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V. Proud · SciRah

Researcher profile · Semantic Scholar

V. Proud

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V. Proud — researcher profile on SciRah

h-index: 17
Works: 38
Citations: 1,724

Most-cited papers

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
S. Kaler, Linda K. Gallo, V. Proud, A. Percy +5 more
1994Nature Genetics259 citations
Semantic Scholar
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
G. Ramantani, J. Kohlhase, C. Hertzberg, A. Innes +22 more
2010Arthritis & Rheumatism216 citations
Semantic Scholar
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
K. Offit, O. Levran, Brian Mullaney, K. Mah +12 more
2003Journal of the National Cancer Institute200 citations Open access
Semantic Scholar
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.
David Monk, Emma L. Wakeling, V. Proud, Megan Hitchins +4 more
1999American Journal of Human Genetics151 citations Open access
Semantic Scholar
Classification of the dysmorphology of pectus excavatum.
Mark J. Cartoski, D. Nuss, M. Goretsky, V. Proud +5 more
2006Journal of Pediatric Surgery129 citations
Semantic Scholar
Further delineation of cardiac abnormalities in Costello syndrome.
A. Lin, P. Grossfeld, R. Hamilton, L. Smoot +10 more
2002American journal of medical genetics111 citations
Semantic Scholar
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
B. Wolf, G. S. Heard, L. Jefferson, V. Proud +2 more
1985New England Journal of Medicine106 citations
Semantic Scholar
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
Stuart W. J. Tompson, C. Bacino, N. Safina, M. Bober +9 more
2010American Journal of Human Genetics83 citations Open access
Semantic Scholar
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.
Laurent Villard, A. Lossi, C. Cardoso, V. Proud +4 more
1997Genomics74 citations
Semantic Scholar
Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses.
S. Wold, C. Derkay, D. Darrow, V. Proud
2010International Journal of Pediatric Otorhinolaryngology58 citations
Semantic Scholar
Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene
K. Kernohan, D. Dyment, M. Pupavac, Zvi Cramer +21 more
2017Human Mutation47 citations Open access
Semantic Scholar
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
W. Surka, J. Kohlhase, C. Neunert, D. Schneider +1 more
2001American journal of medical genetics39 citations
Semantic Scholar
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
L. Vissers, P. Stankiewicz, S. Yatsenko, E. Crawford +10 more
2007Human Genetics37 citations Open access
Semantic Scholar
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
K. Nakabayashi, Bridget A. Fernandez, I. Teshima, C. Shuman +12 more
2002Genomics37 citations
Semantic Scholar
Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia
R. Saul, V. Proud, H. Taylor, J. Leroy +1 more
2005American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
M. Garcia-Barcelo, Man-Ting So, D. Lau, T. Y. Leon +14 more
2006Clinical Chemistry24 citations Open access
Semantic Scholar
Advancing our understanding of the inheritance and transmission of pectus excavatum
L. Horth, M. Stacey, V. Proud, K. Segna +3 more
2012Journal of Pediatric Genetics19 citations Open access
Semantic Scholar
Clinical Comparison of Overlapping Deletions of 19p13.3
Hiba Risheg, Romela M. Pasion, Stephanie J. Sacharow, V. Proud +9 more
2013American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Minimal evidence for a direct involvement of Twisted Gastrulation Homolog 1 (TWSG1) gene in human holoprosencephaly
Emily F. Kauvar, P. Hu, D. Pineda-Alvarez, B. Solomon +10 more
2010Molecular Genetics and Metabolism13 citations Open access
Semantic Scholar
Populist-Nationalism and Foreign Policy: Cultural Diplomacy, International Interaction and Resilience
R. Higgott, V. Proud
201712 citations
Semantic Scholar
Bifid Epiglottis and Polydactyly: A New Genetic Syndrome
J. McClay, B. Wiatrak, V. Proud
1997Otolaryngology Head & Neck Surgery12 citations
Semantic Scholar
Hardikar syndrome: New features
J. Poley, V. Proud
2008American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Hemoglobin Columbia Missouri or α2[88 (F9) Ala→Val]β2: A New High-Oxygen-Affinity Hemoglobin That Causes Erythrocytosis
M. Perry, C. Head, V. Fairbanks, R. A. Jones +2 more
199110 citations
Semantic Scholar
Enzyme Replacement Therapy in the Home Setting for Mucopolysaccharidosis VI: A Survey of Patient Characteristics and Physicians' Early Findings in the United States
C. Tifft, V. Proud, P. Levy, Kristin DeMarco +2 more
2009Journal of Infusion Nursing9 citations
Semantic Scholar
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features
Stephen F. Miller, V. Proud, A. Werner, F. Field +3 more
2003Pediatric Radiology6 citations
Semantic Scholar
Avoiding Transmitting Identified Mutations to Offspring Using Preimplantation Genetic Diagnosis
L. P. Smith, M. Hughes, Ilango Thirumoorthi, V. Proud +1 more
2010Obstetrics and Gynecology5 citations
Semantic Scholar
Biochemical changes in temperature-activated statoblasts of an ectoproct bryozoan
R. E. Black, V. Proud
19765 citations
Semantic Scholar
Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics
R. Alford, T. Friedman, B. Keats, W. Kimberling +6 more
2003Genetics in Medicine4 citations
Semantic Scholar
The Influence of Populism and Nationalism on European International Cultural Relations and Cultural Diplomacy
R. Higgott, V. Proud
2019Cultural Diplomacy in Europe2 citations
Semantic Scholar
A Nationalist Agenda in an EU Context: Implications for Contemporary Culture in Central Europe
V. Proud
2019Cultural Diplomacy in Europe2 citations
Semantic Scholar
Neonatal Upper Airway Obstruction in Osteogenesis Imperfecta: Series of Three Cases and Review of the Literature
Kaalan Johnson, M. Pineda, D. Darrow, V. Proud +1 more
2008Annals of Otology, Rhinology and Laryngology2 citations
Semantic Scholar
Hemoglobin Columbia Missouri or alpha 2[88 (F9) Ala----Val]beta 2: a new high-oxygen-affinity hemoglobin that causes erythrocytosis.
M. Perry, C. Head, V. Fairbanks, R. Jones +2 more
1991Mayo Clinic proceedings1 citations
Semantic Scholar
The Hunt for Science Diplomacy:Practice and Perceptions in the Horizon2020 Scientific Community. EL-CSID Working Paper Issue 2018/18 • June 2018
V. Proud
20180 citations
Semantic Scholar
Chapter 26 – GENETIC SYNDROMES AND DYSMORPHOLOGY
V. Proud, E. Elias
20090 citations
Semantic Scholar
Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes
R. Saul, H. Taylor, J. Leroy, J. Spranger +1 more
20060 citations
Semantic Scholar
Developing INFOGENETICS: Experience Guiding Primary Care Providers to Access Medical Genetics Information Electronically in Clinic for Patient Care• 729
V. Proud, E. Schmitt, D. Laborde, Gregory Zimonopoulos
1998Pediatric Research0 citations
Semantic Scholar
Message From a Multihandicapped Child
V. Proud
1987Pediatrics0 citations
Semantic Scholar
763 THE CURRICULARIZATION OF McKUSICK: AN INNOVATION IN MEDICAL EDUCATION
J. Bodurtha, J. Townsend, V. Proud, W. Nance +1 more
1985Pediatric Research0 citations
Semantic Scholar

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