| Patient-customized oligonucleotide therapy for a rare genetic disease J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ... New England Journal of Medicine 381 (17), 1644-1652, 2019 | 569 | 2019 |
| Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin–binding protein, cofilin-2 PB Agrawal, RS Greenleaf, KK Tomczak, VL Lehtokari, ... The American Journal of Human Genetics 80 (1), 162-167, 2007 | 268 | 2007 |
| Newborn sequencing in genomic medicine and public health JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ... Pediatrics 139 (2), 2017 | 235 | 2017 |
| Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo, WY Timothy, S Fayer, ... The American Journal of Human Genetics 104 (1), 76-93, 2019 | 234 | 2019 |
| Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy O Ceyhan-Birsoy, PB Agrawal, C Hidalgo, K Schmitz-Abe, ET DeChene, ... Neurology 81 (14), 1205-1214, 2013 | 221 | 2013 |
| SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy PB Agrawal, CR Pierson, M Joshi, X Liu, G Ravenscroft, ... The American Journal of Human Genetics 95 (2), 218-226, 2014 | 166 | 2014 |
| The BabySeq project: implementing genomic sequencing in newborns IA Holm, PB Agrawal, O Ceyhan-Birsoy, KD Christensen, S Fayer, ... BMC pediatrics 18, 1-10, 2018 | 159 | 2018 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 157 | 2017 |
| Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations PB Agrawal, CD Strickland, C Midgett, A Morales, DE Newburger, ... Annals of neurology 56 (1), 86-96, 2004 | 154 | 2004 |
| X-linked myotubular and centronuclear myopathies CR Pierson, K Tomczak, P Agrawal, B Moghadaszadeh, AH Beggs Journal of Neuropathology & Experimental Neurology 64 (7), 555-564, 2005 | 123 | 2005 |
| A curated gene list for reporting results of newborn genomic sequencing O Ceyhan-Birsoy, K Machini, MS Lebo, TW Yu, PB Agrawal, RB Parad, ... Genetics in Medicine 19 (7), 809-818, 2017 | 110 | 2017 |
| BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells D Lessel, C Gehbauer, NC Bramswig, C Schluth-Bolard, ... Brain 141 (8), 2299-2311, 2018 | 105 | 2018 |
| Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities–support for the role of K (ATP) channels in this condition CA Brownstein, MC Towne, LJ Luquette, DJ Harris, NS Marinakis, ... European journal of medical genetics 56 (12), 678-682, 2013 | 104 | 2013 |
| Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield CS Gubbels, GE VanNoy, JA Madden, D Copenheaver, S Yang, ... Genetics in Medicine 22 (4), 736-744, 2020 | 98 | 2020 |
| Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of … PB Agrawal, M Joshi, T Savic, Z Chen, AH Beggs Human molecular genetics 21 (10), 2341-2356, 2012 | 98 | 2012 |
| Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores K Majczenko, AE Davidson, S Camelo-Piragua, PB Agrawal, ... The American Journal of Human Genetics 91 (2), 365-371, 2012 | 93 | 2012 |
| Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project CA Genetti, TS Schwartz, JO Robinson, GE VanNoy, D Petersen, ... Genetics in Medicine 21 (3), 622-630, 2019 | 91 | 2019 |
| Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU C Depienne, C Nava, B Keren, S Heide, A Rastetter, S Passemard, ... Human genetics 136, 463-479, 2017 | 89 | 2017 |
| Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases FM De La Vega, S Chowdhury, B Moore, E Frise, J McCarthy, ... Genome Medicine 13, 1-19, 2021 | 86 | 2021 |
| Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension C Galambos, MP Mullen, JT Shieh, N Schwerk, MJ Kielt, N Ullmann, ... European Respiratory Journal 54 (2), 2019 | 85 | 2019 |
