| Towards an evidence‐based process for the clinical interpretation of copy number variation ER Riggs, DM Church, K Hanson, VL Horner, EB Kaminsky, RM Kuhn, ... Clinical genetics 81 (5), 403-412, 2012 | 122 | 2012 |
| Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype N Hoppman‐Chaney, K Wain, PR Seger, DW Superneau, JC Hodge Clinical genetics 83 (4), 345-351, 2013 | 113 | 2013 |
| Chromosomal microarray impacts clinical management ER Riggs, KE Wain, D Riethmaier, B Smith‐Packard, WA Faucett, ... Clinical Genetics 85 (2), 147-153, 2014 | 95 | 2014 |
| Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review KE Wain, MS Ellingson, J McDonald, A Gammon, M Roberts, P Pichurin, ... Genetics in Medicine 16 (8), 588-593, 2014 | 94 | 2014 |
| 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 | 82 | 2022 |
| Molecular diagnostic yield of exome sequencing in patients with cerebral palsy A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ... Jama 325 (5), 467-475, 2021 | 82 | 2021 |
| Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the … D Waggoner, KE Wain, AM Dubuc, L Conlin, SE Hickey, AN Lamb, ... Genetics in Medicine 20 (10), 1105-1113, 2018 | 56 | 2018 |
| Identification of neuropsychiatric copy number variants in a health care system population CL Martin, KE Wain, MT Oetjens, K Tolwinski, E Palen, A Hare-Harris, ... JAMA psychiatry 77 (12), 1276-1285, 2020 | 54 | 2020 |
| Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background KE Ormond, MLG Hallquist, AH Buchanan, D Dondanville, MK Cho, ... Genetics in Medicine 21 (3), 727-735, 2019 | 46 | 2019 |
| T owards a U niversal C linical G enomics D atabase: The 2012 I nternational S tandards for C ytogenomic A rrays C onsortium M eeting ER Riggs, KE Wain, D Riethmaier, M Savage, B Smith‐Packard, ... Human mutation 34 (6), 915-919, 2013 | 41 | 2013 |
| 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 |
| Leveraging population‐based exome screening to impact clinical care: the evolution of variant assessment in the Geisinger MyCode research project MA Kelly, JB Leader, KE Wain, D Bodian, MT Oetjens, DH Ledbetter, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2021 | 32 | 2021 |
| GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder C Shieh, N Jones, B Vanle, M Au, AY Huang, APG Silva, H Lee, ... Genetics in Medicine 22 (5), 878-888, 2020 | 32* | 2020 |
| Looking back and moving forward: an historical perspective from laboratory genetic counselors LH Zetzsche, KE Kotzer, KE Wain Journal of Genetic Counseling 23, 363-370, 2014 | 32 | 2014 |
| Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes K Wain, K Swanson, W Watson, E Jeavons, A Weaver, N Lindor American Journal of Medical Genetics Part A 158 (8), 2009-2014, 2012 | 27 | 2012 |
| The utilization of counseling skills by the laboratory genetic counselor MKL Goodenberger, BC Thomas, KE Wain Journal of Genetic Counseling 24 (1), 6-17, 2015 | 23 | 2015 |
| 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 |
| The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing KE Wain, E Riggs, K Hanson, M Savage, D Riethmaier, A Muirhead, ... Journal of Genetic Counseling 21, 631-637, 2012 | 19 | 2012 |
| Living at risk: the sibling’s perspective of early-onset Alzheimer’s disease KE Wain, WR Uhlmann, J Heidebrink, JS Roberts Journal of Genetic Counseling 18 (3), 239-251, 2009 | 18 | 2009 |
| De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability A Schalk, MA Cousin, NR Dsouza, TD Challman, KE Wain, Z Powis, ... Journal of medical genetics 59 (10), 965-975, 2022 | 17 | 2022 |
