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Items: 1 to 50 of 152

1.

FinnTwin12 Cohort: An Updated Review.

Rose RJ, Salvatore JE, Aaltonen S, Barr PB, Bogl LH, Byers HA, Heikkilä K, Korhonen T, Latvala A, Palviainen T, Ranjit A, Whipp AM, Pulkkinen L, Dick DM, Kaprio J.

Twin Res Hum Genet. 2019 Oct;22(5):302-311. doi: 10.1017/thg.2019.83. Epub 2019 Oct 23.

PMID:
31640839
2.

A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density.

Brentnall AR, van Veen EM, Harkness EF, Rafiq S, Byers H, Astley SM, Sampson S, Howell A, Newman WG, Cuzick J, Evans DGR.

Int J Cancer. 2020 Apr 15;146(8):2122-2129. doi: 10.1002/ijc.32541. Epub 2019 Jul 13.

PMID:
31251818
3.

Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.

Evans DGR, Harkness EF, Brentnall AR, van Veen EM, Astley SM, Byers H, Sampson S, Southworth J, Stavrinos P, Howell SJ, Maxwell AJ, Howell A, Newman WG, Cuzick J.

Breast Cancer Res Treat. 2019 Jul;176(1):141-148. doi: 10.1007/s10549-019-05210-2. Epub 2019 Apr 2.

4.

Effects of Integrated Telehealth-Delivered Cognitive-Behavioral Therapy for Depression and Insomnia in Rural Older Adults.

Scogin F, Lichstein K, DiNapoli EA, Woosley J, Thomas SJ, LaRocca MA, Byers HD, Mieskowski L, Parker CP, Yang X, Parton J, McFadden A, Geyer JD.

J Psychother Integr. 2018 Sep;28(3):292-309. doi: 10.1037/int0000121.

5.

Factor VIII and vWF deficiency in STT3A-CDG.

Chang IJ, Byers HM, Ng BG, Merritt JL 2nd, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C.

J Inherit Metab Dis. 2019 Mar;42(2):325-332. doi: 10.1002/jimd.12021. Epub 2019 Jan 30. Erratum in: J Inherit Metab Dis. 2019 May;42(3):578.

PMID:
30701557
6.

Discordant sex between fetal screening and postnatal phenotype requires evaluation.

Byers HM, Neufeld-Kaiser W, Chang EY, Tsuchiya K, Oehler ES, Adam MP.

J Perinatol. 2019 Jan;39(1):28-33. doi: 10.1038/s41372-018-0278-5. Epub 2018 Nov 21.

7.

Increasing the Participation of Pregnant Women in Clinical Trials.

Heyrana K, Byers HM, Stratton P.

JAMA. 2018 Nov 27;320(20):2077-2078. doi: 10.1001/jama.2018.17716. No abstract available.

PMID:
30422300
8.

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.

Byers HM, Jensen DM, Glass IA, Bennett JT.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):374-378. doi: 10.1002/ajmg.c.31656. Epub 2018 Sep 27.

PMID:
30260069
9.

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

Evans DGR, van Veen EM, Byers HJ, Wallace AJ, Ellingford JM, Beaman G, Santoyo-Lopez J, Aitman TJ, Eccles DM, Lalloo FI, Smith MJ, Newman WG.

Am J Hum Genet. 2018 Aug 2;103(2):213-220. doi: 10.1016/j.ajhg.2018.07.002.

10.

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.

Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ.

Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001. Epub 2018 May 7.

11.

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.

Byers HM, Chen M, Gelfand AS, Ong B, Jendras M, Glass IA.

Am J Med Genet A. 2018 Jun;176(6):1398-1404. doi: 10.1002/ajmg.a.38726. Epub 2018 Apr 25.

12.

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ.

Mol Genet Metab. 2018 Apr;123(4):428-432. doi: 10.1016/j.ymgme.2018.02.016. Epub 2018 Feb 27.

PMID:
29510902
13.

Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction.

van Veen EM, Brentnall AR, Byers H, Harkness EF, Astley SM, Sampson S, Howell A, Newman WG, Cuzick J, Evans DGR.

JAMA Oncol. 2018 Apr 1;4(4):476-482. doi: 10.1001/jamaoncol.2017.4881.

14.

A sediment extraction and cleanup method for wide-scope multitarget screening by liquid chromatography-high-resolution mass spectrometry.

Massei R, Byers H, Beckers LM, Prothmann J, Brack W, Schulze T, Krauss M.

Anal Bioanal Chem. 2018 Jan;410(1):177-188. doi: 10.1007/s00216-017-0708-9. Epub 2017 Nov 3.

PMID:
29101429
15.

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.

Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, Shnorhavorian M, McCauley EA, Amies Oelschlager AE, Park JM, Sandberg DE, Adam MP, Keegan CE.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):260-267. doi: 10.1002/ajmg.c.31560. Epub 2017 May 25.

16.

Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.

Cuzick J, Brentnall AR, Segal C, Byers H, Reuter C, Detre S, Lopez-Knowles E, Sestak I, Howell A, Powles TJ, Newman WG, Dowsett M.

J Clin Oncol. 2017 Mar;35(7):743-750. doi: 10.1200/JCO.2016.69.8944. Epub 2016 Dec 28.

17.

The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study.

Evans DG, Brentnall A, Byers H, Harkness E, Stavrinos P, Howell A; FH-risk study Group, Newman WG, Cuzick J.

J Med Genet. 2017 Feb;54(2):111-113. doi: 10.1136/jmedgenet-2016-104125. Epub 2016 Oct 28.

PMID:
27794048
18.

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC.

Am J Med Genet A. 2017 Jan;173(1):245-249. doi: 10.1002/ajmg.a.37993. Epub 2016 Oct 12.

19.

Forty-Nine Major and Trace Element Concentrations Measured in Soil Reference Materials NIST SRM 2586, 2587, 2709a, 2710a and 2711a Using ICP-MS and Wavelength Dispersive-XRF.

Byers HL, McHenry LJ, Grundl TJ.

Geostand Geoanal Res. 2016 Sep;40(3):433-445. doi: 10.1111/j.1751-908x.2016.00376.x. Epub 2016 Feb 5.

20.

A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia.

Hughes M, Little J, Herrick AL, Pushpakom S, Byers H, Worthington J, Newman WG.

Scand J Rheumatol. 2017 Jan;46(1):77-78. doi: 10.1080/03009742.2016.1195872. Epub 2016 Aug 30. No abstract available.

PMID:
27574969
21.

Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment.

Tohlob D, Abo Hashem E, Ghareeb N, Ghanem M, Elfarahaty R, Byers H, Pemberton P, Roberts SA, Newman WG, Mohiyiddeen L.

Reprod Biomed Online. 2016 Sep;33(3):391-7. doi: 10.1016/j.rbmo.2016.06.001. Epub 2016 Jun 17.

PMID:
27448492
22.

Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials.

Brentnall AR, Cuzick J, Byers H, Segal C, Reuter C, Detre S, Sestak I, Howell A, Powles TJ, Newman WG, Dowsett M.

Breast Cancer Res Treat. 2016 Aug;158(3):591-6. doi: 10.1007/s10549-016-3885-x. Epub 2016 Jul 11.

23.

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG.

Eur J Hum Genet. 2016 Nov;24(11):1591-1597. doi: 10.1038/ejhg.2016.57. Epub 2016 Jun 8.

24.

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.

Byers HM, Beatty CW, Hahn SH, Gospe SM Jr.

Pediatr Neurol. 2016 Jul;60:79-82. doi: 10.1016/j.pediatrneurol.2016.03.012. Epub 2016 Apr 1.

25.

AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation.

Cerra C, Newman WG, Tohlob D, Byers H, Horne G, Roberts SA, Mohiyiddeen L.

J Assist Reprod Genet. 2016 Aug;33(8):1085-91. doi: 10.1007/s10815-016-0711-7. Epub 2016 May 3.

26.

Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.

Byers HM, Bennett RL, Malouf EA, Weiss MD, Feng J, Scott CR, Jayadev S.

JIMD Rep. 2016;30:109. Epub 2016 Feb 19. No abstract available.

27.

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

Urquhart JE, Beaman G, Byers H, Roberts NA, Chervinsky E, O'Sullivan J, Pilz D, Fry A, Williams SG, Bhaskar SS, Khayat M, Simanovsky N, Shachar IB, Shalev SA, Newman WG.

Clin Genet. 2016 Jun;89(6):724-7. doi: 10.1111/cge.12734. Epub 2016 Feb 3.

PMID:
26757254
28.

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.

Smith MJ, Urquhart JE, Harkness EF, Miles EK, Bowers NL, Byers HJ, Bulman M, Gokhale C, Wallace AJ, Newman WG, Evans DG.

Hum Mutat. 2016 Mar;37(3):250-6. doi: 10.1002/humu.22938. Epub 2016 Jan 11.

PMID:
26615784
29.

Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.

Byers HM, Bennett RL, Malouf EA, Weiss MD, Feng J, Scott CR, Jayadev S.

JIMD Rep. 2016;30:103-108. Epub 2015 Nov 21. Erratum in: JIMD Rep. 2016;30:109.

30.

Cognitive processes in comorbid poor sleep and chronic pain.

Byers HD, Lichstein KL, Thorn BE.

J Behav Med. 2016 Apr;39(2):233-40. doi: 10.1007/s10865-015-9687-5. Epub 2015 Oct 12.

PMID:
26458949
31.

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

McDermott JH, Byers H, Clayton-Smith J.

Clin Dysmorphol. 2016 Jan;25(1):16-8. doi: 10.1097/MCD.0000000000000099.

PMID:
26351730
32.

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

Yasar B, Byers HJ, Smith MJ, Lear J, Oudit D, Bholah Z, Roberts SA, Newman WG, Evans DG.

Eur J Hum Genet. 2015 May;23(5):708-10. doi: 10.1038/ejhg.2014.167. Epub 2014 Aug 27.

33.

Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion.

Jones B, Byers H, Watson JS, Newman WG.

Clin Dysmorphol. 2014 Jul;23(3):95-7. doi: 10.1097/MCD.0000000000000043. No abstract available.

PMID:
24878828
34.

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG.

Fam Cancer. 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9.

PMID:
24659465
35.

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.

Evans DG, Ingham SL, Buchan I, Woodward ER, Byers H, Howell A, Maher ER, Newman WG, Lalloo F.

Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2269-76. doi: 10.1158/1055-9965.EPI-13-0316-T. Epub 2013 Nov 27.

36.

FSH receptor genotype does not predict metaphase-II oocyte output or fertilization rates in ICSI patients.

Mohiyiddeen L, Newman WG, Cerra C, Horne G, Mulugeta B, Byers H, Roberts SA, Nardo LG.

Reprod Biomed Online. 2013 Sep;27(3):305-9. doi: 10.1016/j.rbmo.2013.06.005. Epub 2013 Jun 20.

PMID:
23876973
37.

Intraocular biomarker identification in uveitis associated with juvenile idiopathic arthritis.

Kalinina Ayuso V, de Boer JH, Byers HL, Coulton GR, Dekkers J, de Visser L, van Loon AM, Schellekens PA, Rothova A, de Groot-Mijnes JD.

Invest Ophthalmol Vis Sci. 2013 May 1;54(5):3709-20. doi: 10.1167/iovs.12-10865.

PMID:
23633652
38.

Spontaneous ovarian hyperstimulation syndrome: case report, pathophysiological classification and diagnostic algorithm.

Panagiotopoulou N, Byers H, Newman WG, Bhatia K.

Eur J Obstet Gynecol Reprod Biol. 2013 Jul;169(2):143-8. doi: 10.1016/j.ejogrb.2013.03.004. Epub 2013 Apr 3. Review.

PMID:
23561021
39.

A proposed method to predict preterm birth using clinical data, standard maternal serum screening, and cholesterol.

Alleman BW, Smith AR, Byers HM, Bedell B, Ryckman KK, Murray JC, Borowski KS.

Am J Obstet Gynecol. 2013 Jun;208(6):472.e1-11. doi: 10.1016/j.ajog.2013.03.005. Epub 2013 Mar 15. Erratum in: Am J Obstet Gynecol. 2015 Mar;212(3):385.

40.

G6PC3 mutations cause non-syndromic severe congenital neutropenia.

Banka S, Wynn R, Byers H, Arkwright PD, Newman WG.

Mol Genet Metab. 2013 Feb;108(2):138-41. doi: 10.1016/j.ymgme.2012.12.001. Epub 2012 Dec 21.

PMID:
23298686
41.

Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.

Ingham SL, Warwick J, Byers H, Lalloo F, Newman WG, Evans DG.

Clin Genet. 2013 Jul;84(1):37-42. doi: 10.1111/cge.12035. Epub 2012 Nov 20.

PMID:
23050611
42.

Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Mann PC, Cooper ME, Ryckman KK, Comas B, Gili J, Crumley S, Bream EN, Byers HM, Piester T, Schaefer A, Christine PJ, Lawrence A, Schaa KL, Kelsey KJ, Berends SK, Momany AM, Gadow E, Cosentino V, Castilla EE, López Camelo J, Saleme C, Day LJ, England SK, Marazita ML, Dagle JM, Murray JC.

J Perinatol. 2013 May;33(5):336-40. doi: 10.1038/jp.2012.118. Epub 2012 Sep 27.

43.

Mixed Pneumocystis and Cryptococcus cutaneous infection histologically mimicking xanthoma.

Peña ZG, Byers HR, Lehmer LM, Smith CA, Ragsdale BD.

Am J Dermatopathol. 2013 Feb;35(1):e6-10. doi: 10.1097/DAD.0b013e318266b59a.

PMID:
22892474
44.

Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn.

Byers HM, Dagle JM, Klein JM, Ryckman KK, McDonald EL, Murray JC, Borowski KS.

Pediatr Res. 2012 Feb;71(2):162-7. doi: 10.1038/pr.2011.24. Epub 2011 Dec 21.

45.

Increased diagnosis of thin superficial spreading melanomas: A 20-year study.

Frangos JE, Duncan LM, Piris A, Nazarian RM, Mihm MC Jr, Hoang MP, Gleason B, Flotte TJ, Byers HR, Barnhill RL, Kimball AB.

J Am Acad Dermatol. 2012 Sep;67(3):387-94. doi: 10.1016/j.jaad.2011.10.026. Epub 2011 Dec 9.

PMID:
22153791
46.

Tyrosine phosphorylation of tau by the SRC family kinases lck and fyn.

Scales TM, Derkinderen P, Leung KY, Byers HL, Ward MA, Price C, Bird IN, Perera T, Kellie S, Williamson R, Anderton BH, Reynolds CH.

Mol Neurodegener. 2011 Jan 26;6:12. doi: 10.1186/1750-1326-6-12.

47.

Plasma gelsolin is decreased and correlates with rate of decline in Alzheimer's disease.

Güntert A, Campbell J, Saleem M, O'Brien DP, Thompson AJ, Byers HL, Ward MA, Lovestone S.

J Alzheimers Dis. 2010;21(2):585-96. doi: 10.3233/JAD-2010-100279.

PMID:
20571216
48.

RNAi-mediated knockdown of protein kinase C-alpha inhibits cell migration in MM-RU human metastatic melanoma cell line.

Byers HR, Boissel SJ, Tu C, Park HY.

Melanoma Res. 2010 Jun;20(3):171-8. doi: 10.1097/CMR.0b013e32832f1581.

PMID:
20216103
49.

Candidate verification of iron-regulated Neisseria meningitidis proteins using isotopic versions of tandem mass tags (TMT) and single reaction monitoring.

Byers HL, Campbell J, van Ulsen P, Tommassen J, Ward MA, Schulz-Knappe P, Prinz T, Kuhn K.

J Proteomics. 2009 Dec 1;73(2):231-9. doi: 10.1016/j.jprot.2009.09.002. Epub 2009 Sep 22.

PMID:
19778646
50.

A histological examination for skin atrophy after 6 months of treatment with fluocinolone acetonide 0.01%, hydroquinone 4%, and tretinoin 0.05% cream.

Bhawan J, Grimes P, Pandya AG, Keady M, Byers HR, Guevara IL, Colón LE, Johnson LA, Gottschalk R.

Am J Dermatopathol. 2009 Dec;31(8):794-8. doi: 10.1097/DAD.0b013e3181a9070d.

PMID:
19755910

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