| Ethanol Metabolism and Osmolarity Modify Behavioral Responses to Ethanol in C. elegans JT Alaimo, SJ Davis, SS Song, CR Burnette, M Grotewiel, KL Shelton, ... Alcoholism: Clinical and Experimental Research 36 (11), 1840-1850, 2012 | 75 | 2012 |
| Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement M Zollino, C Zweier, ID Van Balkom, DA Sweetser, J Alaimo, EK Bijlsma, ... Clinical Genetics 95 (4), 462-478, 2019 | 72 | 2019 |
| Chloride intracellular channels modulate acute ethanol behaviors in Drosophila, Caenorhabditis elegans and mice P Bhandari, JS Hill, SP Farris, B Costin, I Martin, CL Chan, JT Alaimo, ... Genes, Brain and Behavior 11 (4), 387-397, 2012 | 61 | 2012 |
| Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes ASA Cohen, EG Farrow, AT Abdelmoity, JT Alaimo, SM Amudhavalli, ... Genetics in Medicine 24 (6), 1336-1348, 2022 | 58 | 2022 |
| Phenotypic and molecular convergence of 2q23. 1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder SV Mullegama, JT Alaimo, L Chen, SH Elsea International journal of molecular sciences 16 (4), 7627-7643, 2015 | 49 | 2015 |
| Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency CL Alston, MT Veling, J Heidler, LS Taylor, JT Alaimo, AY Sung, L He, ... The American Journal of Human Genetics 106 (1), 92-101, 2020 | 48 | 2020 |
| Genomewide association study of alcohol dependence identifies risk loci altering ethanol‐response behaviors in model organisms AE Adkins, LM Hack, TB Bigdeli, VS Williamson, GO McMichael, ... Alcoholism: Clinical and Experimental Research 41 (5), 911-928, 2017 | 48 | 2017 |
| Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis JT Alaimo, KE Glinton, N Liu, J Xiao, Y Yang, VR Sutton, SH Elsea Genetics in Medicine 22 (9), 1560-1566, 2020 | 45 | 2020 |
| De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to … F Vetrini, S McKee, JA Rosenfeld, M Suri, AM Lewis, KM Nugent, ... Genome medicine 11 (1), 1-17, 2019 | 38 | 2019 |
| Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome JT Alaimo, LV Barton, SV Mullegama, RD Wills, RH Foster, SH Elsea Research in Developmental Disabilities 47, 27-38, 2015 | 38 | 2015 |
| Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor TN Le, SR Williams, JT Alaimo, SH Elsea American Journal of Medical Genetics Part A 179 (5), 782-791, 2019 | 34 | 2019 |
| A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ... European Journal of Human Genetics 28 (10), 1422-1431, 2020 | 33 | 2020 |
| Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity-own experience L Chen, SV Mullegama, JT Alaimo, SH Elsea Dev Period Med 19 (2), 149-56, 2015 | 32 | 2015 |
| Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND … L Chen, PJ Jensik, JT Alaimo, M Walkiewicz, S Berger, E Roeder, ... Human mutation 38 (12), 1774-1785, 2017 | 29 | 2017 |
| The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change HL Rehm, JT Alaimo, S Aradhya, P Bayrak-Toydemir, H Best, R Brandon, ... Genetics in Medicine, 100947, 2023 | 28 | 2023 |
| Exome and genome sequencing in reproductive medicine EA Normand, JT Alaimo, IB Van den Veyver Fertility and Sterility 109 (2), 213-220, 2018 | 28 | 2018 |
| Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion JT Alaimo, A Besse, CL Alston, K Pang, V Appadurai, M Samanta, ... Human mutation 39 (4), 537-549, 2018 | 26 | 2018 |
| Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies T Perkins, JM Rosenberg, C Le Coz, JT Alaimo, M Trofa, SV Mullegama, ... The Journal of Allergy and Clinical Immunology: In Practice 5 (5), 1344-1350. e3, 2017 | 18 | 2017 |
| Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1 JT Alaimo, NH Hahn, SV Mullegama, SH Elsea PLoS One 9 (8), e105077, 2014 | 18 | 2014 |
| RAI1 overexpression promotes altered circadian gene expression and dyssomnia in Potocki–Lupski syndrome SV Mullegama, JT Alaimo, MD Fountain, B Burns, AH Balog, L Chen, ... Journal of pediatric genetics 6 (03), 155-164, 2017 | 17 | 2017 |
