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519 results

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Page 1
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. van Kuilenburg ABP, et al. Among authors: richmond pa. N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627. N Engl J Med. 2019. PMID: 30970188 Free PMC article.
JASPAR 2020: update of the open-access database of transcription factor binding profiles.
Fornes O, Castro-Mondragon JA, Khan A, van der Lee R, Zhang X, Richmond PA, Modi BP, Correard S, Gheorghe M, Baranašić D, Santana-Garcia W, Tan G, Chèneby J, Ballester B, Parcy F, Sandelin A, Lenhard B, Wasserman WW, Mathelier A. Fornes O, et al. Among authors: richmond pa. Nucleic Acids Res. 2020 Jan 8;48(D1):D87-D92. doi: 10.1093/nar/gkz1001. Nucleic Acids Res. 2020. PMID: 31701148 Free PMC article.
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, Bentley DR, Yuen RKC, Bahlo M, Eberle MA. Dolzhenko E, et al. Genome Biol. 2020 Apr 28;21(1):102. doi: 10.1186/s13059-020-02017-z. Genome Biol. 2020. PMID: 32345345 Free PMC article.
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy.
Richmond PA, van der Kloet F, Vaz FM, Lin D, Uzozie A, Graham E, Kobor M, Mostafavi S, Moerland PD, Lange PF, van Kampen AHC, Wasserman WW, Engelen M, Kemp S, van Karnebeek CDM. Richmond PA, et al. Front Cell Dev Biol. 2020 Jun 25;8:520. doi: 10.3389/fcell.2020.00520. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32671069 Free PMC article.
The variability conundrum in neurometabolic degenerative diseases.
van Karnebeek CDM, Richmond PA, van der Kloet F, Wasserman WW, Engelen M, Kemp S. van Karnebeek CDM, et al. Mol Genet Metab. 2020 Dec;131(4):367-369. doi: 10.1016/j.ymgme.2020.11.002. Epub 2020 Nov 6. Mol Genet Metab. 2020. PMID: 33246824 No abstract available.
519 results