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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1974 4
1975 2
1976 1
1979 1
1986 1
1988 1
1991 1
1992 1
1995 2
1997 2
1998 6
1999 3
2000 4
2001 1
2002 1
2003 1
2004 4
2005 2
2006 5
2007 6
2008 3
2009 2
2010 1
2011 4
2012 7
2013 4
2014 3
2015 9
2016 6
2017 5
2018 5
2019 5
2020 4
2021 7
2022 4
2023 5
2024 2
2025 4

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118 results

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Page 1
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. Among authors: whittle a. NPJ Genom Med. 2023 May 26;8(1):10. doi: 10.1038/s41525-023-00353-0. NPJ Genom Med. 2023. PMID: 37236975 Free PMC article.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: whittle a. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Chronic Lymphocytic Leukemia Therapy Guided by Measurable Residual Disease.
Munir T, Cairns DA, Bloor A, Allsup D, Cwynarski K, Pettitt A, Paneesha S, Fox CP, Eyre TA, Forconi F, Elmusharaf N, Kennedy B, Gribben J, Pemberton N, Sheehy O, Preston G, Schuh A, Walewska R, Duley L, Howard D, Hockaday A, Jackson S, Greatorex N, Girvan S, Bell S, Brown JM, Webster N, Dalal S, de Tute R, Rawstron A, Patten PEM, Hillmen P; National Cancer Research Institute Chronic Lymphocytic Leukemia Subgroup. Munir T, et al. N Engl J Med. 2024 Jan 25;390(4):326-337. doi: 10.1056/NEJMoa2310063. Epub 2023 Dec 10. N Engl J Med. 2024. PMID: 38078508 Clinical Trial.
Measurable Residual Disease-Guided Therapy for Chronic Lymphocytic Leukemia.
Munir T, Girvan S, Cairns DA, Bloor A, Allsup D, Varghese AM, Gohil S, Paneesha S, Pettitt A, Eyre T, Fox CP, Forconi F, Kennedy B, Balotis C, Pemberton N, Sheehy O, Gribben J, Elmusharaf N, Gatto S, Preston G, Schuh A, Walewska R, Duley L, Webster N, Dalal S, Rawstron A, Howard D, Hockaday A, Jackson S, Greatorex N, Bell S, Stones D, Brown JM, Patten PEM, Hillmen P; UK CLL Trials Group. Munir T, et al. N Engl J Med. 2025 Sep 25;393(12):1177-1190. doi: 10.1056/NEJMoa2504341. Epub 2025 Jun 15. N Engl J Med. 2025. PMID: 40521799 Free article. Clinical Trial.
Profiling mouse brown and white adipocytes to identify metabolically relevant small ORFs and functional microproteins.
Martinez TF, Lyons-Abbott S, Bookout AL, De Souza EV, Donaldson C, Vaughan JM, Lau C, Abramov A, Baquero AF, Baquero K, Friedrich D, Huard J, Davis R, Kim B, Koch T, Mercer AJ, Misquith A, Murray SA, Perry S, Pino LK, Sanford C, Simon A, Zhang Y, Zipp G, Bizarro CV, Shokhirev MN, Whittle AJ, Searle BC, MacCoss MJ, Saghatelian A, Barnes CA. Martinez TF, et al. Among authors: whittle aj. Cell Metab. 2023 Jan 3;35(1):166-183.e11. doi: 10.1016/j.cmet.2022.12.004. Cell Metab. 2023. PMID: 36599300 Free PMC article.
Genome flux and stasis in a five millennium transect of European prehistory.
Gamba C, Jones ER, Teasdale MD, McLaughlin RL, Gonzalez-Fortes G, Mattiangeli V, Domboróczki L, Kővári I, Pap I, Anders A, Whittle A, Dani J, Raczky P, Higham TF, Hofreiter M, Bradley DG, Pinhasi R. Gamba C, et al. Among authors: whittle a. Nat Commun. 2014 Oct 21;5:5257. doi: 10.1038/ncomms6257. Nat Commun. 2014. PMID: 25334030 Free PMC article.
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. Among authors: whittle a. NPJ Genom Med. 2023 Oct 23;8(1):34. doi: 10.1038/s41525-023-00382-9. NPJ Genom Med. 2023. PMID: 37872195 Free PMC article. No abstract available.
118 results