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

168 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
GermOnline, a cross-species community knowledgebase on germ cell differentiation.
Wiederkehr C, Basavaraj R, Sarrauste de Menthière C, Hermida L, Koch R, Schlecht U, Amon A, Brachat S, Breitenbach M, Briza P, Caburet S, Cherry M, Davis R, Deutschbauer A, Dickinson HG, Dumitrescu T, Fellous M, Goldman A, Grootegoed JA, Hawley R, Ishii R, Jégou B, Kaufman RJ, Klein F, Lamb N, Maro B, Nasmyth K, Nicolas A, Orr-Weaver T, Philippsen P, Pineau C, Rabitsch KP, Reinke V, Roest H, Saunders W, Schröder M, Schedl T, Siep M, Villeneuve A, Wolgemuth DJ, Yamamoto M, Zickler D, Esposito RE, Primig M. Wiederkehr C, et al. Among authors: schedl t. Nucleic Acids Res. 2004 Jan 1;32(Database issue):D560-7. doi: 10.1093/nar/gkh055. Nucleic Acids Res. 2004. PMID: 14681481 Free PMC article.
GermOnline, a new cross-species community annotation database on germ-line development and gametogenesis.
Primig M, Wiederkehr C, Basavaraj R, Sarrauste de Menthière C, Hermida L, Koch R, Schlecht U, Dickinson HG, Fellous M, Grootegoed JA, Hawley RS, Jégou B, Maro B, Nicolas A, Orr-Weaver T, Schedl T, Villeneuve A, Wolgemuth DJ, Yamamoto M, Zickler D, Lamb N, Esposito RE. Primig M, et al. Among authors: schedl t. Nat Genet. 2003 Dec;35(4):291-2. doi: 10.1038/ng1203-291. Nat Genet. 2003. PMID: 14647278 No abstract available.
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Baldridge D, Wangler MF, Bowman AN, Yamamoto S; Undiagnosed Diseases Network; Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Baldridge D, et al. Among authors: schedl t. Orphanet J Rare Dis. 2021 May 7;16(1):206. doi: 10.1186/s13023-021-01839-9. Orphanet J Rare Dis. 2021. PMID: 33962631 Free PMC article.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327508 Free PMC article.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Ravenscroft TA, et al. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113007 Free PMC article.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network; Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. Barish S, et al. Hum Mol Genet. 2022 Aug 25;31(17):2934-2950. doi: 10.1093/hmg/ddac085. Hum Mol Genet. 2022. PMID: 35405010 Free PMC article.
168 results