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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium; Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G. Iqbal M, et al. Among authors: ades l. Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9. Genet Med. 2021. PMID: 34244665 Free PMC article.
PEHO and PEHO-like syndromes: report of five Australian cases.
Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Adès LC. Field MJ, et al. Among authors: ades lc. Am J Med Genet A. 2003 Sep 15;122A(1):6-12. doi: 10.1002/ajmg.a.20216. Am J Med Genet A. 2003. PMID: 12949965
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Murray JE, et al. Among authors: ades l. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8. Hum Mutat. 2014. PMID: 24123394 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: ades l. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS. Smits DJ, et al. Among authors: ades l. Hum Genet. 2023 Jul;142(7):949-964. doi: 10.1007/s00439-023-02569-7. Epub 2023 May 17. Hum Genet. 2023. PMID: 37198333 Free PMC article.
Smith-Fineman-Myers syndrome in two brothers.
Adès LC, Kerr B, Turner G, Wise G. Adès LC, et al. Am J Med Genet. 1991 Sep 15;40(4):467-70. doi: 10.1002/ajmg.1320400419. Am J Med Genet. 1991. PMID: 1684092
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM. Reardon W, et al. Among authors: ades l. J Med Genet. 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26. J Med Genet. 2000. PMID: 10633130 Free PMC article.
373 results