LaDonna Immken
Overview
Explore the profile of LaDonna Immken including associated specialties, affiliations and a list of published articles.
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19
Citations
828
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Recent Articles
1.
Wang X, Posey J, Rosenfeld J, Bacino C, Scaglia F, Immken L, et al.
Ann Clin Transl Neurol
. 2018 Oct;
5(10):1277-1285.
PMID: 30349862
De variants in account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males)...
2.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, et al.
Genet Med
. 2018 Aug;
21(3):663-675.
PMID: 30158690
Purpose: Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a...
3.
Sajan S, Powis Z, Helbig K, Nagakura H, Immken L, Tang S, et al.
Clin Case Rep
. 2018 Jul;
6(7):1208-1213.
PMID: 29988648
Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of haploinsufficiency as well as UPD of chromosome...
4.
Lessel D, Schob C, Kury S, Reijnders M, Harel T, Eldomery M, et al.
Am J Hum Genet
. 2018 Jan;
102(1):196.
PMID: 29304375
No abstract available.
5.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, et al.
Am J Hum Genet
. 2018 Jan;
102(1):69-87.
PMID: 29290338
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype...
6.
Palmer E, Kumar R, Gordon C, Shaw M, Hubert L, Carroll R, et al.
Am J Hum Genet
. 2017 Dec;
101(6):995-1005.
PMID: 29198722
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome,...
7.
Lessel D, Schob C, Kury S, Reijnders M, Harel T, Eldomery M, et al.
Am J Hum Genet
. 2017 Nov;
101(5):716-724.
PMID: 29100085
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in DHX30...
8.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld J, Coban-Akdemir Z, et al.
Genome Med
. 2017 Sep;
9(1):83.
PMID: 28934986
Background: Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular diagnosis for...
9.
Balasubramanian K, Li B, Krakow D, Nevarez L, Ho P, Ainsworth J, et al.
Am J Med Genet A
. 2017 Jul;
173(9):2415-2421.
PMID: 28742282
Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, joint pain, and early-onset osteoarthropathy. Dominantly inherited mutations in COMP, MATN3, COL9A1, COL9A2, and COL9A3,...
10.
Millan F, Cho M, Retterer K, Monaghan K, Bai R, Vitazka P, et al.
Am J Med Genet A
. 2016 May;
170(7):1791-8.
PMID: 27133397
Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful...