| Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements P Liu, A Erez, SCS Nagamani, SU Dhar, KE Kołodziejska, ... Cell 146 (6), 889-903, 2011 | 459 | 2011 |
| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 415 | 2017 |
| Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder EA Normand, A Braxton, S Nassef, PA Ward, F Vetrini, W He, V Patel, ... Genome medicine 10, 1-14, 2018 | 138 | 2018 |
| Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder P Szafranski, AV Dharmadhikari, E Brosens, P Gurha, KE Kołodziejska, ... Genome research 23 (1), 23-33, 2013 | 138 | 2013 |
| Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain P Sen, Y Yang, C Navarro, I Silva, P Szafranski, KE Kolodziejska, ... Human mutation 34 (6), 801-811, 2013 | 108 | 2013 |
| Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ... Human genetics 135, 569-586, 2016 | 97 | 2016 |
| Causal genetic variants in stillbirth KE Stanley, J Giordano, V Thorsten, C Buchovecky, A Thomas, ... New England Journal of Medicine 383 (12), 1107-1116, 2020 | 74 | 2020 |
| Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies H Cheng, AV Dharmadhikari, S Varland, N Ma, D Domingo, R Kleyner, ... The American Journal of Human Genetics 102 (5), 985-994, 2018 | 65 | 2018 |
| Genomic and epigenetic complexity of the FOXF1 locus in 16q24. 1: implications for development and disease A V Dharmadhikari, P Szafranski, V V Kalinichenko, P Stankiewicz Current Genomics 16 (2), 107-116, 2015 | 56 | 2015 |
| Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of … P Szafranski, AV Dharmadhikari, JA Wambach, CT Towe, FV White, ... American Journal of Medical Genetics Part A 164 (8), 2013-2019, 2014 | 56 | 2014 |
| Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats P Stankiewicz, S Kulkarni, AV Dharmadhikari, S Sampath, SS Bhatt, ... Human mutation 33 (1), 165-179, 2012 | 56 | 2012 |
| Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases AV Dharmadhikari, R Ghosh, BO Yuan, P Liu, H Dai, S Al Masri, J Scull, ... Genome medicine 11, 1-17, 2019 | 51 | 2019 |
| Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 AV Dharmadhikari, SHL Kang, P Szafranski, RE Person, S Sampath, ... Human molecular genetics 21 (15), 3345-3355, 2012 | 38 | 2012 |
| Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice P Sen, AV Dharmadhikari, T Majewski, MA Mohammad, TV Kalin, ... PloS one 9 (4), e94390, 2014 | 30 | 2014 |
| Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression AV Dharmadhikari, JJ Sun, K Gogolewski, BL Carofino, V Ustiyan, M Hill, ... Biology open 5 (11), 1595-1606, 2016 | 24 | 2016 |
| CD19 expression in acute leukemia is not restricted to the cytogenetically aberrant populations J Francis, AV Dharmadhikari, SNJ Sait, G Deeb, PK Wallace, ... Leukemia & lymphoma 54 (7), 1517-1520, 2013 | 20 | 2013 |
| Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite AV Dharmadhikari, T Gambin, P Szafranski, W Cao, FJ Probst, W Jin, ... BMC Medical Genetics 15, 1-13, 2014 | 19 | 2014 |
| Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels ER Riggs, TI Bingaman, CA Barry, A Behlmann, K Bluske, B Bostwick, ... Genetics in Medicine 24 (9), 1899-1908, 2022 | 11 | 2022 |
| Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency AH Abdelhakim, AV Dharmadhikari, SD Ragi, JRL de Carvalho, CL Xu, ... Orphanet Journal of Rare Diseases 15, 1-12, 2020 | 11 | 2020 |
| Clinical exome sequencing for inherited retinal degenerations at a tertiary care center M Ganapathi, A Thomas-Wilson, C Buchovecky, A Dharmadhikari, ... Scientific Reports 12 (1), 9358, 2022 | 7 | 2022 |
