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Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
Feuillan PP, Ng D, Han JC, Sapp JC, Wetsch K, Spaulding E, Zheng YC, Caruso RC, Brooks BP, Johnston JJ, Yanovski JA, Biesecker LG. Feuillan PP, et al. Among authors: brooks bp. J Clin Endocrinol Metab. 2011 Mar;96(3):E528-35. doi: 10.1210/jc.2010-2290. Epub 2011 Jan 5. J Clin Endocrinol Metab. 2011. PMID: 21209035 Free PMC article.
Phenotype and course of Hutchinson-Gilford progeria syndrome.
Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Merideth MA, et al. Among authors: brooks bp. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898. N Engl J Med. 2008. PMID: 18256394 Free PMC article.
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE. Han JC, et al. Among authors: brooks bp. Cortex. 2013 Nov-Dec;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009. Epub 2013 Feb 19. Cortex. 2013. PMID: 23517654 Free PMC article.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: brooks bp. Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013. Am J Hum Genet. 2015. PMID: 26046366 Free PMC article.
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program; Manolio TA, Biesecker BB, Biesecker LG. Sapp JC, et al. Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122538 Free PMC article.
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Daich Varela M, Hufnagel RB, Guan B, Blain D, Sapp JC, Gropman AL, Alur R, Johnston JJ, Biesecker LG, Brooks BP. Daich Varela M, et al. Among authors: brooks bp. Ophthalmic Genet. 2021 Jun;42(3):320-325. doi: 10.1080/13816810.2021.1888127. Epub 2021 Mar 15. Ophthalmic Genet. 2021. PMID: 33719903 Free PMC article.
Absent optic chiasm presenting with horizontal nystagmus.
Salchow DJ, Kohlhase J, Miller M, Kadom N, FitzGibbon EJ, Caruso RC, Brooks BP. Salchow DJ, et al. Among authors: brooks bp. J Pediatr Ophthalmol Strabismus. 2010 May-Jun;47(3):187-91. doi: 10.3928/01913913-20090818-08. Epub 2010 May 20. J Pediatr Ophthalmol Strabismus. 2010. PMID: 20507004
167 results