| ClinGen—the clinical genome resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine 372 (23), 2235-2242, 2015 | 1180 | 2015 |
| Epidemiology of fragile X syndrome: A systematic review and meta‐analysis J Hunter, O Rivero‐Arias, A Angelov, E Kim, I Fotheringham, J Leal American journal of medical genetics Part A 164 (7), 1648-1658, 2014 | 436 | 2014 |
| Evaluating gene expression in C57BL/6J and DBA/2J mouse striatum using RNA-Seq and microarrays D Bottomly, NAR Walter, JE Hunter, P Darakjian, S Kawane, KJ Buck, ... PloS one 6 (3), e17820, 2011 | 271 | 2011 |
| An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability AJ Barela, SP Waddy, JG Lickfett, J Hunter, A Anido, SL Helmers, ... Journal of Neuroscience 26 (10), 2714-2723, 2006 | 129 | 2006 |
| A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation B Tang, K Dutt, L Papale, R Rusconi, A Shankar, J Hunter, S Tufik, ... Neurobiology of disease 35 (1), 91-102, 2009 | 113 | 2009 |
| A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation JE Hunter, SA Irving, LG Biesecker, A Buchanan, B Jensen, K Lee, ... Genetics in Medicine 18 (12), 1258-1268, 2016 | 103 | 2016 |
| Co‐occurring diagnoses among FMR1 premutation allele carriers JE Hunter, JK Rohr, SL Sherman Clinical genetics 77 (4), 374-381, 2010 | 96 | 2010 |
| No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50 JE Hunter, EG Allen, A Abramowitz, M Rusin, M Leslie, G Novak, ... The American Journal of Human Genetics 83 (6), 692-702, 2008 | 86 | 2008 |
| Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers JE Hunter, EG Allen, A Abramowitz, M Rusin, M Leslie, G Novak, ... Behavior genetics 38, 493-502, 2008 | 77 | 2008 |
| FMR1 disorders JE Hunter, E Berry-Kravis, H Hipp, PK Todd | 66 | 2019 |
| Fragile X‐associated primary ovarian insufficiency: evidence for additional genetic contributions to severity JE Hunter, MP Epstein, SW Tinker, KH Charen, SL Sherman Genetic Epidemiology: The Official Publication of the International Genetic …, 2008 | 56 | 2008 |
| The FMR1 Premutation and Attention-Deficit Hyperactivity Disorder (ADHD): Evidence for a Complex Inheritance JE Hunter, MP Epstein, SW Tinker, A Abramowitz, SL Sherman Behavior genetics 42, 415-422, 2012 | 53 | 2012 |
| The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project JE Hunter, EG Allen, M Shin, LJH Bean, A Correa, C Druschel, CA Hobbs, ... Genetics in medicine 15 (9), 698-705, 2013 | 50 | 2013 |
| Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature JE Hunter, A Abramowitz, M Rusin, SL Sherman Genetics in medicine 11 (2), 79-89, 2009 | 50 | 2009 |
| Subthreshold changes of voltage-dependent activation of the KV7. 2 channel in neonatal epilepsy J Hunter, S Maljevic, A Shankar, A Siegel, B Weissman, P Holt, L Olson, ... Neurobiology of disease 24 (1), 194-201, 2006 | 50 | 2006 |
| Universal tumor screening for Lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers JE Hunter, JM Zepp, MJ Gilmore, JV Davis, EJ Esterberg, KR Muessig, ... Cancer 121 (18), 3281-3289, 2015 | 49 | 2015 |
| Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms JE Hunter, M Leslie, G Novak, D Hamilton, L Shubeck, K Charen, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012 | 45 | 2012 |
| Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in … AK Rahm, D Cragun, JE Hunter, MM Epstein, J Lowery, CY Lu, ... BMC health services research 18, 1-11, 2018 | 43 | 2018 |
| Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts. JE Hunter, S Sherman, J Grigsby, C Kogan, K Cornish Neuropsychology 26 (2), 156, 2012 | 39 | 2012 |
| Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group EM Webber, JE Hunter, LG Biesecker, AH Buchanan, EV Clarke, E Currey, ... Human mutation 39 (11), 1677-1685, 2018 | 36 | 2018 |
