Kelly Radtke
Overview
Explore the profile of Kelly Radtke including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
24
Citations
575
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0
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Recent Articles
1.
Iwata-Otsubo A, Skraban C, Yoshimura A, Sakata T, Alves C, Fiordaliso S, et al.
Hum Genet
. 2024 Mar;
143(3):437-453.
PMID: 38520561
General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase III (Pol III) to mediate...
2.
Rehm H, Alaimo J, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, et al.
Genet Med
. 2023 Aug;
25(12):100947.
PMID: 37534744
Purpose: Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by...
3.
DiStefano M, Goehringer S, Babb L, Alkuraya F, Amberger J, Amin M, et al.
Genet Med
. 2022 May;
24(8):1732-1742.
PMID: 35507016
Purpose: Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence...
4.
Towne M, Rossi M, Wayburn B, Huang J, Radtke K, Alcaraz W, et al.
Hum Mutat
. 2022 Feb;
43(6):772-781.
PMID: 35143109
Although the rates of disease gene discovery have steadily increased with the expanding use of genome and exome sequencing by clinical and research laboratories, only ~16% of genes in the...
5.
den Hoed J, de Boer E, Voisin N, Dingemans A, Guex N, Wiel L, et al.
Am J Hum Genet
. 2021 Jan;
108(2):346-356.
PMID: 33513338
Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different...
6.
Bryant L, Li D, Cox S, Marchione D, Joiner E, Wilson K, et al.
Sci Adv
. 2020 Dec;
6(49).
PMID: 33268356
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone...
7.
Rabin R, Radmanesh A, Glass I, Dobyns W, Aldinger K, Shieh J, et al.
Am J Med Genet A
. 2020 Jul;
182(9):2037-2048.
PMID: 32710489
The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and...
8.
Mak C, Doherty D, Lin A, Vegas N, Cho M, Viot G, et al.
Brain
. 2019 Dec;
143(1):55-68.
PMID: 31834374
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals...
9.
Powis Z, Towne M, Hagman K, Blanco K, Palmaer E, Castro A, et al.
Clin Genet
. 2019 Oct;
97(2):305-311.
PMID: 31628766
Patients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal and family history data were collected from test requisition...
10.
Smith E, Blanco K, Sajan S, Hunter J, Shinde D, Wayburn B, et al.
Genet Med
. 2019 Mar;
21(10):2199-2207.
PMID: 30894705
Purpose: We evaluated clinical and genetic features enriched in patients with multiple Mendelian conditions to determine which patients are more likely to have multiple potentially relevant genetic findings (MPRF). Methods:...