Anne M Slavotinek
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Explore the profile of Anne M Slavotinek including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Slavotinek A, Thompson M, Martin L, Gelb B
HGG Adv
. 2024 Mar;
5(3):100286.
PMID: 38521975
Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different...
2.
Bowling K, Thompson M, Kelly M, Scollon S, Slavotinek A, Powell B, et al.
Genome Med
. 2022 Nov;
14(1):131.
PMID: 36414972
Background: The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College of...
3.
Dias K, Carlston C, Blok L, de Hayr L, Nawaz U, Evans C, et al.
Genet Med
. 2022 Aug;
24(9):1952-1966.
PMID: 35916866
Purpose: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor...
4.
Riedhammer K, Burgemeister A, Cantagrel V, Amiel J, Siquier-Pernet K, Boddaert N, et al.
Hum Mol Genet
. 2022 May;
31(18):3083-3094.
PMID: 35512351
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman-El-Hattab...
5.
Modlin E, Slavotinek A, Darling T, Lipkowitz S, Barr F, Munster P, et al.
Am J Med Genet A
. 2022 Apr;
188(9):2766-2771.
PMID: 35441778
Proteus syndrome (PS) is a rare segmental overgrowth disorder caused by a mosaic activating variant in AKT1. The features of PS are often not present at birth but develop during...
6.
Rego S, Hoban H, Outram S, Zamora A, Chen F, Sahin-Hodoglugil N, et al.
Genet Med
. 2022 Apr;
24(6):1206-1216.
PMID: 35396980
Purpose: Patients undergoing clinical exome sequencing (ES) are routinely offered the option to receive secondary findings (SF). However, little is known about the views of individuals from underrepresented minority pediatric...
7.
Chen F, Ni C, Wang X, Cheng R, Pan C, Wang Y, et al.
EMBO Mol Med
. 2022 Apr;
14(5):e14904.
PMID: 35362222
In this report, we discovered a new entity named cataract, alopecia, oral mucosal disorder, and psoriasis-like (CAOP) syndrome in two unrelated and ethnically diverse patients. Furthermore, patient 1 failed to...
8.
Phillips K, Trosman J, Douglas M, Gelb B, Ferket B, Hindorff L, et al.
Genet Med
. 2021 Dec;
24(1):238-244.
PMID: 34906461
Purpose: There is limited payer coverage for genome sequencing (GS) relative to exome sequencing (ES) in the U.S. Our objective was to assess payers' considerations for coverage of GS versus...
9.
Biesecker L, Adam M, Alkuraya F, Amemiya A, Bamshad M, Beck A, et al.
Am J Hum Genet
. 2021 Sep;
108(9):1809-1810.
PMID: 34478656
No abstract available.
10.
Swanson K, Sparks T, Lianoglou B, Chen F, Downum S, Patel S, et al.
Prenat Diagn
. 2021 May;
42(6):753-761.
PMID: 34057224
Objective: We aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing in prenatal and pediatric settings. Methods: This was a secondary analysis of prospectively enrolled...