| Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements P Liu, A Erez, SCS Nagamani, SU Dhar, KE Kołodziejska, ... Cell 146 (6), 889-903, 2011 | 460 | 2011 |
| Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency M Renard, T Holm, R Veith, BL Callewaert, LC Adès, O Baspinar, ... European Journal of Human Genetics 18 (8), 895-901, 2010 | 166 | 2010 |
| Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations JJ Johnston, JC Sapp, JT Turner, D Amor, S Aftimos, KA Aleck, M Bocian, ... Human mutation 31 (10), 1142-1154, 2010 | 142 | 2010 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 120 | 2014 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 109 | 2020 |
| Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation M Koczkowska, T Callens, A Gomes, A Sharp, Y Chen, AD Hicks, ... Genetics in Medicine 21 (4), 867-876, 2019 | 82 | 2019 |
| Mutation analysis of B3GALTL in Peters Plus syndrome LM Reis, RC Tyler, O Abdul‐Rahman, P Trapane, R Wallerstein, ... American Journal of Medical Genetics Part A 146 (20), 2603-2610, 2008 | 63 | 2008 |
| Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange J Yan, F Zhang, E Brundage, A Scheuerle, B Lanpher, RP Erickson, ... Journal of medical genetics 46 (9), 626-634, 2009 | 59 | 2009 |
| ALG1‐CDG: clinical and molecular characterization of 39 unreported patients BG Ng, SA Shiryaev, D Rymen, EA Eklund, K Raymond, M Kircher, ... Human mutation 37 (7), 653-660, 2016 | 58 | 2016 |
| Cognitive and psychosocial phenotype of young children with neurofibromatosis-1 BP Klein-Tasman, KM Janke, W Luo, CL Casnar, SJ Hunter, J Tonsgard, ... Journal of the International Neuropsychological Society 20 (1), 88-98, 2014 | 48 | 2014 |
| The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia DP Dimmock, P Trapane, A Feigenbaum, CE Keegan, S Cederbaum, ... American Journal of Medical Genetics Part A 146 (22), 2885-2890, 2008 | 27 | 2008 |
| A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature P Ghataorhe, AW Kurian, A Pickart, P Trapane, JA Norton, K Kingham, ... Cancer genetics and cytogenetics 179 (2), 89-92, 2007 | 24 | 2007 |
| TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila LD Goodman, H Cope, Z Nil, TA Ravenscroft, WL Charng, S Lu, AC Tien, ... The American Journal of Human Genetics 108 (9), 1669-1691, 2021 | 23 | 2021 |
| Deletion 12q: a second patient with 12q24. 31q24. 32 deletion PL Plotner, JL Smith, H Northrup American Journal of Medical Genetics Part A 118 (4), 350-352, 2003 | 21 | 2003 |
| Congenital nephrotic syndrome in an infant with ALG1‐congenital disorder of glycosylation LA Harshman, BG Ng, HH Freeze, P Trapane, A Dolezal, PD Brophy, ... Pediatrics international 58 (8), 785-788, 2016 | 15 | 2016 |
| Genotype–phenotype correlation at codon 1740 of SETD2 R Rabin, A Radmanesh, IA Glass, WB Dobyns, KA Aldinger, JT Shieh, ... American Journal of Medical Genetics Part A 182 (9), 2037-2048, 2020 | 14 | 2020 |
| Trisomy 20q caused by der (4) t (4; 20)(q35; q13. 1): report of a new patient and review of the literature PL Plotner, JL Smith, H Northrup American journal of medical genetics 111 (1), 71-75, 2002 | 13 | 2002 |
| A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome SG Ghosh, M Scala, C Beetz, G Helman, V Stanley, X Yang, MW Breuss, ... European Journal of Human Genetics 29 (2), 271-279, 2021 | 12 | 2021 |
| Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders RF Sidonio, Jr, PC Bryant, J Di Paola, S Hale, M Heiman, GS Horowitz, ... Expert Review of Hematology 16 (sup1), 39-54, 2023 | 11 | 2023 |
| Relations between executive functioning and academic performance in adolescents with neurofibromatosis-1 KM Janke, BP Klein-Tasman, MM Garwood, WH Davies, P Trapane, ... Journal of Developmental and Physical Disabilities 26, 431-450, 2014 | 9 | 2014 |
