| 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 | 82 | 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 | 80 | 2019 |
| 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 | 74 | 2022 |
| 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 | 62 | 2023 |
| 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 | 62 | 2012 |
| 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 | 54 | 2020 |
| 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 | 52 | 2020 |
| 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 | 52 | 2015 |
| 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 | 50 | 2019 |
| 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 | 49 | 2017 |
| 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 | 44 | 2015 |
| 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 | 38 | 2020 |
| 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 | 38 | 2019 |
| 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 | 34 | 2015 |
| Exome and genome sequencing in reproductive medicine EA Normand, JT Alaimo, IB Van den Veyver Fertility and Sterility 109 (2), 213-220, 2018 | 31 | 2018 |
| 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 | 30 | 2017 |
| 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 | 28 | 2018 |
| Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics SN Hartin, JC Means, JT Alaimo, ST Younger Molecular Medicine 26, 1-7, 2020 | 26 | 2020 |
| 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 | 20 | 2017 |
| Factors affecting migration to GRCh38 in laboratories performing clinical next-generation sequencing LA Lansdon, M Cadieux-Dion, B Yoo, N Miller, ASA Cohen, L Zellmer, ... The Journal of Molecular Diagnostics 23 (5), 651-657, 2021 | 19 | 2021 |
