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Allen N. Lamb

University of Utah
Genzyme

53

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11. Validation and implementation of BioDot instruments for semi-automated FISH slide processing

2021 Cancer Genetics and Cytogenetics
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44. Reevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated process

2021 Cancer Genetics and Cytogenetics
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Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

2019 Journal of Child Neurology
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A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

2019 Cytogenetic and Genome Research
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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

2018 Human Mutation
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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

2015 American Journal of Medical Genetics Part A
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Y Chromosome Microdeletion Detection by Cytoscan HD Microarray Platform

2015 Cancer Genetics and Cytogenetics
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Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.

2014 American Journal of Medical Genetics Part A
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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

2013 Genetics in Medicine
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Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

2013 Human Mutation
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Citations (35)