Sally Rosengren
UConn Health(US)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Parvovirus B19 Infection Studies, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research
Most-Cited Works
- → Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities(2008)628 cited
- → Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4)(2007)213 cited
- → Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism(2000)189 cited
- → Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype(2000)172 cited
- → Management and outcomes of pregnancies complicated by human B19 parvovirus infection: A prospective study(1990)162 cited
- → Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes(2011)95 cited
- → Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader‐Willi syndrome and angelman syndrome(1994)54 cited
- → Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q(1999)41 cited
- → TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development(2015)37 cited
- → Early cirrhosis in survivors with Jeune thoracic dystrophy(1992)34 cited