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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Among authors: sudhakar s. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R, Efthymiou S, Suri M, Rahman F, Zaki MS, Maqbool S, Anwa N, Ruiz-Pérez VL, Yanovsky-Dagan S, Elpeleg O, Sudhakar S, Mankad K, Harel T, Houlden H. Maroofian R, et al. Among authors: sudhakar s. J Med Genet. 2023 Aug;60(8):791-796. doi: 10.1136/jmg-2022-108566. Epub 2022 Dec 29. J Med Genet. 2023. PMID: 36581449 Free PMC article.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M, Kaliakatsos M, Valentine J, Nemeth AH, Jayawant S, Reid KM, Mankad K, Sudhakar S, Ben-Pazi H, Barwick K, Kurian MA. Steel DBD, et al. Among authors: sudhakar s. Neurology. 2023 May 23;100(21):e2214-e2223. doi: 10.1212/WNL.0000000000207241. Epub 2023 Apr 11. Neurology. 2023. PMID: 37041080 Free PMC article.
International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal Cord.
Balani A, Sidpra J, Sudhakar S, Biswas A, Öztekin Ö, Capra V, Catala M, Copp AJ, Kumar N, Johal N, Tahir MZ, Thompson D, Pang D, Mirsky DM, Ho ML, Huisman TAGM, Rossi A, Mankad K. Balani A, et al. Among authors: sudhakar s. AJNR Am J Neuroradiol. 2024 Feb 15. doi: 10.3174/ajnr.A8117. Online ahead of print. AJNR Am J Neuroradiol. 2024. PMID: 38360788 Review.
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M, Kurian MA. Reid KM, et al. Among authors: sudhakar s. Cells. 2023 Mar 30;12(7):1046. doi: 10.3390/cells12071046. Cells. 2023. PMID: 37048120 Free PMC article.
252 results