Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

147 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Among authors: bastarache l. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725
Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics.
Mosley JD, Shelley JP, Dickson AL, Zanussi J, Daniel LL, Zheng NS, Bastarache L, Wei WQ, Shi M, Jarvik GP, Rosenthal EA, Khan A, Sherafati A, Kullo IJ, Walunas TL, Glessner J, Hakonarson H, Cox NJ, Roden DM, Frangakis SG, Vanderwerff B, Stein CM, Van Driest SL, Borinstein SC, Shu XO, Zawistowski M, Chung CP, Kawai VK. Mosley JD, et al. Among authors: bastarache l. medRxiv [Preprint]. 2023 Aug 21:2023.08.20.23294331. doi: 10.1101/2023.08.20.23294331. medRxiv. 2023. PMID: 37662324 Free PMC article. Updated. Preprint.
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Shuey MM, Stead WW, Aka I, Barnado AL, Bastarache JA, Brokamp E, Campbell M, Carroll RJ, Goldstein JA, Lewis A, Malow BA, Mosley JD, Osterman T, Padovani-Claudio DA, Ramirez A, Roden DM, Schuler BA, Siew E, Sucre J, Thomsen I, Tinker RJ, Van Driest S, Walsh C, Warner JL, Wells QS, Wheless L, Bastarache L. Shuey MM, et al. Among authors: bastarache ja, bastarache l. Bioinformatics. 2023 Nov 1;39(11):btad655. doi: 10.1093/bioinformatics/btad655. Bioinformatics. 2023. PMID: 37930895 Free PMC article.
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
Denny JC, Crawford DC, Ritchie MD, Bielinski SJ, Basford MA, Bradford Y, Chai HS, Bastarache L, Zuvich R, Peissig P, Carrell D, Ramirez AH, Pathak J, Wilke RA, Rasmussen L, Wang X, Pacheco JA, Kho AN, Hayes MG, Weston N, Matsumoto M, Kopp PA, Newton KM, Jarvik GP, Li R, Manolio TA, Kullo IJ, Chute CG, Chisholm RL, Larson EB, McCarty CA, Masys DR, Roden DM, de Andrade M. Denny JC, et al. Among authors: bastarache l. Am J Hum Genet. 2011 Oct 7;89(4):529-42. doi: 10.1016/j.ajhg.2011.09.008. Am J Hum Genet. 2011. PMID: 21981779 Free PMC article.
147 results