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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

TopicLeading institutions, researchers & key papers

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities is a topic indexed in ScholarIQ from OpenAlex.

What is known about Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities?

ScholarIQrecord summary

This cluster of papers explores the genetic, physiological, and environmental influences on sex determination and differentiation in various organisms. It covers topics such as X chromosome inactivation, Y chromosome degeneration, gonadal development, sexually dimorphic gene expression, Turner syndrome, SRY gene function, aromatase expression, Wnt signaling pathway, and temperature-dependent sex determination.

How many works does Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities have?

ScholarIQindexed works

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities has 96 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

What is the OpenAlex record for Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities?

ScholarIQopenalex

The OpenAlex for Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities is on the source record.

What are the most-cited papers on Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities?

ScholarIQmost cited works
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
David Skuse, R S James, Dorothy Bishop, Brian Coppin, Pamela Dalton, G. Aamodt-Leeper, M. Bacarese-Hamilton, Cathy Creswell, Rhona McGurk, P. A. Jacobs
Nature. 1997752 CitationsOPEN ACCESS
The impact of sex on gene expression across human tissues
Meritxell Oliva, Manuel Muñoz-Aguirre, Sarah Kim-Hellmuth, Valentin Wucher, Ariel DH Gewirtz, Daniel J. Cotter, Princy Parsana, Silva Kasela, Brunilda Balliu, Ana Viñuela, Stephane E. Castel, Pejman Mohammadi, François Aguet, Yuxin Zou, Ekaterina Khramtsova, Andrew D. Skol, Diego Garrido-Martín, Ferrán Reverter, Andrew Brown, Patrick Evans, Eric R. Gamazon, A. J. Payne, Rodrigo Bonazzola, Alvaro Barbeira, Andrew R. Hamel, Ángel Martínez-Pérez, José Manuel Soria, Brandon L. Pierce, Matthew Stephens, Eleazar Eskin, Emmanouil T. Dermitzakis, Ayellet V. Segrè, Hae Kyung Im, Barbara E. Engelhardt, Kristin Ardlie, Stephen B. Montgomery, Alexis Battle, Tuuli Lappalainen, Roderic Guigó, Barbara E. Stranger, François Aguet, Shankara Anand, Kristin Ardlie, Stacey Gabriel, Gad Getz, Aaron Graubert, Kane Hadley, Robert E. Handsaker, Katherine Huang, Seva Kashin, Xiao Li, Daniel G. MacArthur, Samuel R. Meier, Jared L. Nedzel, Duyen T. Nguyen, Ayellet V. Segrè, Ellen Todres, Brunilda Balliu, Alvaro Barbeira, Alexis Battle, Rodrigo Bonazzola, Andrew Brown, Christopher D. Brown, Stephane E. Castel, Donald F. Conrad, Daniel J. Cotter, Nancy J. Cox, Sayantan Das, Olivia M. de Goede, Emmanouil T. Dermitzakis, Jonah Einson, Barbara E. Engelhardt, Eleazar Eskin, Tiffany Eulalio, Nicole M. Ferraro, Elise D. Flynn, Laure Frésard, Eric R. Gamazon, Diego Garrido-Martín, Nicole R. Gay, Michael J. Gloudemans, Roderic Guigó, Andrew R. Hame, Yuan He, Paul Hoffman, Farhad Hormozdiari, Lei Hou, Hae Kyung Im, Brian Jo, Silva Kasela, Manolis Kellis, Sarah Kim-Hellmuth, Alan Kwong, Tuuli Lappalainen, Xin Li, Yanyu Liang, Serghei Mangul, Pejman Mohammadi, Stephen B. Montgomery, Manuel Muñoz-Aguirre
Science. 2020735 CitationsOPEN ACCESS
<i>Dmrt1</i>, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation
Christopher S. Raymond, Mark W. Murphy, M. Gerard O’Sullivan, Vivian J. Bardwell, David Zarkower
Genes & Development. 2000678 CitationsOPEN ACCESS
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
Valérie Belin, Véronica Cusin, Géraldine Viot, Delphine Girlich, Annick Toutain, Anne Moncla, Michel Vekemans, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire
Nature Genetics. 1998361 Citations
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
On behalf of the Klinefelter ItaliaN Group (KING), Marco Bonomi, Vincenzo Rochira, Daniela Pasquali, Giancarlo Balercia, Emmanuele A. Jannini, Alberto Ferlin
Journal of Endocrinological Investigation. 2016360 CitationsOPEN ACCESS

Where is Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities research published, and who funds it?

ScholarIQvenues & funding sources

TOP FUNDERS

National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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How much of the research on Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities is open access?

ScholarIQopen access share
53%OPEN ACCESS
Gold
13%
Green
13%
Hybrid
13%
Bronze
13%
Closed
47%

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