Chief:

Chief:

Contact Information: 301-503-1305

10 Center Drive
Building 10, Room 10N109
Bethesda, Maryland 20814

Selected publications

1. Sensitive extraction-free SARS-CoV-2 RNA virus detection using a novel RNA preparation method. 
Guan B, Frank KM, Maldonado JO, Beach M, Pelayo E, Warner BM, Hufnagel RB.
medRxiv. 2021 Feb 1:2021.01.29.21250790. doi: 10.1101/2021.01.29.21250790. Preprint.
PMID: 33532808

2. Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB.
Sci Rep. 2020 Nov 17;10(1):19986. doi: 10.1038/s41598-020-76725-8.
PMID: 33203948

3. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Goetz KE, Reeves MJ, Gagadam S, Blain D, Bender C, Lwin C, Naik A, Tumminia SJ, Hufnagel RB.
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):828-837. doi: 10.1002/ajmg.c.31843. Epub 2020 Sep 7.
PMID: 32893963

4. Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves MJ, Goetz KE, Guan B, Ullah E, Blain D, Zein WM, Tumminia SJ, Hufnagel RB.
Hum Mutat. 2020 Sep;41(9):1528-1539. doi: 10.1002/humu.24065. Epub 2020 Jul 5.
PMID: 32531846

5. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.
Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.
PMID: 31579823
 

Last updated: February 8, 2021