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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

188 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Mallawaarachchi AC, Fowles L, Wardrop L, Wood A, O'Shea R, Biros E, Harris T, Alexander SI, Bodek S, Boudville N, Burke J, Burnett L, Casauria S, Chadban S, Chakera A, Crafter S, Dai P, De Fazio P, Faull R, Honda A, Huntley V, Jahan S, Jayasinghe K, Jose M, Leaver A, MacShane M, Madelli EO, Nicholls K, Pawlowski R, Rangan G, Snelling P, Soraru J, Sundaram M, Tchan M, Valente G, Wallis M, Wedd L, Welland M, Whitlam J, Wilkins EJ, McCarthy H, Simons C, Quinlan C, Patel C, Stark Z, Mallett AJ. Mallawaarachchi AC, et al. Among authors: welland m. Clin J Am Soc Nephrol. 2024 Jul 1;19(7):887-897. doi: 10.2215/CJN.0000000000000464. Epub 2024 May 3. Clin J Am Soc Nephrol. 2024. PMID: 38861662
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. J Med Genet. 2024. PMID: 38458752 Free PMC article.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium; Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J. Schönauer R, et al. Gastroenterology. 2024 May;166(5):902-914. doi: 10.1053/j.gastro.2023.12.007. Epub 2023 Dec 13. Gastroenterology. 2024. PMID: 38101549 Free article.
Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, Moore DA, Houlston RS, Bafna V, Chang HY, Nik-Zainal S, Kanu N, McGranahan N; Genomics England Consortium; Flanagan AM, Mischel PS, Jamal-Hanjani M, Swanton C. Bailey C, et al. Nature. 2024 Nov;635(8037):193-200. doi: 10.1038/s41586-024-08107-3. Epub 2024 Nov 6. Nature. 2024. PMID: 39506150 Free PMC article.
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
Leong IUS, Cabrera CP, Cipriani V, Ross PJ, Turner RM, Stuckey A, Sanghvi S, Pasko D, Moutsianas L, Odhams CA, Elgar GS, Chan G, Giess A, Walker S, Foulger RE, Williams EM, Daugherty LC, Rueda-Martin A, Rhodes DJ, Niblock O, Pickard A, Marks L, Leigh SEA, Welland MJ, Bleda M, Snow C, Deans Z, Murugaesu N, Scott RH, Barnes MR, Brown MA, Rendon A, Hill S, Sosinsky A, Caulfield MJ, McDonagh EM. Leong IUS, et al. Among authors: welland mj. J Clin Oncol. 2024 Oct 31:JCO2302761. doi: 10.1200/JCO.23.02761. Online ahead of print. J Clin Oncol. 2024. PMID: 39481076
188 results