| Formation and regulation of mitochondrial membranes LC Schenkel, M Bakovic International journal of cell biology 2014, 2014 | 179 | 2014 |
| Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes E Aref-Eshghi, DI Rodenhiser, LC Schenkel, H Lin, C Skinner, ... The American Journal of Human Genetics 102 (1), 156-174, 2018 | 149 | 2018 |
| Clinical validation of copy number variant detection from targeted next-generation sequencing panels J Kerkhof, LC Schenkel, J Reilly, S McRobbie, E Aref-Eshghi, A Stuart, ... The Journal of Molecular Diagnostics 19 (6), 905-920, 2017 | 126 | 2017 |
| Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders B Sadikovic, MA Levy, J Kerkhof, E Aref-Eshghi, L Schenkel, A Stuart, ... Genetics in Medicine 23 (6), 1065-1074, 2021 | 122 | 2021 |
| BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes E Aref-Eshghi, EG Bend, RL Hood, LC Schenkel, DA Carere, ... Nature communications 9 (1), 4885, 2018 | 108 | 2018 |
| The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance E Aref-Eshghi, LC Schenkel, H Lin, C Skinner, P Ainsworth, G Paré, ... Epigenetics 12 (11), 923-933, 2017 | 89 | 2017 |
| Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome LC Schenkel, KD Kernohan, A McBride, D Reina, A Hodge, PJ Ainsworth, ... Epigenetics & chromatin 10, 1-11, 2017 | 83 | 2017 |
| The BDNF Val66Met polymorphism is an independent risk factor for high lethality in suicide attempts of depressed patients LC Schenkel, J Segal, JA Becker, GG Manfro, MM Bianchin, ... Progress in Neuro-Psychopharmacology and Biological Psychiatry 34 (6), 940-944, 2010 | 69 | 2010 |
| Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy KD Kernohan, L Cigana Schenkel, L Huang, A Smith, G Pare, P Ainsworth, ... Clinical epigenetics 8, 1-6, 2016 | 68 | 2016 |
| The defining DNA methylation signature of Floating-Harbor Syndrome RL Hood, LC Schenkel, SM Nikkel, PJ Ainsworth, G Pare, KM Boycott, ... Scientific reports 6 (1), 38803, 2016 | 65 | 2016 |
| Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C LC Schenkel, E Aref-Eshghi, C Skinner, P Ainsworth, H Lin, G Paré, ... Clinical epigenetics 10, 1-11, 2018 | 64 | 2018 |
| Clinical next-generation sequencing pipeline outperforms a combined approach using sanger sequencing and multiplex ligation-dependent probe amplification in targeted gene panel … LC Schenkel, J Kerkhof, A Stuart, J Reilly, B Eng, C Woodside, A Levstik, ... The Journal of Molecular Diagnostics 18 (5), 657-667, 2016 | 48 | 2016 |
| Clinical validation of a genome-wide DNA methylation assay for molecular diagnosis of imprinting disorders E Aref-Eshghi, LC Schenkel, H Lin, C Skinner, P Ainsworth, G Paré, V Siu, ... The Journal of Molecular Diagnostics 19 (6), 848-856, 2017 | 46 | 2017 |
| Genomic DNA methylation-derived algorithm enables accurate detection of malignant prostate tissues E Aref-Eshghi, LC Schenkel, P Ainsworth, H Lin, DI Rodenhiser, JC Cutz, ... Frontiers in oncology 8, 100, 2018 | 43 | 2018 |
| Clinical validation of fragile X syndrome screening by DNA methylation array LC Schenkel, C Schwartz, C Skinner, DI Rodenhiser, PJ Ainsworth, ... The Journal of Molecular Diagnostics 18 (6), 834-841, 2016 | 40 | 2016 |
| Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy LC Schenkel, JA Bragatti, CM Torres, KC Martin, G Gus-Manfro, ... Epilepsy research 95 (1-2), 152-157, 2011 | 39 | 2011 |
| Choline supplementation restores substrate balance and alleviates complications of Pcyt2 deficiency LC Schenkel, S Sivanesan, J Zhang, B Wuyts, A Taylor, A Verbrugghe, ... The Journal of nutritional biochemistry 26 (11), 1221-1234, 2015 | 38 | 2015 |
| Serotonin gene polymorphisms and psychiatry comorbidities in temporal lobe epilepsy LC Schenkel, JA Bragatti, JA Becker, CM Torres, KC Martin, AC de Souza, ... Epilepsy research 99 (3), 260-266, 2012 | 37 | 2012 |
| DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome LC Schenkel, E Aref-Eshghi, K Rooney, J Kerkhof, MA Levy, H McConkey, ... Clinical epigenetics 13, 1-17, 2021 | 36 | 2021 |
| Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts LC Schenkel, RK Singh, V Michel, SH Zeisel, KA da Costa, AR Johnson, ... The FASEB Journal 29 (5), 1663, 2015 | 31 | 2015 |
