Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

TopicLeading institutions, researchers & key papers

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.

Works

IDs:OpenAlex

How has Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities's publication output changed over time?

ScholarIQpublication output · 1998–2024

Output grew0% over the shown period — from 1 works in 1998 to 1 in 2024.

1998200020012002200720092012201620202024

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

S168778273. 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

S137905309. 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

S207799248. 2016360 CitationsOPEN ACCESS