| Genetic identification of familial hypercholesterolemia within a single US health care system NS Abul-Husn, K Manickam, LK Jones, EA Wright, DN Hartzel, ... Science 354 (6319), aaf7000, 2016 | 424 | 2016 |
| Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical … K Manickam, MR McClain, LA Demmer, S Biswas, HM Kearney, ... Genetics in Medicine 23 (11), 2029-2037, 2021 | 326 | 2021 |
| Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis N Gomez-Ospina, CJ Potter, R Xiao, K Manickam, MS Kim, KH Kim, ... Nature communications 7 (1), 10713, 2016 | 296 | 2016 |
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly KL McBride, EA Varga, MT Pastore, TW Prior, K Manickam, JF Atkin, ... Autism Research 3 (3), 137-141, 2010 | 278 | 2010 |
| Exome sequencing–based screening for BRCA1/2 expected pathogenic variants among adult biobank participants K Manickam, AH Buchanan, MLB Schwartz, MLG Hallquist, JL Williams, ... JAMA Network Open 1 (5), e182140-e182140, 2018 | 200 | 2018 |
| A model for genome-first care: returning secondary genomic findings to participants and their healthcare providers in a large research cohort MLB Schwartz, CZ McCormick, AL Lazzeri, ML D’Andra, MLG Hallquist, ... The American Journal of Human Genetics 103 (3), 328-337, 2018 | 153 | 2018 |
| EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy S Byrne, L Jansen, JM U-King-Im, A Siddiqui, HGW Lidov, I Bodi, L Smith, ... Brain 139 (3), 765-781, 2016 | 110 | 2016 |
| Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate WL Charng, E Karaca, Z Coban Akdemir, T Gambin, MM Atik, S Gu, ... BMC medical genomics 9, 1-14, 2016 | 107 | 2016 |
| Validation of My Family Health Portrait for six common heritable conditions FM Facio, WG Feero, A Linn, N Oden, K Manickam, LG Biesecker Genetics in Medicine 12 (6), 370-375, 2010 | 88 | 2010 |
| Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases JA Rosenfeld, D Amrom, E Andermann, F Andermann, M Veilleux, ... Neurogenetics 13, 31-47, 2012 | 65 | 2012 |
| Reciprocal deletion and duplication at 2q23. 1 indicates a role for MBD5 in autism spectrum disorder SV Mullegama, JA Rosenfeld, C Orellana, BWM Van Bon, S Halbach, ... European Journal of Human Genetics 22 (1), 57-63, 2014 | 60 | 2014 |
| Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants AH Buchanan, K Manickam, MN Meyer, JK Wagner, MLG Hallquist, ... Genetics in Medicine 20 (5), 554-558, 2018 | 58 | 2018 |
| Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database SL Santoro, S Cannon, G Capone, C Franklin, SJ Hart, V Hobensack, ... Genetics in Medicine 22 (4), 767-776, 2020 | 51 | 2020 |
| DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics … MF Murray, MA Giovanni, DL Doyle, SM Harrison, E Lyon, K Manickam, ... Genetics in Medicine 23 (6), 989-995, 2021 | 49 | 2021 |
| Psychiatric conditions prevalent among adults with Down syndrome MJ Tassé, P Navas Macho, SM Havercamp, BA Benson, DC Allain, ... Journal of Policy and Practice in Intellectual Disabilities 13 (2), 173-180, 2016 | 46 | 2016 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 42 | 2021 |
| Medication therapy disease management: Geisinger’s approach to population health management LK Jones, G Greskovic, DM Grassi, J Graham, H Sun, MR Gionfriddo, ... American journal of health-system pharmacy 74 (18), 1422-1435, 2017 | 34 | 2017 |
| Direct-to-consumer personal genomic testing: a case study and practical recommendations for “genomic counseling” AC Sturm, K Manickam Journal of genetic counseling 21, 402-412, 2012 | 33 | 2012 |
| Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss A Morgan, DC Koboldt, ES Barrie, ER Crist, G García García, ... Human mutation 40 (12), 2286-2295, 2019 | 29 | 2019 |
| COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis S Durrani-Kolarik, K Manickam, B Chen Pediatric Neurology 66, 100-103, 2017 | 29 | 2017 |
