Sally Rosengren

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 627 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4)

Tao Yang, Hilmar Viđarsson, Sandra Rodrigo-Blomqvist et al. · The American Journal of Human Genetics · 2007 · 212 citations

Developmental Biology, Signal Transduction, Genetics +4

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Kristiina Avela, Marita Lipsanen‐Nyman, Niina Idänheimo et al. · Nature Genetics · 2000 · 189 citations

Natural Sciences, Genetics, Protein Genetics +7

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

Gary A. Bellus, Elaine Spector, Phyllis Speiser et al. · The American Journal of Human Genetics · 2000 · 172 citations · Full text

Developmental Biology, Mendelian Disorder, Bone Morphogenic Protein +9

Management and outcomes of pregnancies complicated by human B19 parvovirus infection: A prospective study

John F. Rodis, Dorothy Quinn, G. William Gary et al. · American Journal of Obstetrics and Gynecology · 1990 · 162 citations

Maternal Complication, Reproductive Health, Virology +6