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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.
Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.
Mol Psychiatry. 2018.
PMID: 27550844
Free PMC article.
Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.
King MK, Leipold E, Goehringer JM, Kurth I, Challman TD.
King MK, et al. Among authors: goehringer jm.
Neurogenetics. 2017 Jul;18(3):179-181. doi: 10.1007/s10048-017-0513-9. Epub 2017 Mar 13.
Neurogenetics. 2017.
PMID: 28289907
No abstract available.
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Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium.
Eric V, et al.
Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13.
Genet Med. 2021.
PMID: 34257418
Free PMC article.
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Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR.
Goehringer JM, Bonhag MA, Jones LK, Schmidlen T, Schwartz M, Rahm AK, Williams JL, Williams MS.
Goehringer JM, et al.
EGEMS (Wash DC). 2018 Jun 26;6(1):14. doi: 10.5334/egems.256.
EGEMS (Wash DC). 2018.
PMID: 30094286
Free PMC article.
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Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.
Baker A, Tolwinski K, Atondo J, Davis FD, Goehringer J, Jones LK, Pisieczko CJ, Sturm AC, Williams JL, Williams MS, Rahm AK, Buchanan AH.
Baker A, et al.
J Pers Med. 2022 Sep 15;12(9):1511. doi: 10.3390/jpm12091511.
J Pers Med. 2022.
PMID: 36143296
Free PMC article.
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Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.
Zhang H, Kleinberger JW, Maloney KA, Guan Y, Mathias TJ, Bisordi K, Streeten EA, Blessing K, Snyder MN, Bromberger LA, Goehringer J, Kimball A, Damcott CM, Taylor CO, Nicholson M, Nwaba D, Palmer K, Sewell D, Ambulos N, Jeng LJB, Shuldiner AR, Levin P, Carey DJ, Pollin TI.
Zhang H, et al.
Diabetes Care. 2022 Aug 1;45(8):1799-1806. doi: 10.2337/dc21-1975.
Diabetes Care. 2022.
PMID: 35763601
Free PMC article.
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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA.
Mirshahi UL, et al. Among authors: goehringer jm.
Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17.
Am J Hum Genet. 2022.
PMID: 36257325
Free PMC article.
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Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM.
Hu J, et al.
BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w.
BMC Res Notes. 2024.
PMID: 38433186
Free PMC article.
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