| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 448 | 2017 |
| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 186 | 2020 |
| Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield CS Gubbels, GE VanNoy, JA Madden, D Copenheaver, S Yang, ... Genetics in Medicine 22 (4), 736-744, 2020 | 106 | 2020 |
| The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? YS Fraiman, MH Wojcik Pediatric Research 89 (2), 295-300, 2021 | 87 | 2021 |
| Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities MH Wojcik, TS Schwartz, I Yamin, HL Edward, CA Genetti, MC Towne, ... Genetics in Medicine 20 (11), 1396-1404, 2018 | 80 | 2018 |
| Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project MH Wojcik, T Zhang, O Ceyhan-Birsoy, CA Genetti, MS Lebo, TW Yu, ... Genetics in Medicine 23 (7), 1372-1375, 2021 | 74 | 2021 |
| Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ... The American Journal of Human Genetics 105 (3), 493-508, 2019 | 73 | 2019 |
| Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia C Guissart, X Latypova, P Rollier, TN Khan, H Stamberger, K McWalter, ... The American Journal of Human Genetics 102 (5), 744-759, 2018 | 72 | 2018 |
| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ... Genetics in Medicine 21 (12), 2723-2733, 2019 | 69 | 2019 |
| Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes K Schmitz-Abe, Q Li, SM Rosen, N Nori, JA Madden, CA Genetti, ... European Journal of Human Genetics 27 (9), 1398-1405, 2019 | 69 | 2019 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 68 | 2020 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 67 | 2023 |
| Infant mortality: the contribution of genetic disorders MH Wojcik, TS Schwartz, KE Thiele, H Paterson, R Stadelmaier, ... Journal of Perinatology 39 (12), 1611-1619, 2019 | 65 | 2019 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 60 | 2022 |
| Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures M Zweier, A Begemann, K McWalter, MT Cho, L Abela, S Banka, ... European Journal of Human Genetics 27 (5), 747-759, 2019 | 60 | 2019 |
| A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability VM Pravata, M Gundogdu, SG Bartual, AT Ferenbach, M Stavridis, ... FEBS letters 594 (4), 717-727, 2020 | 57 | 2020 |
| Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa MH Wojcik, E Meenaghan, EA Lawson, M Misra, A Klibanski, KK Miller Bone 46 (3), 796-800, 2010 | 52 | 2010 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 51 | 2019 |
| POLRMT mutations impair mitochondrial transcription causing neurological disease M Oláhová, B Peter, Z Szilagyi, H Diaz-Maldonado, M Singh, ... Nature communications 12 (1), 1135, 2021 | 45 | 2021 |
| Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype P Zanoni, K Steindl, D Sengupta, P Joset, A Bahr, H Sticht, ... Genetics in Medicine 23 (8), 1474-1483, 2021 | 38 | 2021 |
