrays in the diagnosis of gene copy‐number variation FR Zahir, MA Marra Current Protocols in Human Genetics 85 (1), 8.13. 1-8.13. 13, 2015 | 17 | 2015 |
| Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes FR Zahir, T Tucker, S Mayo, CJ Brown, EL Lim, J Taylor, MA Marra, ... American Journal of Medical Genetics Part A 170 (11), 2916-2926, 2016 | 15 | 2016 |
