Elizabeth A Fanning
Overview
Explore the profile of Elizabeth A Fanning including associated specialties, affiliations and a list of published articles.
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Articles
10
Citations
52
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0
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Recent Articles
1.
Luo M, Wong D, Zelley K, Wu J, Schubert J, Denenberg E, et al.
J Natl Cancer Inst
. 2024 May;
116(8):1356-1365.
PMID: 38702830
Background: TP53 alterations are common in certain pediatric cancers, making identification of putative germline variants through tumor genomic profiling crucial for disease management. Methods: We analyzed TP53 alterations in 3123...
2.
Newman H, Clark M, Wong D, Wu J, Brodeur G, Hunger S, et al.
Haematologica
. 2024 Feb;
109(9):3024-3030.
PMID: 38385299
No abstract available.
3.
Lin F, Cao K, Chang F, Oved J, Luo M, Fan Z, et al.
J Mol Diagn
. 2023 Dec;
26(3):191-201.
PMID: 38103590
Inherited bone marrow failure syndromes (IBMFS) are a group of heterogeneous disorders that account for ∼30% of pediatric cases of bone marrow failure and are often associated with developmental abnormalities...
4.
Yamamoto N, Balciuniene J, Hartman T, Diaz-Miranda M, Bedoukian E, Devkota B, et al.
J Pediatr
. 2023 Jul;
262:113620.
PMID: 37473993
Objective: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands. Study Design:...
5.
Xu F, Aref-Eshghi E, Wu J, Schubert J, Wertheim G, Bhatti T, et al.
Cold Spring Harb Mol Case Stud
. 2022 Mar;
8(3).
PMID: 35232817
Li-Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types...
6.
Vetrini F, McKee S, Rosenfeld J, Suri M, Lewis A, Nugent K, et al.
Genome Med
. 2019 Mar;
11(1):16.
PMID: 30909959
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised...
7.
Vetrini F, McKee S, Rosenfeld J, Suri M, Lewis A, Nugent K, et al.
Genome Med
. 2019 Mar;
11(1):12.
PMID: 30819258
Background: Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large...
8.
Costantini A, Valta H, Baratang N, Yap P, Bertola D, Yamamoto G, et al.
Bone
. 2019 Jan;
121:163-171.
PMID: 30599297
Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with "corner...
9.
Niazi R, Fanning E, Depienne C, Sarmady M, Abou Tayoun A
Hum Mutat
. 2018 Dec;
40(3):243-257.
PMID: 30582250
The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. Heterozygous pathogenic variants in this gene are inherited...
10.