| Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome PR Blackburn, Z Xu, KE Tumelty, RW Zhao, WJ Monis, KG Harris, ... The American Journal of Human Genetics 102 (4), 696-705, 2018 | 160 | 2018 |
| Zebrafish: a model for the study of addiction genetics EW Klee, H Schneider, KJ Clark, MA Cousin, JO Ebbert, WM Hooten, ... Human genetics 131, 977-1008, 2012 | 148 | 2012 |
| Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans HC Lu, Q Tan, MWC Rousseaux, W Wang, JY Kim, R Richman, YW Wan, ... Nature genetics 49 (4), 527-536, 2017 | 144 | 2017 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 129 | 2018 |
| Outcome of whole exome sequencing for diagnostic odyssey cases of an individualized medicine clinic: the Mayo Clinic experience KN Lazaridis, KA Schahl, MA Cousin, D Babovic-Vuksanovic, ... Mayo Clinic Proceedings 91 (3), 297-307, 2016 | 110 | 2016 |
| Arterial tortuosity syndrome: 40 new families and literature review A Beyens, J Albuisson, A Boel, M Al-Essa, W Al-Manea, D Bonnet, ... Genetics in Medicine 20 (10), 1236-1245, 2018 | 102 | 2018 |
| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome MA Cousin, BA Creighton, KA Breau, RC Spillmann, E Torti, S Dontu, ... Nature Genetics 53 (7), 1006-1021, 2021 | 64 | 2021 |
| Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment MA Cousin, JO Ebbert, AR Wiinamaki, MD Urban, DP Argue, SC Ekker, ... PLoS One 9 (3), e90467, 2014 | 61 | 2014 |
| LeafCutterMD: an algorithm for outlier splicing detection in rare diseases G Jenkinson, YI Li, S Basu, MA Cousin, GR Oliver, EW Klee Bioinformatics 36 (17), 4609-4615, 2020 | 58 | 2020 |
| RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities MA Cousin, E Conboy, JS Wang, D Lenz, TL Schwab, M Williams, ... The American Journal of Human Genetics 105 (1), 108-121, 2019 | 54 | 2019 |
| Comparison of fluorescence in situ hybridization, p57 immunostaining, flow cytometry, and digital image analysis for diagnosing molar and nonmolar products of conception BR Kipp, RP Ketterling, TN Oberg, MA Cousin, AM Plagge, AE Wiktor, ... American journal of clinical pathology 133 (2), 196-204, 2010 | 53 | 2010 |
| Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ... Nature communications 12 (1), 2558, 2021 | 41 | 2021 |
| Impact of integrated translational research on clinical exome sequencing EW Klee, MA Cousin, F Pinto e Vairo, JA Morales-Rosado, EL Macke, ... Genetics in Medicine 23 (3), 498-507, 2021 | 39 | 2021 |
| Utility of DNA, RNA, protein, and functional approaches to solve cryptic immunodeficiencies MA Cousin, MJ Smith, AN Sigafoos, JJ Jin, MI Murphree, NJ Boczek, ... Journal of Clinical Immunology 38, 307-319, 2018 | 34 | 2018 |
| De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature S Nambot, L Faivre, G Mirzaa, J Thevenon, AL Bruel, AL Mosca-Boidron, ... European Journal of Human Genetics 28 (6), 770-782, 2020 | 33 | 2020 |
| Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients MA Cousin, ET Matey, PR Blackburn, NJ Boczek, TM McAllister, ... Molecular genetics & genomic medicine 5 (3), 269-279, 2017 | 31 | 2017 |
| Reducing the noise in behavioral assays: sex and age in adult zebrafish locomotion C Philpott, CJ Donack, MA Cousin, C Pierret Zebrafish 9 (4), 191-194, 2012 | 31 | 2012 |
| Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome À García-Cazorla, E Verdura, N Juliá-Palacios, EN Anderson, ... Acta neuropathologica 140, 971-975, 2020 | 30 | 2020 |
| A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease GR Oliver, X Tang, LE Schultz-Rogers, N Vidal-Folch, WG Jenkinson, ... PLoS One 14 (10), e0223337, 2019 | 30 | 2019 |
| The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients FP Vairo, NJ Boczek, MA Cousin, C Kaiwar, PR Blackburn, E Conboy, ... Molecular Genetics and Metabolism Reports 13, 46-51, 2017 | 27 | 2017 |
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