Allen N Lamb
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Explore the profile of Allen N Lamb including associated specialties, affiliations and a list of published articles.
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28
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1179
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Recent Articles
1.
Paulraj P, Bosworth M, Longhurst M, Hornbuckle C, Gotway G, Lamb A, et al.
Cytogenet Genome Res
. 2019 Sep;
159(1):19-25.
PMID: 31487712
The role of autosomal recessive (AR) variants in clinically heterogeneous conditions such as intellectual disability and developmental delay (ID/DD) has been difficult to uncover. Implication of causative pathogenic AR variants...
2.
Herriges J, Dugan S, Lamb A
Mol Cytogenet
. 2019 May;
12:20.
PMID: 31131026
Background: There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping 10q21.3q22.2 interstitial deletions, only nine have been...
3.
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...
4.
Riggs E, Nelson T, Merz A, Ackley T, Bunke B, Collins C, et al.
Hum Mutat
. 2018 Aug;
39(11):1650-1659.
PMID: 30095202
Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus...
5.
Waggoner D, Wain K, Dubuc A, Conlin L, Hickey S, Lamb A, et al.
Genet Med
. 2018 Jun;
20(10):1105-1113.
PMID: 29915380
Purpose: Chromosomal microarray (CMA) is recommended as the first-tier test in evaluation of individuals with neurodevelopmental disability and congenital anomalies. CMA may not detect balanced cytogenomic abnormalities or uniparental disomy...
6.
Bhat G, LaGrave D, Millson A, Herriges J, Lamb A, Matalon R
Eur J Med Genet
. 2016 May;
59(9):470-3.
PMID: 27238888
We report an 8-year-old female with autism spectrum disorder (ASD), intellectual disability and speech delay who was found to carry a de novo 82 kb deletion of chromosome Xq11.1-11.2 involving...
7.
Rosenfeld J, Fox J, Descartes M, Brewer F, Stroud T, Gorski J, et al.
Am J Med Genet A
. 2015 Mar;
167A(2):345-53.
PMID: 25756153
Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios,...
8.
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...
9.
South S, Lee C, Lamb A, Higgins A, Kearney H
Genet Med
. 2013 Sep;
15(11):901-9.
PMID: 24071793
Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple...
10.
Shuvarikov A, Campbell I, Dittwald P, Neill N, Bialer M, Moore C, et al.
Hum Mutat
. 2013 Jul;
34(10):1415-23.
PMID: 23878096
We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions of 3q13.2-q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and...