Author

Rosalie B. Goldberg

Observed names: R B Goldberg, R Goldberg, R. Goldberg, Rosalie B Goldberg, Rosalie Goldberg

Institution: Albert Einstein College of Medicine

Observed institutions: University of Vermont, University of Iowa, Dalhousie University, Albert Einstein College of Medicine, Montefiore Medical Center, University of Wisconsin–Madison, Baylor College of Medicine, Yeshiva University, New York Eye and Ear Infirmary, John Peter Smith Hospital, Fred Hutch Cancer Center, Blythedale Children's Hospital, The Ohio State University

OpenAlex ID: A5110174045

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

2001 · Marco Tartaglia, Ernest L. Mehler, et al. · Nature Genetics · 1,736

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

1995 · M Karayiorgou, M A Morris, et al. · Proceedings of the National Academy of Sciences · 628

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

1978 · R J Shprintzen, R B Goldberg, et al. · PubMed · 593

Velo‐cardio‐facial syndrome: A review of 120 patients

1993 · Rosalie Goldberg, Beth Motzkin, et al. · American Journal of Medical Genetics · 422

Psychotic Illness in Patients Diagnosed with Velo-Cardio-Facial Syndrome and Their Relatives

1994 · Ann E. Pulver, Gerald Nestadt, et al. · The Journal of Nervous and Mental Disease · 421

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1992 · P.J Scambler, D Kelly, et al. · The Lancet · 416

Late‐Onset psychosis in the velo‐cardio‐facial syndrome

1992 · Robert J. Shprintzen, Rosalie Goldberg, et al. · American Journal of Medical Genetics · 402

Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome

1992 · Deborah A. Driscoll, Nancy B. Spinner, et al. · American Journal of Medical Genetics · 386

Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

1997 · C. Carlson, H. Sirotkin, et al. · The American Journal of Human Genetics · 363

Bipolar spectrum disorders in patients diagnosed with velo-cardio- facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

1996 · D F Papolos, G L Faedda, et al. · American Journal of Psychiatry · 357

Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome

1996 · Herbert M. Lachman, Bernice Morrow, et al. · American Journal of Medical Genetics · 306

The Velo-Cardio-Facial Syndrome: A Clinical and Genetic Analysis

1981 · Robert J. Shprintzen, Rosalie B. Goldberg, et al. · PEDIATRICS · 295

Anomalies associated with cleft lip, cleft palate, or both

1985 · Robert J. Shprintzen, Vicki L. Siegel‐Sadewitz, et al. · American Journal of Medical Genetics · 284

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

1995 · B Morrow, R Goldberg, et al. · PubMed Central · 245

Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

1998 · William A. Paznekas, Michael L. Cunningham, et al. · The American Journal of Human Genetics · 222

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Confirmation that the velo‐cardio‐facial syndrome is associated with haplo‐insufficiency of genes at chromosome 22q11

1993 · David Kelly, Rosalie Goldberg, et al. · American Journal of Medical Genetics · 181

AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation

2001 · L. Edelmann, E. Spiteri, et al. · The American Journal of Human Genetics · 176

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

1996 · G A Meyers, D Day, et al. · PubMed Central · 165

Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.

1997 · C Carlson, D Papolos, et al. · PubMed · 138

Velo‐cardio‐facial syndrome: Frequency and extent of 22q1l deletions

1995 · Elizabeth A. Lindsay, Rosalie Goldberg, et al. · American Journal of Medical Genetics · 126

Cardiac malformations in the velocardiofacial syndrome

1980 · Dennison Young, Robert J. Shprintzen, et al. · The American Journal of Cardiology · 114

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion

1993 · Beth Motzkin, Robert Marion, et al. · The Journal of Pediatrics · 103

Ocular Findings in the Facioauriculovertebral Sequence (Goldenhar-Gorlin Syndrome)

1985 · Ahmad M. Mansour, Frederick Wang, et al. · American Journal of Ophthalmology · 95

Ocular Findings in the Velo-cardio-facial Syndrome

1987 · Ahmad M Mansour, Rosalie B Goldberg, et al. · Journal of Pediatric Ophthalmology & Strabismus · 82

Hirschsprung megacolon and cleft palate in two sibs.

1981 · R B Goldberg, R J Shprintzen · PubMed · 79

Works count: 43

Citation count: 8,779

H-index: 32

I10-index: 35