J. Britt Ravnan

PerkinElmer (United States) — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

15h-index1.8kcitations27works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(15), Prenatal Screening and Diagnostics(11), Congenital heart defects research(5), Genetic Syndromes and Imprinting(4), Chromosomal and Genetic Variations(3)

Publications27 total

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
American Journal of Medical Genetics Part A·2014· 52 cited
Erratum
Fetal Diagnosis and Therapy·2014
Erratum
Fetal Diagnosis and Therapy·2014
Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens
Fetal Diagnosis and Therapy·2014· 10 cited
Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Human Mutation·2013· 49 cited
Experience With Microarray-Based Comparative Genomic Hybridization for Prenatal Diagnosis in Over 5000 Pregnancies
Obstetrical & Gynecological Survey·2013· 9 cited
Clinical Utility of Chromosomal Microarray Analysis
PEDIATRICS·2012· 55 cited
Experience with microarray‐based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
Prenatal Diagnosis·2012· 241 citedOpen Access
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
Prenatal Diagnosis·2012· 264 citedOpen Access
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis
Genetics in Medicine·2012· 19 citedOpen Access
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly
Molecular Syndromology·2012· 6 citedOpen Access
710: A targeted approach for the prenatal detection of common aneuploidies and 15 microdeletion syndromes
American Journal of Obstetrics and Gynecology·2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Human Genetics·2011· 145 cited
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
Genetics in Medicine·2011· 118 cited
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
Prenatal Diagnosis·2011· 44 cited
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
Genome Research·2011· 57 citedOpen Access
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
Genetics in Medicine·2010· 169 citedOpen Access
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity
American Journal of Medical Genetics Part A·2006· 8 cited
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion
Prenatal Diagnosis·2006· 77 cited
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
Journal of Medical Genetics·2005· 412 citedOpen Access
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Frequent Co-authors

Jill A. Rosenfeld(14), Beth S. Torchia(14), Lisa G. Shaffer(13), Jay W. Ellison(9), Blake C. Ballif(9), Allen N. Lamb(9), Roger A. Schultz(8), Justine Coppinger(6), Allan J. Fisher(6), Nicholas J. Neill(5), Mindy Preston Dabell(4), Scott G. Sulpizio(4), Rachel Michaelson‐Cohen(4), Druckerei Stückle(4), Anne M. Bandholz(3), Bassem A. Bejjani(3), Ryan N. Traylor(3), S. Anne Morton(3), Cathryn Hummel(3), Lisa D. McDaniel(3)