CCDG: Genetics of Orofacial Clefts and Related Phenotypes

Cleft lip and palate: understanding genetic and environmental influences

M. Dixon, M. Marazita, T. Beaty, et al.. (2011). Nature Reviews Genetics. Cited 1,733 times. https://doi.org/10.1038/nrg2933

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

Terri H. Beaty, J. C. Murray, M. Marazita, et al.. (2010). Nature Genetics. Cited 551 times. https://doi.org/10.1038/ng.580

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

K. Ludwig, E. Mangold, S. Herms, et al.. (2012). Nature Genetics. Cited 340 times. https://doi.org/10.1038/ng.2360

Genetics of cleft lip and cleft palate

E. Leslie, M. Marazita. (2013). American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Cited 257 times. https://doi.org/10.1002/ajmg.c.31381

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

Satoshi Suzuki, M. Marazita, M. Cooper, et al.. (2009). American journal of human genetics. Cited 200 times. https://doi.org/10.1016/j.ajhg.2009.02.002

The evolution of human genetic studies of cleft lip and cleft palate.

M. Marazita. (2012). Annual review of genomics and human genetics. Cited 196 times. https://doi.org/10.1146/annurev-genom-090711-163729

Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palate

T. Beaty, I. Ruczinski, J. C. Murray, et al.. (2011). Genetic Epidemiology. Cited 176 times. https://doi.org/10.1002/gepi.20595

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Lina M. Moreno, M. Mansilla, S. Bullard, et al.. (2009). Human molecular genetics. Cited 157 times. https://doi.org/10.1093/hmg/ddp444

Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

M. Marazita, A. Lidral, J. Murray, et al.. (2009). Human Heredity. Cited 142 times. https://doi.org/10.1159/000224636

Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

T. Beaty, M. Taub, A. F. Scott, et al.. (2013). Human Genetics. Cited 141 times. https://doi.org/10.1007/s00439-013-1283-6

Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics.

Seth M. Weinberg, Sybill D. Naidoo, KM Bardi, et al.. (2009). Orthodontics & craniofacial research. Cited 119 times. https://doi.org/10.1111/j.1601-6343.2009.01462.x

A Qualitative Description of Receiving a Diagnosis of Clefting in the Prenatal or Postnatal Period

Rachel Nusbaum, R. Grubs, J. Losee, et al.. (2008). Journal of Genetic Counseling. Cited 99 times. https://doi.org/10.1007/s10897-008-9152-5

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.

E. Leslie, M. Mansilla, Leah C. Biggs, et al.. (2012). Birth defects research. Part A, Clinical and molecular teratology. Cited 96 times. https://doi.org/10.1002/bdra.23076

Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

A. R. Vieira, T. McHenry, S. Daack-Hirsch, et al.. (2008). Genetics in Medicine. Cited 96 times. https://doi.org/10.1097/GIM.0b013e3181833793

AXIS inhibition protein 2, orofacial clefts and a family history of cancer.

Renato Menezes, M. Marazita, Toby Goldstein McHenry, et al.. (2009). Journal of the American Dental Association. Cited 83 times. https://doi.org/10.14219/JADA.ARCHIVE.2009.0022

Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts

A. Bureau, M. Parker, I. Ruczinski, et al.. (2014). Genetics. Cited 79 times. https://doi.org/10.1534/genetics.114.165225

Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P)

A. Butali, Satoshi Suzuki, M. Cooper, et al.. (2013). American Journal of Medical Genetics Part A. Cited 69 times. https://doi.org/10.1002/ajmg.a.35749

A genome wide linkage scan for cleft lip and palate and dental anomalies

A. R. Vieira, T. McHenry, S. Daack-Hirsch, et al.. (2008). American Journal of Medical Genetics Part A. Cited 62 times. https://doi.org/10.1002/ajmg.a.32295

Three‐dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: A possible marker for genetic susceptibility

S. Weinberg, K. Neiswanger, J. Richtsmeier, et al.. (2008). American Journal of Medical Genetics Part A. Cited 56 times. https://doi.org/10.1002/ajmg.a.32177

Interaction between IRF6 and TGFA Genes Contribute to the Risk of Nonsyndromic Cleft Lip/Palate

A. Letra, W. Fakhouri, Renata F. Fonseca, et al.. (2012). PLoS ONE. Cited 51 times. https://doi.org/10.1371/journal.pone.0045441

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P

S. J. Choi, M. Marazita, P. Hart, et al.. (2009). European Journal of Human Genetics. Cited 50 times. https://doi.org/10.1038/ejhg.2008.245

Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases

S. Weinberg, C. Brandon, Toby H. McHenry, et al.. (2008). American Journal of Medical Genetics Part A. Cited 49 times. https://doi.org/10.1002/ajmg.a.32291

Genome wide study of maternal and parent‐of‐origin effects on the etiology of orofacial clefts

M. Shi, J. C. Murray, M. Marazita, et al.. (2012). American Journal of Medical Genetics Part A. Cited 42 times. https://doi.org/10.1002/ajmg.a.35257

Comparative microanatomy of the orbicularis oris muscle between chimpanzees and humans: evolutionary divergence of lip function

Carolyn R. Rogers, M. Mooney, T. Smith, et al.. (2009). Journal of Anatomy. Cited 41 times. https://doi.org/10.1111/j.1469-7580.2008.01004.x

Exploratory genotype–phenotype correlations of facial form and asymmetry in unaffected relatives of children with non‐syndromic cleft lip and/or palate

S. Miller, S. Weinberg, N. Nidey, et al.. (2014). Journal of Anatomy. Cited 41 times. https://doi.org/10.1111/joa.12182

Rapid Testing of SNPs and Gene–Environment Interactions in Case–Parent Trio Data Based on Exact Analytic Parameter Estimation

H. Schwender, M. Taub, T. Beaty, et al.. (2012). Biometrics. Cited 40 times. https://doi.org/10.1111/j.1541-0420.2011.01713.x

Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations

A. Letra, B. Bjork, M. Cooper, et al.. (2012). Journal of Dental Research. Cited 39 times. https://doi.org/10.1177/0022034512440578

Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate

K. Neiswanger, Kevin W. Chirigos, Cherise M. Klotz, et al.. (2009). American Journal of Medical Genetics Part A. Cited 39 times. https://doi.org/10.1002/ajmg.a.33089

Follow‐up association studies of chromosome region 9q and nonsyndromic cleft lip/palate

A. Letra, Renato Menezes, M. Govil, et al.. (2010). American Journal of Medical Genetics Part A. Cited 35 times. https://doi.org/10.1002/ajmg.a.33482

Evidence of Gene−Environment Interaction for Two Genes on Chromosome 4 and Environmental Tobacco Smoke in Controlling the Risk of Nonsyndromic Cleft Palate

Tao Wu, Tao Wu, H. Schwender, et al.. (2014). PLoS ONE. Cited 35 times. https://doi.org/10.1371/journal.pone.0088088

Anatomical Basis for Apparent Subepithelial Cleft Lip: A Histological and Ultrasonographic Survey of the Orbicularis Oris Muscle

Carolyn R. Rogers, S. Weinberg, T. Smith, et al.. (2008). The Cleft Palate-Craniofacial Journal. Cited 33 times. https://doi.org/10.1597/07-115.1

CRISPLD2 Variants Including a C471T Silent Mutation May Contribute to Nonsyndromic Cleft Lip with or without Cleft Palate

A. Letra, Renato Menezes, M. Cooper, et al.. (2011). The Cleft Palate-Craniofacial Journal. Cited 28 times. https://doi.org/10.1597/09-227

Examining Markers in 8q24 to Explain Differences in Evidence for Association With Cleft Lip With/Without Cleft Palate Between Asians and Europeans

Tanda Murray, M. Taub, I. Ruczinski, et al.. (2012). Genetic Epidemiology. Cited 28 times. https://doi.org/10.1002/gepi.21633

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives

A. Bureau, Samuel G. Younkin, M. Parker, et al.. (2014). Bioinformatics. Cited 28 times. https://doi.org/10.1093/bioinformatics/btu198

Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate

Cherise M. Klotz, Xiaojing Wang, R. DeSensi, et al.. (2010). American Journal of Medical Genetics Part A. Cited 27 times. https://doi.org/10.1002/ajmg.a.33695

Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes

E. Leslie, J. Mancuso, B. Schutte, et al.. (2013). American Journal of Medical Genetics Part A. Cited 27 times. https://doi.org/10.1002/ajmg.a.36133

Novel Cleft Susceptibility Genes in Chromosome 6q

A. Letra, Renato Menezes, Renata F. Fonseca, et al.. (2010). Journal of Dental Research. Cited 24 times. https://doi.org/10.1177/0022034510370004

A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

Samuel G. Younkin, R. Scharpf, H. Schwender, et al.. (2014). BMC Genetics. Cited 22 times. https://doi.org/10.1186/1471-2156-15-24

Practical Considerations for Dividing Data into Subsets Prior to PPL Analysis

M. Govil, V. Vieland. (2008). Human Heredity. Cited 11 times. https://doi.org/10.1159/000143405

X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.

P. Patel, T. Beaty, I. Ruczinski, et al.. (2013). European journal of oral sciences. Cited 11 times. https://doi.org/10.1111/eos.12025

Nasolabial Fold Discontinuity during Speech as a Possible Extended Cleft Phenotype

Karen L. Schmidt, K. Neiswanger, E. Cohn, et al.. (2013). The Cleft Palate-Craniofacial Journal. Cited 2 times. https://doi.org/10.1597/11-103