| Harmonizing clinical sequencing and interpretation for the eMERGE III network H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ... The American Journal of Human Genetics 105 (3), 588-605, 2019 | 98 | 2019 |
| Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores SE Boyden, LJ Mahoney, G Kawahara, JA Myers, S Mitsuhashi, ... Neurogenetics 13, 115-124, 2012 | 84 | 2012 |
| De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females EE Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, ... Molecular psychiatry 23 (2), 222-230, 2018 | 69 | 2018 |
| Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts UL Mirshahi, K Colclough, CF Wright, AR Wood, RN Beaumont, J Tyrrell, ... The American Journal of Human Genetics 109 (11), 2018-2028, 2022 | 51 | 2022 |
| Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot MK King, E Leipold, JM Goehringer, I Kurth, TD Challman Neurogenetics 18, 179-181, 2017 | 29 | 2017 |
| Generation and implementation of a patient-centered and patient-facing genomic test report in the EHR JM Goehringer, MA Bonhag, LK Jones, T Schmidlen, M Schwartz, ... eGEMs 6 (1), 2018 | 15 | 2018 |
| Model for integration of monogenic diabetes diagnosis into routine care: the personalized diabetes medicine program H Zhang, JW Kleinberger, KA Maloney, Y Guan, TJ Mathias, K Bisordi, ... Diabetes care 45 (8), 1799-1806, 2022 | 10 | 2022 |
| Evolving cardiovascular genetic counseling needs in the era of precision medicine A Morales, J Goehringer, D Sanoudou Frontiers in Cardiovascular Medicine 10, 1161029, 2023 | 7 | 2023 |
| Understanding the patient experience of receiving clinically actionable genetic results from the MyCode community health initiative, a population-based genomic screening initiative A Baker, K Tolwinski, J Atondo, FD Davis, J Goehringer, LK Jones, ... Journal of Personalized Medicine 12 (9), 1511, 2022 | 6 | 2022 |
| The penetrance of age-related monogenic disease depends on ascertainment context UL Mirshahi, K Colclough, CF Wright, AR Wood, RN Beaumont, J Tyrrell, ... MedRxiv, 2021.06. 28.21259641, 2021 | 6 | 2021 |
| Stakeholders assessing genetics with employers (SAGE) PA Deverka, J Goehringer, W McDonald, Z Salvati, J Wagner, ... NHGR Institute, 2020 | 5 | 2020 |
| Penetrance of MODY is substantially lower in clinically unselected cohort: important implications for opportunistic genomic testing K Patel, U Mirshahi, K Colclough, C Wright, A Wood, R Beaumont, T Laver, ... DIABETOLOGIA 65 (SUPPL 1), S41-S41, 2022 | 1 | 2022 |
| Pediatric Screening for Type 1 Diabetes: Report on Pre-implementation Outcomes CG Klaczko, N Walters, A Brangan, K Romagnoli, J Goehringer, ... 17 th Annual Conference on the Science of Dissemination and Implementation, 2024 | | 2024 |
| Development and Pilot Testing of Evidence-Based Interventions to Improve Adherence after Receiving a Genetic Result AM Baker, J Goehringer, M Woltz, KM Romagnoli, G Campbell-Salome, ... Public Health Genomics 27 (1), 197-209, 2024 | | 2024 |
| Assessing the Utility of a Patient-Facing Diagnostic Tool Among Individuals With Hypermobile Ehlers-Danlos Syndrome: Focus Group Study J Goehringer, A Kosmin, N Laible, K Romagnoli JMIR Formative Research 8 (1), e49720, 2024 | | 2024 |
| The penetrance of age-dependent monogenic disease variants depends on ascertainment context UL Mirshahi, K Colclough, C Wright, T Laver, R Stahl, A Golden, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 65-66, 2022 | | 2022 |
| Non-indication based genetic testing in the workplace: a qualitative cross-case comparison of genetic testing vendors Z Salvati, J Goehringer, P Deverka, M Williams Molecular Genetics and Metabolism 132, S342-S343, 2021 | | 2021 |
| PARTICIPANT PSYCHOSOCIAL RESPONSE AFTER RECEIVING CLINICALLY ACTIONABLE GENOMIC INFORMATION FROM A BIOBANK AK Rahm, AM Baker, A Buchanan, J Goehringer, K Tolwinski, L Jones ANNALS OF BEHAVIORAL MEDICINE 54, S316-S316, 2020 | | 2020 |
| 238-LB: Prevalence of GCK-MODY in 92,412 Exomes from an Unselected Clinical Population UL Mirshahi, JM Goehringer, Y Hu, AH Wardeh, J Williams, CB Manney, ... Diabetes 68 (Supplement_1), 2019 | | 2019 |
