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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.
Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J. Huppke P, et al. Among authors: millan f. Nat Commun. 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7. Nat Commun. 2017. PMID: 29018201 Free PMC article.
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK. Beck DB, et al. Among authors: millan f. Neurogenetics. 2016 Jul;17(3):173-8. doi: 10.1007/s10048-016-0482-4. Epub 2016 Apr 19. Neurogenetics. 2016. PMID: 27094857
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC. Dines JN, et al. Among authors: millan f. Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245509 Free PMC article.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC. Singh S, et al. Among authors: millan f. Genet Med. 2020 Aug;22(8):1413-1417. doi: 10.1038/s41436-020-0815-4. Epub 2020 May 5. Genet Med. 2020. PMID: 32366965 Free PMC article.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC. Dines JN, et al. Among authors: millan f. Genet Med. 2019 Aug;21(8):1899. doi: 10.1038/s41436-018-0336-6. Genet Med. 2019. PMID: 30327536 Free PMC article.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: millan f. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian I, Wheeler PG, Crain C, Zand D, Weinstein V, Vernon HJ, McClellan R, Krishnamurthy V, Vitazka P, Millan F, Chung WK. Ye Y, et al. Among authors: millan f. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148570 Free PMC article.
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Jin SC, et al. Among authors: millan f. Nat Genet. 2020 Oct;52(10):1046-1056. doi: 10.1038/s41588-020-0695-1. Epub 2020 Sep 28. Nat Genet. 2020. PMID: 32989326 Free PMC article.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Among authors: millan f. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Genet Med. 2021. PMID: 33239752 Free PMC article.
170 results