Korf BR - Search Results

1

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.

Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC. Smith HS, et al. Among authors: korf br. Am J Hum Genet. 2024 Oct 3;111(10):2094-2106. doi: 10.1016/j.ajhg.2024.08.011. Epub 2024 Sep 16. Am J Hum Genet. 2024. PMID: 39288765

2

Errors in genome sequencing result disclosures: A randomized controlled trial comparing neonatology non-genetics healthcare professionals and genetic counselors.

Coleman TF, Pugh J, Kelley WV, East KM, Greve V, Finnila CR, Henson A, Korf BR, Barsh GS, Cooper GM, Cochran ME. Coleman TF, et al. Among authors: korf br. Genet Med. 2024 Sep;26(9):101198. doi: 10.1016/j.gim.2024.101198. Epub 2024 Jun 25. Genet Med. 2024. PMID: 38943479 Clinical Trial.

3

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones.

Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR; Undiagnosed Diseases Network. Mulvihill JJ, et al. Genet Med. 2024 Oct;26(10):101203. doi: 10.1016/j.gim.2024.101203. Epub 2024 Jul 2. Genet Med. 2024. PMID: 38967101

4

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. Borroto MC, et al. Among authors: korf br. Genes (Basel). 2024 Aug 6;15(8):1033. doi: 10.3390/genes15081033. Genes (Basel). 2024. PMID: 39202393 Free PMC article.

5

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S; Undiagnosed Diseases Network; Phillips JA 3rd, Stoler J, Taylor H, Zuchner S, Tekin M. Borja NA, et al. Am J Med Genet A. 2024 Oct 14:e63904. doi: 10.1002/ajmg.a.63904. Online ahead of print. Am J Med Genet A. 2024. PMID: 39400494

6

Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications.

Feero WG, Steiner RD, Slavotinek A, Faial T, Bamshad MJ, Austin J, Korf BR, Flanagin A, Bibbins-Domingo K. Feero WG, et al. Among authors: korf br. Am J Hum Genet. 2024 Apr 4;111(4):621-623. doi: 10.1016/j.ajhg.2024.03.003. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479392 Free PMC article. No abstract available.

7

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd; Undiagnosed Diseases Network. Ezell KM, et al. Am J Med Genet A. 2024 Jul;194(7):e63597. doi: 10.1002/ajmg.a.63597. Epub 2024 Mar 21. Am J Med Genet A. 2024. PMID: 38511854

8

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

McNamee L, Schoch K, Huang A, Lee H, Wang LK, Smith EC, Lark RK, Buckley AF, Jobanputra V, Nelson SF, Shashi V; Undiagnosed Diseases Network. McNamee L, et al. Am J Med Genet A. 2024 Nov;194(11):e63798. doi: 10.1002/ajmg.a.63798. Epub 2024 Jun 24. Am J Med Genet A. 2024. PMID: 38924341

9

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Stellacci E, Carter JN, Pannone L, Stevenson D, Moslehi D, Venanzi S; Undiagnosed Diseases Network; Bernstein JA, Tartaglia M, Martinelli S. Stellacci E, et al. Am J Med Genet A. 2024 Aug;194(8):e63627. doi: 10.1002/ajmg.a.63627. Epub 2024 Apr 12. Am J Med Genet A. 2024. PMID: 38613168

10

Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications.

Gregory Feero W, Steiner RD, Slavotinek A, Faial T, Bamshad MJ, Austin J, Korf BR, Flanagin A, Bibbins-Domingo K. Gregory Feero W, et al. Among authors: korf br. Genet Med. 2024 May;26(5):101118. doi: 10.1016/j.gim.2024.101118. Epub 2024 Mar 12. Genet Med. 2024. PMID: 38488074 Free article. No abstract available.

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