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
11.
South S, Lamb A
Expert Opin Med Diagn
. 2013 Mar;
3(3):227-35.
PMID: 23488459
Background: Chromosome analysis from cells obtained by either amniocentesis or chorionic villi sampling has allowed for the detection of large clinically consequential genetic imbalances throughout the genome for several decades....
12.
Paciorkowski A, Traylor R, Rosenfeld J, Hoover J, Harris C, Winter S, et al.
Neurogenetics
. 2013 Feb;
14(2):99-111.
PMID: 23389741
MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported...
13.
Barber J, Rosenfeld J, Foulds N, Laird S, Bateman M, Thomas N, et al.
Am J Med Genet A
. 2013 Jan;
161A(3):487-500.
PMID: 23345203
The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another...
14.
Wapner R, Martin C, Levy B, Ballif B, Eng C, Zachary J, et al.
N Engl J Med
. 2012 Dec;
367(23):2175-84.
PMID: 23215555
Background: Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and...
15.
Lamb A, Rosenfeld J, Coppinger J, Dodge E, Dabell M, Torchia B, et al.
Genet Med
. 2012 Jul;
14(11):914-21.
PMID: 22766610
Purpose: To understand the ability of microarray-based comparative genomic hybridization to detect copy-number variation in the presence of maternal cell contamination. Methods: To simulate maternal cell contamination, normal female DNA...
16.
Lamb A, Rosenfeld J, Neill N, Talkowski M, Blumenthal I, Girirajan S, et al.
Hum Mutat
. 2012 Feb;
33(4):728-40.
PMID: 22290657
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated...
17.
Rosenfeld J, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, et al.
Neurogenetics
. 2012 Jan;
13(1):31-47.
PMID: 22218741
Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and Prader-Willi (PW)-like features. Only a minority of cases in the literature have...
18.
Lamb A
Clin Lab Med
. 2011 Nov;
31(4):615-30, ix.
PMID: 22118740
The recent development and clinical implementation of genomic microarrays has resulted in rapid and significant changes for postnatal studies in the field of cytogenetics. This article discusses the benefits and...
19.
Ballif B, Rosenfeld J, Traylor R, Theisen A, Bader P, Ladda R, et al.
Hum Genet
. 2011 Jul;
131(1):145-56.
PMID: 21800092
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies,...
20.
Sahoo T, Theisen A, Rosenfeld J, Lamb A, Ravnan J, Schultz R, et al.
Genet Med
. 2011 Jul;
13(10):868-80.
PMID: 21792059
Purpose: : Recently, molecular cytogenetic techniques have identified novel copy number variants in individuals with schizophrenia. However, no large-scale prospective studies have been performed to characterize the broader spectrum of...