Topic · Congenital limb and hand anomalies

Most cited papers in Congenital limb and hand anomalies

Congenital limb and hand anomalies

What are the most cited papers in Congenital limb and hand anomalies?

The most cited paper in Congenital limb and hand anomalies is "CLINICAL ASSESSMENT OF BODY HAIR GROWTH IN WOMEN" (DAVID G. FERRIMAN, J. D. GALLWEY, 1961), with 2,522 citations. Next come "Sonic hedgehog mediates the polarizing activity of the ZPA" (2,358) and "Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome" (2,038).

Published TypeAccessAuthorsCitations

Showing 50 of 100 papers. Every paper with more than 316 citations is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	CLINICAL ASSESSMENT OF BODY HAIR GROWTH IN WOMEN DAVID G. FERRIMAN, J. D. GALLWEY · The Journal of Clinical Endocrinology & Metabolism	Nov 1961	2,522
2	Sonic hedgehog mediates the polarizing activity of the ZPA Robert D. Riddle, Randy L. Johnson, Ed Laufer et al. · Cell	Dec 1993	2,358
3	Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome Heidi Hahn et al. · Cell Open access	Jun 1996	2,038
4	Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome Ronald L. Johnson, Alana Rothman, Jingwu Xie et al. · Science	14 Jun 1996	1,868
5	Regulation of the Hedgehog and Wingless signalling pathways by the F-box/WD40-repeat protein Slimb Jin Jiang, Gary Struhl · Nature	1998	1,745
6	HedgehogandBmpGenes Are Coexpressed at Many Diverse Sites of Cell–Cell Interaction in the Mouse Embryo Mark Joseph Bitgood, Andrew P. McMahon · Developmental Biology Open access	Nov 1995	1,387
7	Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP Fred Petrif, Rachel H. Giles, Hans G. Dauwerse et al. · Nature	Jul 1995	1,228
8	A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly Laura A. Lettice · Human Molecular Genetics Open access	Jul 2003	1,212
9	Dorsal differentiation of neural plate cells induced by BMP-mediated signals from epidermal ectoderm Karel F. Liem, Gabi Tremml, Henk Roelink et al. · Cell Open access	Sep 1995	1,079
10	Hedgehog-Regulated Processing of Gli3 Produces an Anterior/Posterior Repressor Gradient in the Developing Vertebrate Limb Baolin Wang, John F. Fallon, Philip A. Beachy · Cell Open access	Feb 2000	1,043
11	Evidence for an Expansion-Based Temporal Shh Gradient in Specifying Vertebrate Digit Identities Brian D. Harfe, Paul Scherz, Sahar Nissim et al. · Cell Open access	Aug 2004	1,020
12	Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease Håvard Skre · Clinical Genetics	Aug 1974	914
13	Analysis of the tendon cell fate using Scleraxis, a specific marker for tendons and ligaments Ronen Schweitzer, Jay H. Chyung, Lewis Charles Murtaugh et al. · Development	Oct 2001	889
14	Floor plate and motor neuron induction by vhh-1, a vertebrate homolog of hedgehog expressed by the notochord Henk Roelink, Adela Augsburger, Jill Heemskerk et al. · Cell Open access	Feb 1994	874
15	Transcription factors: An overview David S. Latchman · The International Journal of Biochemistry & Cell Biology	Dec 1997	845
16	Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud Ed Laufer, Craig E. Nelson, Randy L. Johnson et al. · Cell	Dec 1994	817
17	Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein Pao‐Tien Chuang, Andrew P. McMahon · Nature	Feb 1999	802
18	Dorsalizing signal Wnt-7a required for normal polarity of D–V and A–P axes of mouse limb Brian A. Parr, Andrew P. McMahon · Nature	Mar 1995	732
19	Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog Anthony E. Oro, Kay M. Higgins, Zhilan Hu et al. · Science	2 May 1997	717
20	Nosology and classification of genetic skeletal disorders: 2010 revision Matthew L. Warman, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A Open access	15 Mar 2011	716
21	A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene Chi‐chung Hui, Alexandra L. Joyner · Nature Genetics	Mar 1993	713
22	Sequential roles of Hedgehog and Wnt signaling in osteoblast development Hongliang Hu, Matthew J. Hilton, Xiaolin Tu et al. · Development	3 Dec 2004	680
23	Complications Following Internal Fixation of Unstable Distal Radius Fracture With a Palmar Locking-Plate Rohit Romesh Arora, Martin Lutz, Alfred Hennerbichler et al. · Journal of Orthopaedic Trauma	May 2007	663
24	Prevalence, Incidence, Diagnostic Delay, and Mortality in Turner Syndrome Kirstine Stochholm, Svend Juul, Knud Juel et al. · The Journal of Clinical Endocrinology & Metabolism	18 Jul 2006	661
25	TRISOMY IN MAN Terry J Hassold, Patricia A. Jacobs · Annual Review of Genetics	Dec 1984	655
26	p300/CBP and cancer N. Gopalakrishna Iyer, Hi̇lal Özdağ, Carlos H. Caldas · Oncogene	24 May 2004	648
27	Genetic Analysis of the Roles of BMP2, BMP4, and BMP7 in Limb Patterning and Skeletogenesis Amitabha Bandyopadhyay, Kunikazu Tsuji, Karen A. Cox et al. · PLoS Genetics Open access	2006	635
28	Regulation of tendon differentiation by scleraxis distinguishes force-transmitting tendons from muscle-anchoring tendons Nicholas D. Murchison, Brian A. Price, David A. Conner et al. · Development	14 Jun 2007	619
29	Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity Ying Litingtung, Randall D. Dahn, Yina Li et al. · Nature	Aug 2002	601
30	Patterning of mammalian somites by surface ectoderm and notochord: Evidence for sclerotome induction by a hedgehog homolog Chen‐Ming Fan, Marc Tessier‐Lavigne · Cell	Dec 1994	595
31	A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal Barbara Bardoni, Elena Zanaria, Silvana Guioli et al. · Nature Genetics	Aug 1994	587
32	Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13 Yasuteru Muragaki, Stefan Mundlos, Joseph M. Upton et al. · Science	26 Apr 1996	582
33	Fibroblast growth factors induce additional limb development from the flank of chick embryos Martin J. Cohn, Juan Carlos Izpisúa‐Belmonte, Helen E. Abud et al. · Cell Open access	Mar 1995	581
34	Properties of body segments based on size and weight Wilfrid Taylor Dempster, George R. L. Gaughran · American Journal of Anatomy	1967	576
35	Congenital Curvature of the Phallus: Report of Three Cases with Description of Corrective Operation Reed M. Nesbit · The Journal of Urology	Feb 1965	576
36	Enhancer loops appear stable during development and are associated with paused polymerase Yad Ghavi-Helm, Felix A. Klein, Tibor Pakozdi et al. · Nature Open access	Jul 2014	564
37	Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome Michael J. Bamshad, ROBERT CHUN YU LIN, David Law et al. · Nature Genetics	Jul 1997	546
38	Neural crest origins of the neck and shoulder Toshiyuki Matsuoka, Per Ahlberg, Nicoletta Kessaris et al. · Nature Open access	Jul 2005	545
39	Dynamic Changes in the Response of Cells to Positive Hedgehog Signaling during Mouse Limb Patterning Sohyun Ahn, Alexandra L. Joyner · Cell Open access	Aug 2004	542
40	Limb-somite relationship: origin of the limb musculature Alain Chevallier, M Kieny, Annick Mauger · Development	Oct 1977	534
41	Monozygotic twinning and structural defects Albert Schinzel, David William Smith, James R. Miller · The Journal of Pediatrics	Dec 1979	531
42	A Somitic Compartment of Tendon Progenitors Ava E. Brent, Ronen Schweitzer, Clifford James Tabin · Cell Open access	Apr 2003	530
43	Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired Stephen A. Brown, Dorothy Warburton, Lucia Y. Brown et al. · Nature Genetics	Oct 1998	526
44	The product of hedgehog autoproteolytic cleavage active in local and long-range signalling Jeffery A. Porter, Doris P. von Kessler, Stephen C. Ekker et al. · Nature	Mar 1995	508
45	Mutation of HOXA13 in hand-foot-genital syndrome Douglas P. Mortlock, Jeffrey W. Innis · Nature Genetics	Feb 1997	502
46	Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease Jeroen H. Roelfsema, Stefan J. White, Yavuz Ariyürek et al. · The American Journal of Human Genetics Open access	29 Mar 2005	485
47	Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? Jop H. van Berlo, Willem G. de Voogt, Anneke J. van der Kooi et al. · Journal of Molecular Medicine Review	12 Nov 2004	479
48	Vertebrate limb bud development: moving towards integrative analysis of organogenesis Rolf Zeller, Javier López-Rı́os, Aimée Zúñiga · Nature Reviews Genetics Review	18 Nov 2009	479
49	Triple-Test M. Bidlingmaier · Springer Reference Medizin Book chapter	2019	473
50	Vitamin A and pattern formation in the regenerating limb Malcolm Maden · Nature	Feb 1982	464

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.