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Page 1
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Among authors: schnur re. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free PMC article.
Linkage analysis in X-linked ocular albinism.
Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA. Schnur RE, et al. Genomics. 1991 Apr;9(4):605-13. doi: 10.1016/0888-7543(91)90353-g. Genomics. 1991. PMID: 1674724
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK. Ma L, et al. Among authors: schnur re. Hum Genet. 2016 Dec;135(12):1399-1409. doi: 10.1007/s00439-016-1731-1. Epub 2016 Sep 28. Hum Genet. 2016. PMID: 27681385 Free PMC article.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: schnur re. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 Free article.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: schnur re. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 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: schnur re. 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.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE. Snijders Blok L, et al. Among authors: schnur re. Genet Med. 2021 Mar;23(3):534-542. doi: 10.1038/s41436-020-01016-6. Epub 2020 Oct 28. Genet Med. 2021. PMID: 33110267 Free PMC article.
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: schnur re. 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.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Brunet T, et al. Among authors: schnur re. Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11. Genet Med. 2021. PMID: 33173220 Free PMC article.
104 results