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Publications by Lisa G Shaffer

Corrigendum: A Copy Number Variation Morbidity Map of Developmental Delay

Nature Genetics

Genetics

2014

English

Proximal Microdeletions and Microduplications of 1q21.1 Contribute to Variable Abnormal Phenotypes

European Journal of Human Genetics

Genetics

2012

English

Variability in Interpreting and Reporting Copy Number Changes Detected by Array-Based Technology in Clinical Laboratories

English

Microarray Analysis for Constitutional Cytogenetic Abnormalities

English

American College of Medical Genetics Guideline on the Cytogenetic Evaluation of the Individual With Developmental Delay or Mental Retardation

English

Delineation of Mechanisms and Regions of Dosage Imbalance in Complex Rearrangements of 1p36 Leads to a Putative Gene for Regulation of Cranial Suture Closure

European Journal of Human Genetics

Genetics

2004

English

FISHing for Mechanisms of Cytogenetically Defined Terminal Deletions Using Chromosome-Specific Subtelomeric Probes

European Journal of Human Genetics

Genetics

2000

English

Construction of a Natural Panel of 11p11.2 Deletions and Further Delineation of the Critical Region Involved in Potocki–Shaffer Syndrome

European Journal of Human Genetics

Genetics

2005

English

Genomic Organization and Chromosomal Localization of the Human Coxsackievirus B-Adenovirus Receptor Gene

English

Expanding the Clinical Phenotype of the 3q29 Microdeletion Syndrome and Characterization of the Reciprocal Microduplication

Molecular Cytogenetics

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Lisa G Shaffer

Corrigendum: A Copy Number Variation Morbidity Map of Developmental Delay

Proximal Microdeletions and Microduplications of 1q21.1 Contribute to Variable Abnormal Phenotypes

Variability in Interpreting and Reporting Copy Number Changes Detected by Array-Based Technology in Clinical Laboratories

Microarray Analysis for Constitutional Cytogenetic Abnormalities

American College of Medical Genetics Guideline on the Cytogenetic Evaluation of the Individual With Developmental Delay or Mental Retardation

Delineation of Mechanisms and Regions of Dosage Imbalance in Complex Rearrangements of 1p36 Leads to a Putative Gene for Regulation of Cranial Suture Closure

FISHing for Mechanisms of Cytogenetically Defined Terminal Deletions Using Chromosome-Specific Subtelomeric Probes

Construction of a Natural Panel of 11p11.2 Deletions and Further Delineation of the Critical Region Involved in Potocki–Shaffer Syndrome

Genomic Organization and Chromosomal Localization of the Human Coxsackievirus B-Adenovirus Receptor Gene

Expanding the Clinical Phenotype of the 3q29 Microdeletion Syndrome and Characterization of the Reciprocal Microduplication