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

Year Number of Results
2002 4
2003 1
2004 5
2005 8
2006 2
2007 4
2008 8
2009 2
2010 2
2011 9
2012 10
2013 10
2014 7
2015 7
2016 4
2017 4
2018 8
2019 3
2020 3
2021 2
2022 2
2023 2
2024 1

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96 results

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Page 1
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: chudley ae. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664
Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.
Lee YR, Thomas MG, Roychaudhury A, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Choi TI, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Chudley AE, Schwartz CE, Kim CH. Lee YR, et al. Among authors: chudley ae. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2683050. doi: 10.21203/rs.3.rs-2683050/v1. Res Sq. 2023. PMID: 36993381 Free PMC article. Preprint.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Among authors: chudley ae. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
Orthopaedic Aspects of SAMS Syndrome.
Schrander DE, Staal HM, Johnson CA, Calder A, Ghali N, Chudley AE, Stumpel CTRM. Schrander DE, et al. Among authors: chudley ae. J Pediatr Genet. 2020 Jul 29;11(1):51-58. doi: 10.1055/s-0040-1714700. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186391 Free PMC article.
Population-based prevalence of fetal alcohol spectrum disorder in Canada.
Popova S, Lange S, Poznyak V, Chudley AE, Shield KD, Reynolds JN, Murray M, Rehm J. Popova S, et al. Among authors: chudley ae. BMC Public Health. 2019 Jun 28;19(1):845. doi: 10.1186/s12889-019-7213-3. BMC Public Health. 2019. PMID: 31253131 Free PMC article.
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: chudley ae. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
UBE2A-related X-linked intellectual disability.
Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE. Stevenson RE, et al. Among authors: chudley ae. Clin Dysmorphol. 2019 Jan;28(1):1-6. doi: 10.1097/MCD.0000000000000242. Clin Dysmorphol. 2019. PMID: 30179896 Free PMC article.
96 results