Erin E Baldwin
Overview
Explore the profile of Erin E Baldwin including associated specialties, affiliations and a list of published articles.
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16
Citations
177
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Recent Articles
1.
Wen T, Boyden S, Hocutt C, Lewis R, Baldwin E, Vagher J, et al.
Blood Adv
. 2025 Mar;
PMID: 40029997
Diamond-Blackfan Anemia Syndrome (DBAS) is a rare congenital disorder with variable penetrance and expressivity, characterized by pure red cell aplasia that typically manifests as early-onset chronic macrocytic or normocytic anemia...
2.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
3.
Chen Y, Dawes R, Kim H, Stenton S, Walker S, Ljungdahl A, et al.
medRxiv
. 2024 Apr;
PMID: 38645094
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses...
4.
Herriges J, Arch E, Burgio P, Baldwin E, LaGrave D, Lamb A, et al.
J Child Neurol
. 2018 Nov;
34(2):86-93.
PMID: 30458662
To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb...
5.
Palmer C, Boudreault P, Baldwin E, Sinsheimer J
PLoS One
. 2014 Nov;
9(11):e111512.
PMID: 25375116
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the...
6.
Sdano M, Vanzo R, Martin M, Baldwin E, South S, Rope A, et al.
J Genet Couns
. 2014 Aug;
23(6):922-7.
PMID: 25120037
Mosaic chromosomal abnormalities are relatively common. However, mosaicism may be missed due to multiple factors including failure to recognize clinical indications and order appropriate testing, technical limitations of diagnostic assays,...
7.
Andersen E, Baldwin E, Ellingwood S, Smith R, Lamb A
Am J Med Genet A
. 2014 Apr;
164A(7):1795-801.
PMID: 24700761
Duplications involving terminal Xq28 are a known cause of intellectual disability (ID) in males and in females with unfavorable X-inactivation patterns. Within Xq28, functional disomy of MECP2 causes a severe...
8.
Chidsey B, Baldwin E, Toydemir R, Ahles L, Hanson H, Stevenson D
Am J Med Genet A
. 2014 Mar;
164A(6):1555-8.
PMID: 24668863
L1 syndrome is a group of overlapping, X-linked disorders caused by mutations in L1CAM. Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS);...
9.
Miller C, Krautscheid P, Baldwin E, Tvrdik T, Openshaw A, Hart K, et al.
Am J Med Genet A
. 2014 Mar;
164A(5):1094-101.
PMID: 24665052
Genetic tests are routinely ordered by health care providers (HCPs) within a wide range of medical specialties. Many providers have limited knowledge or experience with ordering and interpreting genetic tests;...
10.
Palmer C, Boudreault P, Baldwin E, Fox M, Deignan J, Kobayashi Y, et al.
J Genet Couns
. 2013 Feb;
22(4):492-507.
PMID: 23430402
Limited data suggest that enhanced self-knowledge from genetic information related to non-medical traits can have a positive impact on psychological well-being. Deaf individuals undertake genetic testing for deaf genes to...