Leaderboards/Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Adrianna K. San Roman
Duke University
2
Carrie Zhu
The University of Texas at Austin
3
Mette Viuff
Aarhus University Hospital
4
Katharine A. Hubert
University of Wisconsin–Madison
5
Margaret Gadek
University of Chicago
6
Rui-Hai Gan
Institute of Hydrobiology
7
Carol Moraga
University of O'Higgins
8
Rachel Fieldhouse
NatureServe
9
Barbora Augstenová
Vrije Universiteit Brussel
10
Manon S. Oud
Radboud University Nijmegen

Papers

1
Publication in Andrology (2024) [16 citations, W4401846191]
Andrology|2024
16 cit.
2
Publication in Molecular Biology and Evolution (2026) [1 citation, W7131622349]
Molecular Biology and Evolution|2026
1 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Montserrat C. Anguera
University of Pennsylvania
2
Meritxell Oliva
University of Geneva
3
Manuel Muñoz-Aguirre
Barcelona Institute of Science and Technology
4
William Isaacs
Johns Hopkins University
5
Roser Vento‐Tormo
Wellcome/MRC Cambridge Stem Cell Institute
6
Michail Rovatsos
Charles University
7
Danielle M. Maatouk
Northwestern University
8
Zhi Zhou
Inner Mongolia Autonomous Region Hospital of Traditional Chinese Medicine
9
Zheng Li
Shanghai Jiao Tong University
10
Guo N. Huang
University of California, San Francisco

Papers

1
Single-cell roadmap of human gonadal development
Nature|2022
485 cit.
2
Spatial multiomics map of trophoblast development in early pregnancy
Nature|2023
292 cit.
3
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits
Nature Genetics|2022
190 cit.
4
An integrated single-cell reference atlas of the human endometrium
Nature Genetics|2024
144 cit.
5
Single-cell transcriptome atlas of the human corpus cavernosum
Nature Communications|2022
79 cit.
6
Robust temporal map of human in vitro myelopoiesis using single-cell genomics
Nature Communications|2022
44 cit.
7
Impaired dynamic X-chromosome inactivation maintenance in T cells is a feature of spontaneous murine SLE that is exacerbated in female-biased models
Journal of Autoimmunity|2023
28 cit.
8
Targeting dysregulated phago-/auto-lysosomes in Sertoli cells to ameliorate late-onset hypogonadism
Nature Aging|2024
28 cit.
9
Acute response to pathogens in the early human placenta at single-cell resolution
Cell Systems|2024
17 cit.
10
Unusual X chromosome inactivation maintenance in female alveolar type 2 cells is correlated with increased numbers of X-linked escape genes and sex-biased gene expression
Stem Cell Reports|2023
15 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Yoshitaka Nagahama
National Institute for Basic Biology
2
Robin Lovell‐Badge
The Francis Crick Institute
3
David C. Page
Howard Hughes Medical Institute
4
David C. Page
Howard Hughes Medical Institute
5
Édith Heard
Collège de France
6
Jeannie T. Lee
Harvard University
7
Huntington F. Willard
Geisinger Medical Center
8
Peter Koopman
The University of Queensland
9
Blanche Capel
Duke Medical Center
10
John H. Postlethwait
University of Oregon

Papers

1
Spatial partitioning of the regulatory landscape of the X-inactivation centre
Nature|2012
3.2k cit.
2
Sex determination and sex differentiation in fish: an overview of genetic, physiological, and environmental influences
Aquaculture|2002
2.6k cit.
3
Multipotent cell lineages in early mouse development depend on SOX2 function
Genes & Development|2003
2.4k cit.
4
Male development of chromosomally female mice transgenic for Sry
Nature|1991
2.2k cit.
5
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
Nature|2003
2.2k cit.
6
X-inactivation profile reveals extensive variability in X-linked gene expression in females
Nature|2005
2.1k cit.
7
<i>Stacks</i>: Building and Genotyping Loci <i>De Novo</i> From Short-Read Sequences
G3 Genes Genomes Genetics|2011
2k cit.
8
Zebrafish <i>hox</i> Clusters and Vertebrate Genome Evolution
Science|1998
1.8k cit.
9
A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes
Nature|1990
1.7k cit.
10
Polycomb Proteins Targeted by a Short Repeat RNA to the Mouse X Chromosome
Science|2008
1.6k cit.

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