Most cited papers in Congenital Ear and Nasal Anomalies
What are the most cited papers in Congenital Ear and Nasal Anomalies?
The most cited paper in Congenital Ear and Nasal Anomalies is "Identification of the Cystic Fibrosis Gene: Genetic Analysis" (Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al., 1989), with 4,164 citations. Next come "Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping" (3,269) and "Cleft lip and palate: understanding genetic and environmental influences" (2,022).
Showing 50 of 100 papers. Every paper with more than 316 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Identification of the Cystic Fibrosis Gene: Genetic Analysis Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science | 8 Sep 1989 | 4,164 |
| 2 | Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem et al. · Science | 8 Sep 1989 | 3,269 |
| 3 | Cleft lip and palate: understanding genetic and environmental influences Michael James Dixon, Mary L. Marazita, Terri H. Beaty et al. · Nature Reviews Genetics | 18 Feb 2011 | 2,022 |
| 4 | Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein Andrea Vortkamp, Kaechoong Lee, Beate Lanske et al. · Science | 2 Aug 1996 | 2,009 |
| 5 | The mechanisms of Hedgehog signalling and its roles in development and disease James Briscoe, Pascal P. Thérond · Nature Reviews Molecular Cell Biology | 30 May 2013 | 1,828 |
| 6 | Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation Benoit St‐Jacques, Matthias Hammerschmidt, Andrew P. McMahon · Genes & Development | 15 Aug 1999 | 1,769 |
| 7 | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, Ronald J C Admiraal et al. · Nature Genetics | 8 Aug 2004 | 1,297 |
| 8 | Hedgehog: functions and mechanisms Markku T Varjosalo, Jussi Taipale · Genes & Development | 15 Sep 2008 | 1,233 |
| 9 | Development and Validation of the Nasal Obstruction Symptom Evaluation (NOSE) Scale1 Michael G. Stewart, David L. Witsell, Timothy L. Smith et al. · Otolaryngology | Feb 2004 | 1,226 |
| 10 | The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis Charis Eng · JAMA | 20 Nov 1996 | 1,046 |
| 11 | Cystic fibrosis genetics: from molecular understanding to clinical application Garry R. Cutting · Nature Reviews Genetics | 18 Nov 2014 | 1,000 |
| 12 | Dual Roles for Patched in Sequestering and Transducing Hedgehog Yu Chen, Gary Struhl · Cell | Nov 1996 | 917 |
| 13 | Role of TBX1 in human del22q11.2 syndrome Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet | Oct 2003 | 888 |
| 14 | The EUROclass trial: defining subgroups in common variable immunodeficiency Claudia Wehr et al. · Blood | 26 Sep 2007 | 871 |
| 15 | Biochemical evidence that Patched is the Hedgehog receptor Valeria Marigo, Robert A. Davey, Yi Zuo et al. · Nature | Nov 1996 | 866 |
| 16 | Teratogen-Mediated Inhibition of Target Tissue Response to Shh Signaling Michael K. Cooper, Jeffery A. Porter, Keith E. Young et al. · Science | 5 Jun 1998 | 854 |
| 17 | Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association Roberta A Pagon, John M. Graham, Jonathan Zonana et al. · The Journal of Pediatrics | Aug 1981 | 847 |
| 18 | Practice parameter: Evaluation of the child with global developmental delay [RETIRED] Michael Israel Shevell, Stephen Ashwal, Dorothy E. Donley et al. · Neurology | 11 Feb 2003 | 834 |
| 19 | Cystic fibrosis: molecular biology and therapeutic implications FS Collins · Science | 8 May 1992 | 820 |
| 20 | Function of the retinoic acid receptors (RARs) during development: (I) Craniofacial and skeletal abnormalities in RAR double mutants David Lohnes, Manuel Mark, Cathy Lee Mendelsohn et al. · Development | Oct 1994 | 775 |
| 21 | Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis Natasha J. Caplen, Eric W.F.W. Alton, Peter G. Mddleton et al. · Nature Medicine | 1995 | 710 |
| 22 | Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux Phaikasame Sanyanusin, Lisa A. Schimmenti, Leslie A. McNoe et al. · Nature Genetics | Apr 1995 | 669 |
| 23 | A New Classification for Cochleovestibular Malformations Levent Sennaroğlu, Işıl Saatçi · The Laryngoscope | Dec 2002 | 662 |
| 24 | CHD7 cooperates with PBAF to control multipotent neural crest formation Ruchi Bajpai, Denise A. Chen, Álvaro Rada-Iglesias et al. · Nature | Feb 2010 | 637 |
| 25 | Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Marwan S. Shinawi et al. · Journal of Medical Genetics | 12 Nov 2009 | 608 |
| 26 | Genetics of cleft lip and cleft palate Elizabeth J. Leslie, Mary L. Marazita · American Journal of Medical Genetics Part C Seminars in Medical Genetics | 4 Oct 2013 | 587 |
| 27 | Interferon Regulatory Factor 6 ( IRF6 ) Gene Variants and the Risk of Isolated Cleft Lip or Palate Theresa M. Zucchero et al. · New England Journal of Medicine | 18 Aug 2004 | 585 |
| 28 | Cowden's Disease Kenneth M. Lloyd, MACEY DENNIS · Annals of Internal Medicine | 1963 | 579 |
| 29 | A Controlled Study of Adenoviral-Vector–Mediated Gene Transfer in the Nasal Epithelium of Patients with Cystic Fibrosis Michael R. Knowles, Kathy Hohneker, Zhaoqing Zhou et al. · New England Journal of Medicine | 28 Sep 1995 | 567 |
| 30 | Curcumin, a Major Constituent of Turmeric, Corrects Cystic Fibrosis Defects Marie E. Egan, Marilyn Pearson, Scott A. Weiner et al. · Science | 22 Apr 2004 | 567 |
| 31 | Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Julian Zielenski, Richard F. Rozmahel, Dominique Bozon et al. · Genomics | May 1991 | 552 |
| 32 | Mutations in SOX2 cause anophthalmia Judy A. Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics | 3 Mar 2003 | 547 |
| 33 | Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut Drucilla Jane Roberts, Randy L. Johnson, Ann C. Burke et al. · Development | Oct 1995 | 536 |
| 34 | Cholesterol Modification of Sonic Hedgehog Is Required for Long-Range Signaling Activity and Effective Modulation of Signaling by Ptc1 Paula M. Lewis, Matthew P. Dunn, Jill A. McMahon et al. · Cell | Jun 2001 | 522 |
| 35 | GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome Seongman Kang, John M. Graham, Ann Haskins Olney et al. · Nature Genetics | Mar 1997 | 515 |
| 36 | DiGeorge syndrome: part of CATCH 22. David I. Wilson, John Burn, Peter James Scambler et al. · Journal of Medical Genetics | Oct 1993 | 511 |
| 37 | Prophylactic intravenous indomethacin for preventing mortality and morbidity in preterm infants Peter W Fowlie, Peter Graham Davis, William Leo McGuire · Cochrane Database of Systematic Reviews | 30 Jun 2010 | 484 |
| 38 | Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 Stefanie Birnbaum et al. · Nature Genetics | 8 Mar 2009 | 483 |
| 39 | Dependence of Thymus Development on Derivatives of the Neural Crest Dale E. Bockman, Margaret Loewy Kirby · Science | 3 Feb 1984 | 471 |
| 40 | CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene M.C.J. Jongmans, Ronald J C Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics | 9 Sep 2005 | 468 |
| 41 | Management of Alarming Hemangiomas in Infancy: A Review of 25 Cases Odile Enjolras, Marie Claire Riche, Jean Jacques Merland et al. · PEDIATRICS | Apr 1990 | 464 |
| 42 | Laboratory standards and guidelines for population-based cystic fibrosis carrier screening Wayne W. Grody, Garry R. Cutting, Katherine Wood Klinger et al. · Genetics in Medicine | Mar 2001 | 461 |
| 43 | CHARGE Association: An Update and Review for the Primary Pediatrician KIM D. BLAKE, Sandra L. H. Davenport, Bryan D. Hall et al. · Clinical Pediatrics | Mar 1998 | 459 |
| 44 | Microtia: Epidemiology and genetics Daniela V. Luquetti, Carrie L. Heike, Anne V Hing et al. · American Journal of Medical Genetics Part A | 21 Nov 2011 | 454 |
| 45 | Interactions and fates of avian craniofacial mesenchyme Drew M. Noden · Development | Sep 1988 | 447 |
| 46 | Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients* Sophie Georgin‐Lavialle et al. · British Journal of Dermatology | 11 Oct 2021 | 434 |
| 47 | Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering et al. · The American Journal of Human Genetics | 13 Mar 2007 | 434 |
| 48 | Velo‐cardio‐facial syndrome: A review of 120 patients Rosalie B. Goldberg, Beth Motzkin, Robert Marion et al. · American Journal of Medical Genetics | Feb 1993 | 432 |
| 49 | The Hedgehog Signal Transduction Network David J. Robbins, Dennis Liang Fei, Natalia A. Riobo · Science Signaling | 16 Oct 2012 | 430 |
| 50 | Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts Philip Stanier · Human Molecular Genetics | 13 Jan 2004 | 426 |
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.