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

69 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Among authors: taylor amr. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Grange LJ, et al. Among authors: taylor amr. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
Blanchard-Rohner G, Peirolo A, Coulon L, Korff C, Horvath J, Burkhard PR, Gumy-Pause F, Ranza E, Jandus P, Dibra H, Taylor AMR, Fluss J. Blanchard-Rohner G, et al. Among authors: taylor amr. Front Immunol. 2022 Jan 28;13:791522. doi: 10.3389/fimmu.2022.791522. eCollection 2022. Front Immunol. 2022. PMID: 35154108 Free PMC article.
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group; Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC; Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups; Stoppa-Lyonnet D, Andrieu N. Lesueur F, et al. Among authors: taylor amr. Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14. Fam Cancer. 2022. PMID: 34125377 Free PMC article. Review.
Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.
Goldgraben MA, Fewings E, Larionov A, Scarth J, Redman J, Telford N, Arkwright PD, Bonney D, Wilks D, Kulkarni S, Taylor AMR, Tischkowitz MD, Meyer S. Goldgraben MA, et al. Among authors: taylor amr. Pediatr Blood Cancer. 2020 Sep;67(9):e28354. doi: 10.1002/pbc.28354. Epub 2020 May 8. Pediatr Blood Cancer. 2020. PMID: 32383811 No abstract available.
Integrative analysis of spontaneous CLL regression highlights genetic and microenvironmental interdependency in CLL.
Kwok M, Oldreive C, Rawstron AC, Goel A, Papatzikas G, Jones RE, Drennan S, Agathanggelou A, Sharma-Oates A, Evans P, Smith E, Dalal S, Mao J, Hollows R, Gordon N, Hamada M, Davies NJ, Parry H, Beggs AD, Munir T, Moreton P, Paneesha S, Pratt G, Taylor AMR, Forconi F, Baird DM, Cazier JB, Moss P, Hillmen P, Stankovic T. Kwok M, et al. Among authors: taylor amr. Blood. 2020 Feb 6;135(6):411-428. doi: 10.1182/blood.2019001262. Blood. 2020. PMID: 31794600 Free article.
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR, van de Warrenburg BPC, Willemsen MAAP. van Os NJH, et al. Among authors: taylor amr. J Neurol. 2020 Mar;267(3):830-837. doi: 10.1007/s00415-019-09641-1. Epub 2019 Nov 27. J Neurol. 2020. PMID: 31776720 Free PMC article.
69 results