| Increased LIS1 expression affects human and mouse brain development W Bi, T Sapir, OA Shchelochkov, F Zhang, MA Withers, JV Hunter, T Levy, ... Nature genetics 41 (2), 168-177, 2009 | 245 | 2009 |
| Requirement of argininosuccinate lyase for systemic nitric oxide production A Erez, SCS Nagamani, OA Shchelochkov, MH Premkumar, ... Nature medicine 17 (12), 1619-1626, 2011 | 223 | 2011 |
| Chromosome 8p23. 1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia MJ Wat, OA Shchelochkov, AM Holder, AM Breman, A Dagli, C Bacino, ... American Journal of Medical Genetics Part A 149 (8), 1661-1677, 2009 | 186 | 2009 |
| Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13. 3 result in facial dysmorphisms, growth restriction, and cognitive impairment SCS Nagamani, F Zhang, OA Shchelochkov, W Bi, Z Ou, F Scaglia, ... Journal of medical genetics 46 (12), 825-833, 2009 | 144 | 2009 |
| Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B A Shaibani, OA Shchelochkov, S Zhang, P Katsonis, O Lichtarge, ... Archives of neurology 66 (8), 1028-1032, 2009 | 136 | 2009 |
| Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions CP Schaaf, PM Boone, S Sampath, C Williams, PI Bader, JM Mueller, ... European Journal of Human Genetics 20 (12), 1240-1247, 2012 | 132 | 2012 |
| Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control B Lee, W Rhead, GA Diaz, BF Scharschmidt, A Mian, O Shchelochkov, ... Molecular genetics and metabolism 100 (3), 221-228, 2010 | 121 | 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 | 119 | 2014 |
| Propionic acidemia OA Shchelochkov, N Carrillo, C Venditti | 113 | 2016 |
| Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia MJ Wat, D Veenma, J Hogue, AM Holder, Z Yu, JJ Wat, N Hanchard, ... Journal of medical genetics 48 (5), 299-307, 2011 | 102 | 2011 |
| Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria SCS Nagamani, PM Campeau, OA Shchelochkov, MH Premkumar, ... The American Journal of Human Genetics 90 (5), 836-846, 2012 | 93 | 2012 |
| Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome AW Lindsley, HM Saal, TA Burrow, RJ Hopkin, O Shchelochkov, ... Journal of Allergy and Clinical Immunology 137 (1), 179-187. e10, 2016 | 92 | 2016 |
| A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias I Manoli, JG Myles, JL Sloan, OA Shchelochkov, CP Venditti Genetics in Medicine 18 (4), 386-395, 2016 | 88 | 2016 |
| Signaling pathways in human skeletal dysplasias D Baldridge, O Shchelochkov, B Kelley, B Lee Annual Review of Genomics and Human Genetics 11, 189-217, 2010 | 77 | 2010 |
| Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and … M Nimmakayalu, H Major, V Sheffield, DH Solomon, RJ Smith, SR Patil, ... American journal of medical genetics Part A 155 (2), 418-423, 2011 | 72 | 2011 |
| Clinical and environmental influences on metabolic biomarkers collected for newborn screening KK Ryckman, SL Berberich, OA Shchelochkov, DE Cook, JC Murray Clinical biochemistry 46 (1-2), 133-138, 2013 | 71 | 2013 |
| High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH OA Shchelochkov, FY Li, MT Geraghty, RC Gallagher, JL Van Hove, ... Molecular genetics and metabolism 96 (3), 97-105, 2009 | 69 | 2009 |
| Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism A Erez, OA Shchelochkov, SE Plon, F Scaglia, B Lee The American Journal of Human Genetics 88 (4), 402-421, 2011 | 65 | 2011 |
| Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations J Häberle, OA Shchelochkov, J Wang, P Katsonis, L Hall, S Reiss, A Eeds, ... Human mutation 32 (6), 579-589, 2011 | 61 | 2011 |
| Duplication of chromosome band 12q24. 11q24. 23 results in apparent Noonan syndrome OA Shchelochkov, A Patel, GM Weissenberger, AC Chinault, ... American Journal of Medical Genetics Part A 146 (8), 1042-1048, 2008 | 61 | 2008 |
