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Most cited papers in Sexual Differentiation and Disorders

Sexual Differentiation and Disorders

What are the most cited papers in Sexual Differentiation and Disorders?

The most cited paper in Sexual Differentiation and Disorders is "Variations in the Pattern of Pubertal Changes in Boys" (William A. Marshall, J. M. Tanner, 1970), with 5,218 citations. Next come "A Critical Evaluation of Simple Methods for the Estimation of Free Testosterone in Serum" (3,751) and "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif" (3,286).

Showing 50 of 99 papers. Every paper with more than 780 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Variations in the Pattern of Pubertal Changes in Boys William A. Marshall, J. M. Tanner · Archives of Disease in Childhood Open access Feb 1970 5,218
2 A Critical Evaluation of Simple Methods for the Estimation of Free Testosterone in Serum Alex T. Vermeulen, L. Verdonck, Jean‐Marc Kaufman · The Journal of Clinical Endocrinology & Metabolism Oct 1999 3,751
3 A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif Andrew Henrik Sinclair, Philippe Berta, Mark S. Palmer et al. · Nature Jul 1990 3,286
4 Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. J. M. Tanner, R. H. Whitehouse · Archives of Disease in Childhood Open access Mar 1976 3,179
5 Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7 Eli Coleman et al. · International Journal of Transgenderism Aug 2012 3,164
6 The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders Walter L. Miller, Richard Joseph Auchus · Endocrine Reviews Open access Feb 2011 2,485
7 Consensus Statement on Management of Intersex Disorders Peter A. Lee, Christopher P. Houk, S. Faisal Ahmed et al. · PEDIATRICS Aug 2006 2,327
8 Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: An Endocrine Society* Clinical Practice Guideline Wylie C. Hembree, Peggy T. Cohen‐Kettenis, Louis J. Gooren et al. · The Journal of Clinical Endocrinology & Metabolism Open access 13 Sep 2017 2,309
9 Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects: Opinion N E Skakkebæk, Ewa Rajpert‐De Meyts, Katharina Maria Main · Human Reproduction May 2001 2,271
10 Male development of chromosomally female mice transgenic for Sry Peter A. Koopman, John Gubbay, Nigel Vivian et al. · Nature May 1991 2,242
11 PATTERN OF MALFORMATION IN OFFSPRING OF CHRONIC ALCOHOLIC MOTHERS KennethL. Jones, DavidW. Smith, ChristyN. Ulleland et al. · The Lancet Jun 1973 2,206
12 X-inactivation profile reveals extensive variability in X-linked gene expression in females Laura Carrel, Huntington F. Willard · Nature Mar 2005 2,173
13 Testosterone Therapy in Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice Guideline Shalender Bhasin, Glenn R. Cunningham, Frances J. Hayes et al. · The Journal of Clinical Endocrinology & Metabolism Jun 2010 1,962
14 ORGANIZING ACTION OF PRENATALLY ADMINISTERED TESTOSTERONE PROPIONATE ON THE TISSUES MEDIATING MATING BEHAVIOR IN THE FEMALE GUINEA PIG 1 Charles H. Phoenix, Robert W. Goy, Arnold A. Gerall et al. · Endocrinology Sep 1959 1,943
15 Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Dennis B. Lubahn, Jeffrey S. Moyer, THOMAS S. GOLDING et al. · Proceedings of the National Academy of Sciences Open access Dec 1993 1,861
16 Age Trends in the Level of Serum Testosterone and Other Hormones in Middle-Aged Men: Longitudinal Results from the Massachusetts Male Aging Study Henry A. Feldman, Christopher Longcope, Carol A. Derby et al. · The Journal of Clinical Endocrinology & Metabolism Feb 2002 1,809
17 Overview of Steroidogenic Enzymes in the Pathway from Cholesterol to Active Steroid Hormones Anita H. Payne, Dale Buchanan Hales · Endocrine Reviews Dec 2004 1,765
18 Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline Stefan Richard Bornstein, Bruno Allolio, Wiebke Arlt et al. · The Journal of Clinical Endocrinology & Metabolism Open access 13 Jan 2016 1,758
19 Secondary Sexual Characteristics and Menses in Young Girls Seen in Office Practice: A Study from the Pediatric Research in Office Settings Network Marcia E. Herman‐Giddens, Eric J. Slora, Richard C. Wasserman et al. · PEDIATRICS Apr 1997 1,747
20 Testosterone Therapy in Men With Hypogonadism: An Endocrine Society* Clinical Practice Guideline Shalender Bhasin, Juan Pablo Brito, Glenn R. Cunningham et al. · The Journal of Clinical Endocrinology & Metabolism 17 Mar 2018 1,718
21 A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes John Gubbay, Jérôme Collignon, Peter A. Koopman et al. · Nature Jul 1990 1,691
22 A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation Xunrong Luo, Yayoi Ikeda, Keith L. Parker · Cell May 1994 1,660
23 Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 Thomas Wagner, Jutta Wirth, Jobst Meyer et al. · Cell Dec 1994 1,632
24 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene Jamie W. Foster, Marina A. Dominguez-Steglich, Silvana Guioli et al. · Nature Dec 1994 1,621
25 Completion of mouse embryogenesis requires both the maternal and paternal genomes James M. McGrath, Davor Solter · Cell Open access May 1984 1,575
26 Persistent DDT metabolite p,p'–DDE is a potent androgen receptor antagonist WILLIAM R. KELCE, Christy R. Stone, Susan C. Laws et al. · Nature Jun 1995 1,547
27 Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline Phyllis Speiser, Ricardo Azziz, Laurence S. Baskin et al. · The Journal of Clinical Endocrinology & Metabolism Open access Sep 2010 1,484
28 The ratio of 2nd to 4th digit length: a predictor of sperm numbers and concentrations of testosterone, luteinizing hormone and oestrogen John T. Manning, Diane Scutt, Jimmy A. Wilson et al. · Human Reproduction Open access Nov 1998 1,479
29 Androgen Receptor Defects: Historical, Clinical, and Molecular Perspectives* Charmian A. Quigley, Alessandra De Bellis, Keith B. Marschke et al. · Endocrine Reviews Jun 1995 1,466
30 Fixation of Ejaculated Spermatozoa for Electron Microscopy Mario Stefanini, Cesare De Martino, Luciano Zamboni · Nature Oct 1967 1,463
31 Consensus statement on management of intersex disorders Ieuan A. Hughes · Archives of Disease in Childhood Open access 14 Jun 2005 1,426
32 Congenital Adrenal Hyperplasia Phyllis Speiser, Perrin C. White · New England Journal of Medicine 26 Nov 1987 1,417
33 Molecular Biology of Steroid Hormone Synthesis* Walter L. Miller · Endocrine Reviews Aug 1988 1,410
34 A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME) Charles Edmund Ford · The Lancet Apr 1959 1,363
35 Sexual dimorphism of brain developmental trajectories during childhood and adolescence Rhoshel Lenroot, Nitin Gogtay, DEANNA K. GREENSTEIN et al. · NeuroImage Open access 7 Apr 2007 1,347
36 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. A Morishima, Melvin M. Grumbach, E R Simpson et al. · The Journal of Clinical Endocrinology & Metabolism Dec 1995 1,335
37 Sex Determination: Why So Many Ways of Doing It? Doris Bachtrog, Judith E. Mank, Catherine L. Peichel et al. · PLoS Biology Open access Jul 2014 1,329
38 Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 Peter H. VOGT · Human Molecular Genetics Jul 1996 1,319
39 Female development in mammals is regulated by Wnt-4 signalling Seppo Juhani Vainio, Minna M. Heikkilä, Andreas Kispert et al. · Nature Feb 1999 1,299
40 Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care Peter A. Lee, Anna Nordenström, Christopher P. Houk et al. · Hormone Research in Paediatrics Open access 2016 1,285
41 Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism Julianne Imperato‐McGinley, Luis Guerrero, Teófilo Gautier et al. · Science 27 Dec 1974 1,270
42 Male infertility Ashok Kumar Agarwal, Saradha Baskaran, Neel V. Parekh et al. · The Lancet 10 Dec 2020 1,269
43 Mutation of the Androgen-Receptor Gene in Metastatic Androgen-Independent Prostate Cancer Mary‐Ellen Taplin, Glenn J. Bubley, Todd D. Shuster et al. · New England Journal of Medicine Open access 25 May 1995 1,262
44 Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency* Perrin C. White, Phyllis Speiser · Endocrine Reviews Jun 2000 1,257
45 Proliferation and functional maturation of Sertoli cells, and their relevance to disorders of testis function in adulthood RM Sharpe, Chris McKinnell, C Kivlin et al. · Reproduction Jun 2003 1,249
46 Normal genetically mosaic mice produced from malignant teratocarcinoma cells. Beatrice Mintz, Karl Illmensee · Proceedings of the National Academy of Sciences Open access Sep 1975 1,185
47 Primary Ovarian Insufficiency Lawrence M. Nelson · New England Journal of Medicine Open access 4 Feb 2009 1,182
48 Utility, Limitations, and Pitfalls in Measuring Testosterone: An Endocrine Society Position Statement William Rosner, Richard Joseph Auchus, Ricardo Azziz et al. · The Journal of Clinical Endocrinology & Metabolism Open access 7 Nov 2006 1,175
49 Effect of Testosterone and Estradiol in a Man with Aromatase Deficiency Cesare Carani, Kenan Qin, Manuela Simoni et al. · New England Journal of Medicine Open access 10 Jul 1997 1,159
50 Androgen Excess in Women: Experience with Over 1000 Consecutive Patients Ricardo Azziz, Luis Antonio Heredia Sánchez, Eric S. Knochenhauer et al. · The Journal of Clinical Endocrinology & Metabolism Feb 2004 1,145

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.