| Osteopetrosis Z Stark, R Savarirayan Orphanet journal of rare diseases 4, 1-12, 2009 | 678 | 2009 |
| Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases MM Clark, Z Stark, L Farnaes, TY Tan, SM White, D Dimmock, ... NPJ genomic medicine 3 (1), 16, 2018 | 603 | 2018 |
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genetics in medicine 18 (11), 1090-1096, 2016 | 416 | 2016 |
| Integrating genomics into healthcare: a global responsibility Z Stark, L Dolman, TA Manolio, B Ozenberger, SL Hill, MJ Caulfied, ... The American Journal of Human Genetics 104 (1), 13-20, 2019 | 360 | 2019 |
| Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ... JAMA pediatrics 171 (9), 855-862, 2017 | 329 | 2017 |
| Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, MC Vincent, ... Human mutation 31 (2), 113-126, 2010 | 259 | 2010 |
| Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement Z Stark, D Schofield, K Alam, W Wilson, N Mupfeki, I Macciocca, ... Genetics in Medicine 19 (8), 867-874, 2017 | 247 | 2017 |
| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 192 | 2021 |
| The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care BT Wilson, Z Stark, RE Sutton, S Danda, AV Ekbote, SM Elsayed, ... Genetics in medicine 18 (5), 483-493, 2016 | 190 | 2016 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 190 | 2014 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 170 | 2020 |
| Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1 MP Guy, M Shaw, CL Weiner, L Hobson, Z Stark, K Rose, VM Kalscheuer, ... Human mutation 36 (12), 1176-1187, 2015 | 167 | 2015 |
| Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness Z Stark, D Schofield, M Martyn, L Rynehart, R Shrestha, K Alam, S Lunke, ... Genetics in Medicine 21 (1), 173-180, 2019 | 165 | 2019 |
| Meeting the challenges of implementing rapid genomic testing in acute pediatric care Z Stark, S Lunke, GR Brett, NB Tan, R Stapleton, S Kumble, A Yeung, ... Genetics in Medicine 20 (12), 1554-1563, 2018 | 150 | 2018 |
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013 | 140 | 2013 |
| Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders OJ Dillon, S Lunke, Z Stark, A Yeung, N Thorne, ... European Journal of Human Genetics 26 (5), 644-651, 2018 | 139 | 2018 |
| Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy K Tuz, R Bachmann-Gagescu, DR O’Day, K Hua, CR Isabella, IG Phelps, ... The American Journal of Human Genetics 94 (1), 62-72, 2014 | 129 | 2014 |
| 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 | 128 | 2017 |
| SYT1-associated neurodevelopmental disorder: a case series K Baker, SL Gordon, H Melland, F Bumbak, DJ Scott, TJ Jiang, D Owen, ... Brain 141 (9), 2576-2591, 2018 | 125 | 2018 |
| KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, ... Genetics in Medicine 21 (4), 850-860, 2019 | 105 | 2019 |
Paul A JamesClinical GeneticistGeverifieerd e-mailadres voor petermac.org
