| Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11. 2DS DM McDonald-McGinn, S Fahiminiya, T Revil, BA Nowakowska, J Suhl, ... Journal of medical genetics 50 (2), 80-90, 2013 | 124 | 2013 |
| Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11. 2 deletion syndrome EE Mlynarski, MB Sheridan, M Xie, T Guo, SE Racedo, ... The American Journal of Human Genetics 96 (5), 753-764, 2015 | 74 | 2015 |
| Rare copy number variants and congenital heart defects in the 22q11. 2 deletion syndrome EE Mlynarski, M Xie, D Taylor, MB Sheridan, T Guo, SE Racedo, ... Human genetics 135, 273-285, 2016 | 65 | 2016 |
| INFERNO: inferring the molecular mechanisms of noncoding genetic variants A Amlie-Wolf, M Tang, EE Mlynarski, PP Kuksa, O Valladares, Z Katanic, ... Nucleic acids research 46 (17), 8740-8753, 2018 | 54 | 2018 |
| Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease BN Vardarajan, S Barral, J Jaworski, GW Beecham, E Blue, G Tosto, ... Annals of clinical and translational neurology 5 (4), 406-417, 2018 | 41 | 2018 |
| A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease X Zhang, C Zhu, G Beecham, BN Vardarajan, Y Ma, D Lancour, JJ Farrell, ... Alzheimer's & Dementia 15 (3), 441-452, 2019 | 38 | 2019 |
| Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 T Guo, GM Repetto, DM McDonald McGinn, JH Chung, H Nomaru, ... Circulation: Cardiovascular Genetics 10 (5), e001690, 2017 | 30 | 2017 |
| Inferring the molecular mechanisms of noncoding Alzheimer’s disease-associated genetic variants A Amlie-Wolf, M Tang, J Way, B Dombroski, M Jiang, N Vrettos, YF Chou, ... Journal of Alzheimer's Disease 72 (1), 301-318, 2019 | 27 | 2019 |
| Divergent patterns of breakpoint reuse in Muroid rodents EE Mlynarski, CJ Obergfell, MJ O’Neill, RJ O’Neill Mammalian Genome 21, 77-87, 2010 | 27 | 2010 |
| TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy C Alquezar, KM Schoch, EG Geier, EM Ramos, A Scrivo, KH Li, ... Science Advances 7 (45), eabg3897, 2021 | 24 | 2021 |
| Peromyscus maniculatus – Mus musculus chromosome homology map derived from reciprocal cross species chromosome painting EE Mlynarski, CJ Obergfell, W Rens, PCM O’Brien, CM Ramsdell, ... Cytogenetic and Genome Research 121 (3-4), 288-292, 2008 | 12 | 2008 |
| Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations S Correll-Tash, B Lilley, H Salmons IV, E Mlynarski, CP Franconi, ... Human Molecular Genetics 29 (24), 3872-3881, 2020 | 9 | 2020 |
| SparkINFERNO: a scalable high-throughput pipeline for inferring molecular mechanisms of non-coding genetic variants PP Kuksa, CY Lee, A Amlie-Wolf, P Gangadharan, EE Mlynarski, YF Chou, ... Bioinformatics 36 (12), 3879-3881, 2020 | 8 | 2020 |
| International Chromosome 22q11. 2 Consortium Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11. 2 deletion syndrome EE Mlynarski, MB Sheridan, M Xie, T Guo, SE Racedo, ... Am. J. Hum. Genet 96, 753-764, 2015 | 5 | 2015 |
| Centromere conversion and retention in somatic cell hybrids JD Brown, DM Carone, BL Flynn, CE Finn, EE Mlynarski, RJ O’Neill Cytogenetic and genome research 134 (3), 182-190, 2011 | 3 | 2011 |
| Using INFERNO to infer the molecular mechanisms underlying noncoding genetic associations A Amlie-Wolf, PP Kuksa, CY Lee, E Mlynarski, YY Leung, LS Wang Functional Analysis of Long Non-Coding RNAs: Methods and Protocols, 73-91, 2021 | 2 | 2021 |
| Selected publications MA Hamed, SA Mohamed, MA Eltaher Journal of Nano Research 57, 158-174, 2019 | 2 | 2019 |
| A unique late-replicating XY to autosome translocation in Peromyscus melanophrys EE Mlynarski, C Obergfell, MJ Dewey, RJ O’Neill Chromosome Research 18, 179-189, 2010 | 2 | 2010 |
| TSC1 loss-of-function increases risk for tauopathy by inducing tau acetylation and preventing autophagy-mediated tau clearance C Alquezar, KM Schoch, EG Geier, EM Ramos, A Scrivo, K Li, ... bioRxiv, 2020.11. 08.371922, 2020 | 1 | 2020 |
| Epigenetic basis for cancer susceptibility in a Peromyscus model EE Mlynarski, CJ Obergfell, GJ Szalai, RJ O'Neill CHROMOSOME RESEARCH 17 (4), 560-560, 2009 | 1 | 2009 |
