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Most cited papers in Craniofacial Disorders and Treatments

Craniofacial Disorders and Treatments

What are the most cited papers in Craniofacial Disorders and Treatments?

The most cited paper in Craniofacial Disorders and Treatments is "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy" (Richard S. Finkel et al., 2017), with 2,357 citations. Next come "Cleft lip and palate: understanding genetic and environmental influences" (2,022) and "Cleft lip and palate" (1,792).

Showing 50 of 100 papers. Every paper with more than 412 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy Richard S. Finkel et al. · New England Journal of Medicine Open access Nov 2017 2,357
2 Cleft lip and palate: understanding genetic and environmental influences Michael James Dixon, Mary L. Marazita, Terri H. Beaty et al. · Nature Reviews Genetics ReviewOpen access 18 Feb 2011 2,022
3 Cleft lip and palate Peter Anthony Mossey, Julian Little, Ron Munger et al. · The Lancet 10 Sep 2009 1,792
4 Lengthening the Human Mandible by Gradual Distraction Joseph G. McCarthy, Jonathan S. Schreiber, Nolan S. Karp et al. · Plastic & Reconstructive Surgery 1992 1,556
5 Heritable Disorders of Connective Tissue Victor A. McKusick · Postgraduate Medical Journal May 1960 1,534
6 Left-handedness: association with immune disease, migraine, and developmental learning disorder. Norman Geschwind, Peter O. Behan · Proceedings of the National Academy of Sciences Open access Aug 1982 1,178
7 Mutations in the human Sonic Hedgehog gene cause holoprosencephaly Erich Roessler, Elena Belloni, Karin Gaudenz et al. · Nature Genetics Nov 1996 1,167
8 Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study Richard S. Finkel, Claudia A. Chiriboga, Jiri Vajsar et al. · The Lancet Dec 2016 1,043
9 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome Andrew O.M. Wilkie, Sarah F. Slaney, Michael Oldridge et al. · Nature Genetics Feb 1995 945
10 Adipose-derived adult stromal cells heal critical-size mouse calvarial defects Catherine M. Cowan, Yunying Shi, Oliver Aalami et al. · Nature Biotechnology 11 Apr 2004 926
11 FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease David M. Ornitz, Pierre J. Marie · Genes & Development Open access 15 Jun 2002 912
12 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes Shinji Kondo et al. · Nature Genetics Open access 3 Sep 2002 910
13 Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome Elena V. Semina, Rebecca S. Reiter, Nancy J. Leysens et al. · Nature Genetics Dec 1996 890
14 Anatomical classification of facial, cranio-facial and latero-facial clefts Paul L. Tessier · Journal of Maxillofacial Surgery 1976 889
15 The primary role of functional matrices in facial growth Melvin L. Moss, Letty Salentijn · American Journal of Orthodontics Jun 1969 824
16 Effect of Mode of Delivery in Nulliparous Women on Neonatal Intracranial Injury Dena Towner, Mary Ames Castro, Elaine M. Eby-Wilkens et al. · New England Journal of Medicine 2 Dec 1999 812
17 Tissue Origins and Interactions in the Mammalian Skull Vault Xiaobing Jiang, Sachiko Iseki, Robert E. Maxson et al. · Developmental Biology Open access 2002 798
18 Gene/environment causes of cleft lip and/or palate JC Murray · Clinical Genetics Apr 2002 795
19 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome William Reardon, Robin M. Winter, Paul Rutland et al. · Nature Genetics Sep 1994 770
20 Which hard tissue augmentation techniques are the most successful in furnishing bony support for implant placement? Tara L Aghaloo, Peter Karyen Moy · PubMed 2007 757
21 Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation Ichiro Satokata, Liang Ma, Hayato Ohshima et al. · Nature Genetics Apr 2000 745
22 Bone Augmentation Techniques Bradley S. McAllister, Kamran Haghighat · Journal of Periodontology Mar 2007 734
23 Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation H. L. Park, C. Bai, Kenneth A. Platt et al. · Development 15 Apr 2000 730
24 What's new with the amnesic patient H.M.? Suzanne Corkin · Nature reviews. Neuroscience Review Feb 2002 727
25 Cleft Palate Repair by Double Opposing Z-Plasty Leonard T. Furlow · Plastic & Reconstructive Surgery Dec 1986 702
26 A prospective 15‐year follow‐up study of mandibular fixed prostheses supported by osseointegrated implants. Clinical results and marginal bone loss. Lars W. Lindquist, Gunnar E. Carlsson, Torsten Jemt · Clinical Oral Implants Research Dec 1996 697
27 Mouse Otx2 functions in the formation and patterning of rostral head. Isao Matsuo, Shigeru Kuratani, C. Kimura et al. · Genes & Development Open access Nov 1995 697
28 A Twist Code Determines the Onset of Osteoblast Differentiation Peter Bialek, Britt Kern, Xiangli Yang et al. · Developmental Cell Open access Mar 2004 691
29 Sexual Dimorphism in the Human Corpus Callosum Christine de Lacoste-Utamsing, Ralph L. Holloway · Science 25 Jun 1982 686
30 Rhombencephalic neural crest segmentation is preserved throughout craniofacial ontogeny Georgy Köntges, Andrew Lumsden · Development Open access Oct 1996 685
31 A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis Ethylin Wang Jabs, Ulrich Müller, Xiang Li et al. · Cell Nov 1993 684
32 Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics 1997 659
33 Bone augmentation procedures in implant dentistry. Matteo Chiapasco, Paolo Casentini, Marco Zaniboni · PubMed 2009 658
34 The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain Heather Etchevers, Christine Vincent, Nicole M. Le Douarin et al. · Development Apr 2001 654
35 Cranial sutures as intramembranous bone growth sites Lynne A. Opperman · Developmental Dynamics Open access 2000 652
36 Mutations of the TWIST gene in the Saethre-Chotzene syndrome Vincent El Ghouzzi, Martine Le Merrer, Fabienne Perrin‐Schmitt et al. · Nature Genetics 1997 649
37 Conditional inactivation of FGF receptor 2 reveals an essential role for FGF signaling in the regulation of osteoblast function and bone growth Kai Yu, Jian Xu, Zhonghao Liu et al. · Development Open access 20 May 2003 648
38 Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia Juhee Jeong, Junhao Mao, Toyoaki Tenzen et al. · Genes & Development Open access 15 Apr 2004 645
39 Radiology of the Skull and Brain F W P · Journal of The Royal Naval Medical Service Open access Dec 1979 641
40 Presurgical Nasoalveolar Molding in Infants with Cleft Lip and Palate Barry H. Grayson, Pedro E. Santiago, Lawrence E. Brecht et al. · The Cleft Palate-Craniofacial Journal Nov 1999 625
41 A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics Nov 1994 624
42 A Technique for Cleft Palate Repair Brian C. Sommerlad · Plastic & Reconstructive Surgery Nov 2003 621
43 Recent advances in craniofacial morphogenesis Yang Chai, Robert E. Maxson · Developmental Dynamics 5 May 2006 616
44 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 Patricia L. Tavormina, Rita Shiang, Leslie Michels Thompson et al. · Nature Genetics Mar 1995 608
45 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 Terri H. Beaty et al. · Nature Genetics Open access 2 May 2010 600
46 MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans Marie‐José H. van den Boogaard, Marinus Dorland, Frits A. Beemer et al. · Nature Genetics Apr 2000 589
47 Genetics of cleft lip and cleft palate Elizabeth J. Leslie, Mary L. Marazita · American Journal of Medical Genetics Part C Seminars in Medical Genetics Open access 4 Oct 2013 587
48 Distraction osteogenesis in maxillofacial surgery using internal devices: Review of five cases Martin Chin, Bryant A. Toth · Journal of Oral and Maxillofacial Surgery 1996 569
49 Epidemiology of Oral Clefts 2012: An International Perspective Peter Anthony Mossey, B. Modell · Frontiers of oral physiology/Frontiers of oral biology Book chapter 2012 548
50 The pathogenesis of the first and second branchial arch syndrome David Ernest Poswillo · Oral Surgery Oral Medicine Oral Pathology Mar 1973 541

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.