| P heno t ips: Patient phenotyping software for clinical and research use M Girdea, S Dumitriu, M Fiume, S Bowdin, KM Boycott, S Chénier, ... Human mutation 34 (8), 1057-1065, 2013 | 247 | 2013 |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 178 | 2014 |
| Delineating the 15q13. 3 microdeletion phenotype: a case series and comprehensive review of the literature C Lowther, G Costain, DJ Stavropoulos, R Melvin, CK Silversides, ... Genetics in Medicine 17 (2), 149-157, 2015 | 141 | 2015 |
| De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes MC Gil‐Rodríguez, MA Deardorff, M Ansari, CA Tan, I Parenti, ... Human mutation 36 (4), 454-462, 2015 | 108 | 2015 |
| CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems S Chénier, G Yoon, B Argiropoulos, J Lauzon, R Laframboise, JW Ahn, ... Journal of neurodevelopmental disorders 6, 1-9, 2014 | 104 | 2014 |
| Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations J So, V Suckow, Z Kijas, V Kalscheuer, B Moser, J Winter, M Baars, H Firth, ... American Journal of Medical Genetics Part A 132 (1), 1-7, 2005 | 89 | 2005 |
| Psychiatric disorders in Ehlers–Danlos syndrome are frequent, diverse and strongly associated with pain SA Hershenfeld, S Wasim, V McNiven, M Parikh, P Majewski, H Faghfoury, ... Rheumatology International 36, 341-348, 2016 | 87 | 2016 |
| A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype G Beunders, J Van De Kamp, P Vasudevan, J Morton, K Smets, ... Journal of Medical Genetics 53 (8), 523-532, 2016 | 59 | 2016 |
| Encoding of human basic and glycosylated proline-rich proteins by the PRB gene complex and proteolytic processing of their precursor proteins M Stubbs, J Chan, A Kwan, J So, U Barchynsky, M Rassouli-Rahsti, ... Archives of oral biology 43 (10), 753-770, 1998 | 52 | 1998 |
| Buschke-Ollendorff syndrome: a novel case series and systematic review LCI Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G British Journal of Dermatology 174 (4), 723-9, 2016 | 41 | 2016 |
| Deletion of 15q11. 2 (BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population B Hashemi, A Bassett, D Chitayat, K Chong, M Feldman, J Flanagan, ... American Journal of Medical Genetics Part A 167 (9), 2098-2102, 2015 | 39 | 2015 |
| The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature P Sinajon, D Verbaan, J So Human genetics 135, 841-850, 2016 | 38 | 2016 |
| Point mutations in GLI3 lead to misregulation of its subcellular localization S Krauß, J So, M Hambrock, A Köhler, M Kunath, C Scharff, M Wessling, ... PLoS One 4 (10), e7471, 2009 | 38 | 2009 |
| Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features MA Rafiq, CS Leblond, MAN Saqib, AK Vincent, A Ambalavanan, ... BMC medical genetics 16, 1-10, 2015 | 35 | 2015 |
| Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family A Mir, K Sritharan, K Mittal, N Vasli, C Araujo, T Jamil, MA Rafiq, Z Anwar, ... Human genetics 133, 975-984, 2014 | 34 | 2014 |
| Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review L McGillis, N Mittal, D Santa Mina, J So, M Soowamber, A Weinrib, ... American journal of medical genetics Part A 182 (3), 484-492, 2020 | 31 | 2020 |
| Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a … S Wasim, JS Suddaby, M Parikh, S Leylachian, B Ho, A Guerin, J So Rheumatology International 39 (7), 1241-1248, 2019 | 28 | 2019 |
| Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability K Mittal, MA Rafiq, R Rafiullah, R Harripaul, H Ali, M Ayaz, M Aslam, ... Journal of human genetics 61 (10), 867-872, 2016 | 25 | 2016 |
| Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region J So, T Stockley, DJ Stavropoulos American Journal of Medical Genetics Part A 164 (2), 511-515, 2014 | 24 | 2014 |
| Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study S Shickh, MG Salazar, KR Zakoor, C Lázaro, J Gu, J Goltz, D Kleinman, ... Journal of medical genetics 58 (4), 275-283, 2021 | 21 | 2021 |
