Below are the most recent publications written about "Sequence Deletion" by people in Profiles.
-
Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 01; 197(1):e63843.
-
Tillmanns N, Lost J, Tabor J, Vasandani S, Vetsa S, Marianayagam N, Yalcin K, Erson-Omay EZ, von Reppert M, Jekel L, Merkaj S, Ramakrishnan D, Avesta A, de Oliveira Santo ID, Jin L, Huttner A, Bousabarah K, Ikuta I, Lin M, Aneja S, Turowski B, Aboian M, Moliterno J. Application of novel PACS-based informatics platform to identify imaging based predictors of CDKN2A allelic status in glioblastomas. Sci Rep. 2023 12 22; 13(1):22942.
-
Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S, O'Neill M, Ridgeway A, Moore J, Jorgez C, Lamb DJ. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. FASEB J. 2022 11; 36(11):e22567.
-
Hou PC, Tu WT, Chen PC, Guevara BEK, Yen YF, Huang HY, Lee JY, Tang MJ, Kuo PL, Mcgrath JA, Hsu CK. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa. Eur J Dermatol. 2021 Apr 01; 31(2):267-269.
-
Rout SS, Singh M, Shindler KS, Das Sarma J. One proline deletion in the fusion peptide of neurotropic mouse hepatitis virus (MHV) restricts retrograde axonal transport and neurodegeneration. J Biol Chem. 2020 05 15; 295(20):6926-6935.
-
Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. Mol Genet Genomic Med. 2019 11; 7(11):e975.
-
Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schr?ck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C. Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC Cancer. 2019 Aug 08; 19(1):787.
-
Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A, Giugliano T, Faldini C, Nigro V. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Skelet Muscle. 2019 05 27; 9(1):14.
-
Rakocevic G, Semenyuk V, Lee WP, Spencer J, Browning J, Johnson IJ, Arsenijevic V, Nadj J, Ghose K, Suciu MC, Ji SG, Demir G, Li L, Toptas B?, Dolgoborodov A, Pollex B, Spulber I, Glotova I, K?m?r P, Stachyra AL, Li Y, Popovic M, K?llberg M, Jain A, Kural D. Fast and accurate genomic analyses using genome graphs. Nat Genet. 2019 02; 51(2):354-362.
-
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May; 137(5):375-388.