| Exome sequencing–based screening for BRCA1/2 expected pathogenic variants among adult biobank participants K Manickam, AH Buchanan, MLB Schwartz, MLG Hallquist, JL Williams, ... JAMA Network Open 1 (5), e182140-e182140, 2018 | 197 | 2018 |
| Genetic testing in neurodevelopmental disorders JM Savatt, SM Myers Frontiers in Pediatrics 9, 526779, 2021 | 138 | 2021 |
| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 84 | 2022 |
| Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer K Yan, J Rousseau, K Machol, LA Cross, KE Agre, CF Gibson, A Goverde, ... Science advances 6 (4), eaax0021, 2020 | 63 | 2020 |
| Incorporating social media into your support tool box: points to consider from genetics-based communities HM Rocha, JM Savatt, ER Riggs, JK Wagner, WA Faucett, CL Martin Journal of genetic counseling 27, 470-480, 2018 | 35 | 2018 |
| ClinGen's GenomeConnect registry enables patient‐centered data sharing JM Savatt, DR Azzariti, WA Faucett, S Harrison, J Hart, B Kattman, ... Human mutation 39 (11), 1668-1676, 2018 | 33 | 2018 |
| TMX2 is a crucial regulator of cellular redox state, and its dysfunction causes severe brain developmental abnormalities LV Vandervore, R Schot, C Milanese, DJ Smits, E Kasteleijn, AE Fry, ... The American Journal of Human Genetics 105 (6), 1126-1147, 2019 | 31 | 2019 |
| DLG4-related synaptopathy: a new rare brain disorder A Rodríguez-Palmero, MM Boerrigter, D Gómez-Andrés, KA Aldinger, ... Genetics in Medicine 23 (5), 888-899, 2021 | 28 | 2021 |
| Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic MLG Hallquist, EP Tricou, MN Hallquist, JM Savatt, H Rocha, AE Evans, ... Genetics in Medicine 22 (8), 1348-1354, 2020 | 28 | 2020 |
| Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 26 | 2020 |
| Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties KE Wain, DR Azzariti, JL Goldstein, AK Johnson, P Krautscheid, B Lepore, ... Genetics in Medicine 22 (4), 785-792, 2020 | 21 | 2020 |
| Application of a framework to guide genetic testing communication across clinical indications MLG Hallquist, EP Tricou, KE Ormond, JM Savatt, CR Coughlin, ... Genome Medicine 13 (1), 71, 2021 | 17 | 2021 |
| The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants KE Wain, E Palen, JM Savatt, D Shuman, B Finucane, A Seeley, ... Human mutation 39 (11), 1660-1667, 2018 | 14 | 2018 |
| Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels ER Riggs, TI Bingaman, CA Barry, A Behlmann, K Bluske, B Bostwick, ... Genetics in Medicine 24 (9), 1899-1908, 2022 | 13 | 2022 |
| De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway M Asif, E Kaygusuz, M Shinawi, A Nickelsen, TC Hsieh, P Wagle, ... Human Genetics and Genomics Advances 3 (3), 2022 | 13 | 2022 |
| Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome M Angelozzi, A Karvande, AN Molin, AL Ritter, JMM Leonard, JM Savatt, ... Journal of medical genetics 59 (11), 1058-1068, 2022 | 12 | 2022 |
| A RE-AIM framework analysis of DNA-based population screening: using implementation science to translate research into practice in a healthcare system LK Jones, NT Strande, EM Calvo, J Chen, G Rodriguez, CZ McCormick, ... Frontiers in Genetics 13, 883073, 2022 | 12 | 2022 |
| Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population JM Savatt, H Shimelis, A Moreno-De-Luca, NT Strande, MT Oetjens, ... Genetics in Medicine 24 (9), 1857-1866, 2022 | 10 | 2022 |
| Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax B Finucane, JM Savatt, H Shimelis, S Girirajan, SM Myers American journal of medical genetics. Part A 185 (6), 1922, 2021 | 10 | 2021 |
| Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult-and … JM Savatt, JK Wagner, S Joffe, AK Rahm, MS Williams, AR Bradbury, ... BMC pediatrics 20, 1-13, 2020 | 10 | 2020 |
