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Page 1
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: bartoloni l. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS, Xu C, Papadakis GE, Niederländer NJ, Rademaker JD, Meylan J, Messina A, Kolesinska Z, Quinton R, Lang-Muritano M, Bartholdi D, Halperin I, De Geyter C, Bouligand J, Bartoloni L, Young J, Santoni FA, Pitteloud N. Acierno JS, et al. Among authors: bartoloni l. Genet Med. 2020 Nov;22(11):1759-1767. doi: 10.1038/s41436-020-0896-0. Epub 2020 Jul 29. Genet Med. 2020. PMID: 32724172 Free article.
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Moore DJ, et al. Among authors: bartoloni l. Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25. Am J Hum Genet. 2013. PMID: 23891471 Free PMC article.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A. Al-Jawahiri R, et al. Among authors: bartoloni l. Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24. Genet Med. 2022. PMID: 35341651 Free PMC article.
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.
Speer MC, Gilchrist JM, Stajich JM, Gaskell PC, Westbrook CA, Horrigan SK, Bartoloni L, Yamaoka LH, Scott WK, Pericak-Vance MA. Speer MC, et al. Among authors: bartoloni l. J Med Genet. 1998 Apr;35(4):305-8. doi: 10.1136/jmg.35.4.305. J Med Genet. 1998. PMID: 9598725 Free PMC article.
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Hauser MA, et al. Among authors: bartoloni l. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.
Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Saïl GD, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne PA, Delozier-Blanchet CD, Antonarakis SE. Blouin JL, et al. Among authors: bartoloni l. Eur J Hum Genet. 2000 Feb;8(2):109-18. doi: 10.1038/sj.ejhg.5200429. Eur J Hum Genet. 2000. PMID: 10757642
Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility.
Göcz B, Rumpler É, Sárvári M, Skrapits K, Takács S, Farkas I, Csillag V, Trinh SH, Bardóczi Z, Ruska Y, Solymosi N, Póliska S, Szőke Z, Bartoloni L, Zouaghi Y, Messina A, Pitteloud N, Anderson RC, Millar RP, Quinton R, Manchishi SM, Colledge WH, Hrabovszky E. Göcz B, et al. Among authors: bartoloni l. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2113749119. doi: 10.1073/pnas.2113749119. Epub 2022 Jun 28. Proc Natl Acad Sci U S A. 2022. PMID: 35763574 Free PMC article.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: bartoloni l. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
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