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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: salpietro v. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H. Salpietro V, et al. Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27. Hum Mutat. 2018. PMID: 29127725 Free PMC article.
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity.
Maroofian R, Behnam M, Kaiyrzhanov R, Salpietro V, Salehi M, Houlden H. Maroofian R, et al. Among authors: salpietro v. Neurol Genet. 2019 Nov 15;5(6):e379. doi: 10.1212/NXG.0000000000000379. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872057 Free PMC article. No abstract available.
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Among authors: salpietro v. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Cali E, et al. Among authors: salpietro v. Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399134 Free PMC article.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: salpietro v. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Among authors: salpietro v. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: salpietro v. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
207 results