| Biparental inheritance of mitochondrial DNA in humans S Luo, CA Valencia, J Zhang, NC Lee, J Slone, B Gui, X Wang, Z Li, ... Proceedings of the National Academy of Sciences 115 (51), 13039-13044, 2018 | 498 | 2018 |
| Maple syrup urine disease: mechanisms and management PR Blackburn, JM Gass, FPE Vairo, KM Farnham, HK Atwal, S Macklin, ... The application of clinical genetics, 57-66, 2017 | 206 | 2017 |
| 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 | 180 | 2014 |
| Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome PR Blackburn, Z Xu, KE Tumelty, RW Zhao, WJ Monis, KG Harris, ... The American Journal of Human Genetics 102 (4), 696-705, 2018 | 133 | 2018 |
| Sex differences in inflammation, redox biology, mitochondria and autoimmunity DN Di Florio, J Sin, MJ Coronado, PS Atwal, DL Fairweather Redox biology 31, 101482, 2020 | 131 | 2020 |
| Observed frequency and challenges of variant reclassification in a hereditary cancer clinic S Macklin, N Durand, P Atwal, S Hines Genetics in Medicine 20 (3), 346-350, 2018 | 106 | 2018 |
| Molybdenum cofactor deficiency PS Atwal, F Scaglia Molecular genetics and metabolism 117 (1), 1-4, 2016 | 105 | 2016 |
| Clinical whole-exome sequencing: are we there yet? PS Atwal, ML Brennan, R Cox, M Niaki, J Platt, M Homeyer, A Kwan, ... Genetics in Medicine 16 (9), 717-719, 2014 | 82 | 2014 |
| Physician interpretation of variants of uncertain significance SK Macklin, JL Jackson, PS Atwal, SL Hines Familial cancer 18, 121-126, 2019 | 71 | 2019 |
| Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure M Reichold, ED Klootwijk, J Reinders, EA Otto, M Milani, C Broeker, ... Journal of the American Society of Nephrology 29 (7), 1849-1858, 2018 | 66 | 2018 |
| Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ... Genome medicine 13, 1-26, 2021 | 62 | 2021 |
| Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma PS Atwal, TR Donti, AL Cardon, CA Bacino, Q Sun, L Emrick, VR Sutton, ... Molecular Genetics and Metabolism 115 (2-3), 91-94, 2015 | 59 | 2015 |
| Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum TR Donti, G Cappuccio, L Hubert, J Neira, PS Atwal, MJ Miller, AL Cardon, ... Molecular genetics and metabolism reports 8, 61-66, 2016 | 58 | 2016 |
| Holocarboxylase synthetase deficiency pre and post newborn screening TR Donti, PR Blackburn, PS Atwal Molecular genetics and metabolism reports 7, 40-44, 2016 | 44 | 2016 |
| Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome PS Atwal JIMD Reports, Volume 14, 43-45, 2013 | 40 | 2013 |
| Impact of integrated translational research on clinical exome sequencing EW Klee, MA Cousin, F Pinto e Vairo, JA Morales-Rosado, EL Macke, ... Genetics in Medicine 23 (3), 498-507, 2021 | 37 | 2021 |
| De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms S Jansen, IM van der Werf, AM Innes, A Afenjar, PB Agrawal, IJ Anderson, ... European Journal of Human Genetics 27 (5), 738-746, 2019 | 36 | 2019 |
| Silent tyrosinemia type I without elevated tyrosine or succinylacetone associated with liver cirrhosis and hepatocellular carcinoma PR Blackburn, RD Hickey, RA Nace, NH Giama, DL Kraft, AJ Bordner, ... Human mutation 37 (10), 1097-1105, 2016 | 31 | 2016 |
| Sex differences, genetic and environmental influences on dilated cardiomyopathy A Jain, N Norton, KA Bruno, LT Cooper Jr, PS Atwal, DL Fairweather Journal of clinical medicine 10 (11), 2289, 2021 | 28 | 2021 |
| Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R PS Atwal, S Blease, A Braxton, J Graves, W He, R Person, L Slattery, ... American Journal of Medical Genetics Part A 170 (4), 891-895, 2016 | 28 | 2016 |
Patrick R. BlackburnDepartment of Pathology, St. Jude Children's Research Hospital在 stjude.org 的电子邮件经过验证
