| Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients JM Friedman, PH Birch American journal of medical genetics 70 (2), 138-143, 1997 | 516 | 1997 |
| 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 | 363 | 2006 |
| Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 AE Lin, PH Birch, BR Korf, R Tenconi, M Niimura, M Poyhonen, ... American journal of medical genetics 95 (2), 108-117, 2000 | 282 | 2000 |
| Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1) DH Gutmann, SA Rasmussen, P Wolkenstein, MM MacCollin, A Guha, ... Neurology 59 (5), 759-761, 2002 | 178 | 2002 |
| Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options F Elefteriou, M Kolanczyk, A Schindeler, DH Viskochil, JM Hock, ... American journal of medical genetics Part A 149 (10), 2327-2338, 2009 | 175 | 2009 |
| “I want to know what's in Pandora's box”: comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing A Townsend, S Adam, PH Birch, Z Lohn, F Rousseau, JM Friedman American Journal of Medical Genetics Part A 158 (10), 2519-2525, 2012 | 169 | 2012 |
| Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1 DA Stevenson, PH Birch, JM Friedman, DH Viskochil, P Balestrazzi, ... American journal of medical genetics 84 (5), 413-419, 1999 | 147 | 1999 |
| Growth in North American white children with neurofibromatosis 1 (NF1) J Szudek, P Birch, JM Friedman Journal of Medical Genetics 37 (12), 933-938, 2000 | 122 | 2000 |
| Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID NL Makela, PH Birch, JM Friedman, CA Marra American Journal of Medical Genetics Part A 149 (11), 2393-2402, 2009 | 117 | 2009 |
| Associations of clinical features in neurofibromatosis 1 (NF1) J Szudek, P Birch, VM Riccardi, DG Evans, JM Friedman Genetic Epidemiology: The Official Publication of the International Genetic …, 2000 | 104 | 2000 |
| Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients K Khosrotehrani, S Bastuji‐Garin, VM Riccardi, P Birch, JM Friedman, ... American Journal of Medical Genetics Part A 132 (1), 49-53, 2005 | 89 | 2005 |
| The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review N Dragojlovic, K Borle, N Kopac, U Ellis, P Birch, S Adam, JM Friedman, ... Genetics in Medicine 22 (9), 1437-1449, 2020 | 83 | 2020 |
| Genetics professionals' perspectives on reporting incidental findings from clinical genome‐wide sequencing Z Lohn, S Adam, P Birch, A Townsend, J Friedman American Journal of Medical Genetics Part A 161 (3), 542-549, 2013 | 68 | 2013 |
| Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data Á Baross, AD Delaney, HI Li, T Nayar, S Flibotte, H Qian, SY Chan, ... BMC bioinformatics 8, 1-18, 2007 | 67 | 2007 |
| The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1. SM Gorski, KJ Adams, PH Birch, JM Friedman, PJ Goodfellow American journal of human genetics 50 (5), 1129, 1992 | 64 | 1992 |
| Associations of osseous abnormalities in Neurofibromatosis 1 S Alwan, L Armstrong, H Joe, PH Birch, J Szudek, JM Friedman American Journal of Medical Genetics Part A 143 (12), 1326-1333, 2007 | 61 | 2007 |
| Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard A Townsend, S Adam, PH Birch, JM Friedman Genetics in Medicine 15 (9), 751-752, 2013 | 59 | 2013 |
| Costs of caring for children with an intellectual developmental disorder D Genereaux, CDM van Karnebeek, PH Birch Disability and health journal 8 (4), 646-651, 2015 | 53 | 2015 |
| An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1 JM Friedman, P Birch Neuropediatrics 28 (02), 131-132, 1997 | 52 | 1997 |
| Incidental findings from clinical genome-wide sequencing: a review Z Lohn, S Adam, PH Birch, JM Friedman Journal of Genetic Counseling 23, 463-473, 2014 | 51 | 2014 |
