| 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 | 524 | 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 | 481 | 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), 74, 2018 | 184 | 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 | 140 | 2013 |
| 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 | 129 | 2020 |
| 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 | 124 | 2013 |
| Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ... Human genetics 135 (5), 569-586, 2016 | 116 | 2016 |
| 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 | 84 | 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 | 71 | 2015 |
| 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 | 64 | 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), 30, 2019 | 61 | 2019 |
| 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 |
| 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 | 47 | 2012 |
| 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 | 31 | 2016 |
| 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 | 31 | 2014 |
| 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 | 24 | 2013 |
| 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 | 23 | 2022 |
| 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), 128, 2014 | 18 | 2014 |
| 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 | 17 | 2022 |
| Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency AH Abdelhakim, AV Dharmadhikari, SD Ragi, JRL de Carvalho Jr, CL Xu, ... Orphanet Journal of Rare Diseases 15 (1), 320, 2020 | 17 | 2020 |
