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

51 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
From karyotypes to precision genomics in 9p deletion and duplication syndromes.
Sams EI, Ng JK, Tate V, Claire Hou YC, Cao Y, Antonacci-Fulton L, Belhassan K, Neidich J, Mitra RD, Cole FS, Dickson P, Milbrandt J, Turner TN. Sams EI, et al. Among authors: neidich j. HGG Adv. 2021 Dec 24;3(1):100081. doi: 10.1016/j.xhgg.2021.100081. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047865 Free PMC article.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Uguen K, et al. Among authors: neidich j. Clin Genet. 2021 Oct;100(4):386-395. doi: 10.1111/cge.14015. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34164801
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Claire Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. Claire Hou YC, et al. Among authors: neidich ja. Genet Med. 2023 Mar;25(3):100348. doi: 10.1016/j.gim.2022.11.016. Epub 2022 Dec 7. Genet Med. 2023. PMID: 36571464 Free article.
Clinical whole-genome sequencing in cancer diagnosis.
Hou YC, Neidich JA, Duncavage EJ, Spencer DH, Schroeder MC. Hou YC, et al. Among authors: neidich ja. Hum Mutat. 2022 Nov;43(11):1519-1530. doi: 10.1002/humu.24381. Epub 2022 Apr 26. Hum Mutat. 2022. PMID: 35471774 Review.
Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.
Duncavage EJ, Schroeder MC, O'Laughlin M, Wilson R, MacMillan S, Bohannon A, Kruchowski S, Garza J, Du F, Hughes AEO, Robinson J, Hughes E, Heath SE, Baty JD, Neidich J, Christopher MJ, Jacoby MA, Uy GL, Fulton RS, Miller CA, Payton JE, Link DC, Walter MJ, Westervelt P, DiPersio JF, Ley TJ, Spencer DH. Duncavage EJ, et al. Among authors: neidich j. N Engl J Med. 2021 Mar 11;384(10):924-935. doi: 10.1056/NEJMoa2024534. N Engl J Med. 2021. PMID: 33704937 Free PMC article.
Clinical application of whole-exome sequencing across clinical indications.
Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Retterer K, et al. Among authors: neidich j. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633542 Free article.
51 results