Allen N. Lamb

MetroHealth — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index5.4kcitations78works1.42yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(50), Prenatal Screening and Diagnostics(22), Chromosomal and Genetic Variations(20), Genetics and Neurodevelopmental Disorders(12), Genomics and Rare Diseases(11)

Publications78 total

The Importance of a Multidisciplinary Team Approach in a Rare Case of Antenatally Diagnosed Tonne-Kalscheuer Syndrome
Cureus·2026Open Access
521P Real-world study on ESR1 positivity rate in relation to length of exposure on endocrine therapy +/- CDK4/6i
Annals of Oncology·2025
527P Real-world study on rates of positivity for ESR1, PIK3CA, PTEN, and ATK1 among ER+/HER2- metastatic breast cancer patients
Annals of Oncology·2025
506P Real-world study on the significance of next generation sequencing testing for ESR1 in ER+/HER2 : Metastatic breast cancer patients after endocrine therapy progression
Annals of Oncology·2025
440eP Quality initiative for patients with HR+/HER2-, node-positive, early breast cancer at a high risk of recurrence
Annals of Oncology·2025
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family
European Journal of Human Genetics·2025· 1 citedOpen Access
Abrupt transformation of West Greenland lakes following compound climate extremes associated with atmospheric rivers
Proceedings of the National Academy of Sciences·2025· 9 citedOpen Access
OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory
Genetics in Medicine·2022Open Access
44. Reevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated process
Cancer Genetics·2021
11. Validation and implementation of BioDot instruments for semi-automated FISH slide processing
Cancer Genetics·2021
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
UNC Libraries·2020· 4 citedOpen Access
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature
Molecular Cytogenetics·2019· 5 citedOpen Access
A Novel Homozygous Deletion within the <b><i>FRY</i></b> Gene Associated with Nonsyndromic Developmental Delay
Cytogenetic and Genome Research·2019· 9 cited
Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature
Journal of Child Neurology·2018· 2 cited
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Human Mutation·2018· 42 citedOpen Access
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine·2018· 69 citedOpen Access
Prenatal detection of uniparental disomy of chromosome 2 carrying a <i>CHRND</i> pathogenic variant that causes lethal multiple pterygium syndrome
Clinical Genetics·2018· 4 cited
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder
European Journal of Medical Genetics·2016· 23 cited
The Clinical Spectrum Associated With Xq25q26 Duplications: A Report of Two Novel Duplications and Review of the Literature
Cancer Genetics·2016
Y Chromosome Microdeletion Detection by Cytoscan HD Microarray Platform
Cancer Genetics·2015
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Frequent Co-authors

Lisa G. Shaffer(19), Jill A. Rosenfeld(16), Blake C. Ballif(14), Beth S. Torchia(10), Roger A. Schultz(9), J. Britt Ravnan(8), Bassem A. Bejjani(7), Trilochan Sahoo(6), Nicholas J. Neill(5), Sarah T. South(4), Ryan N. Traylor(4), Aaron Theisen(4), Brian Bunke(3), Ankita Patel(3), James Bartley(3), Sarah Alliman(3), Justine Coppinger(3), Patricia I. Bader(3), Raymond C. Tervo(3), Michael Marble(3)