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Page 1
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Ng BG, et al. Among authors: monteiro fp. Hum Mutat. 2015 Nov;36(11):1048-51. doi: 10.1002/humu.22856. Epub 2015 Aug 27. Hum Mutat. 2015. PMID: 26264460 Free PMC article.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F. Inuzuka LM, et al. Among authors: monteiro fp. Epileptic Disord. 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. Epileptic Disord. 2020. PMID: 32597767
Parental germline mosaicism in SCN3A-related severe developmental disorder.
Inuzuka LM, Macedo-Souza LI, Guerra-Peixe M, Cobas Pedreira C, Della-Ripa B, Souza Delgado D, Monteiro F, Kitajima JP, Garzon E, Kok F. Inuzuka LM, et al. Brain Dev. 2021 May;43(5):669-670. doi: 10.1016/j.braindev.2020.12.013. Epub 2021 Jan 22. Brain Dev. 2021. PMID: 33494954 No abstract available.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: monteiro fp. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F. Inuzuka LM, et al. Among authors: monteiro fp. Eur J Paediatr Neurol. 2021 Sep;34:7-13. doi: 10.1016/j.ejpn.2021.05.013. Epub 2021 Jun 21. Eur J Paediatr Neurol. 2021. PMID: 34271245
53 results