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Genomic approaches for studying craniofacial disorders


  • Kriti D. Khandelwal,

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    • Kriti Khandelwal is a Doctoral student in the Department of Orthodontics and Craniofacial Biology. Her current work focuses on elucidation of novel genetics mechanisms underlying Cleft Lip/Palate.
  • Hans van Bokhoven,

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    • Hans van Bokhoven is Professor in Molecular Neurogenetics. He studies the genetic and molecular mechanisms in neurodevelopmental disorders with an emphasis on disorders involving epigenetic deregulation. In addition he has a long standing interest in developmental disorders that involve transcriptional deregulation, in particular disorders involving the TP63 gene.
  • Tony Roscioli,

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    • Tony Roscioli is a clinical geneticist with an interest in craniofacial, immunodeficiency and neuronal migration disorders, and the application of clinical genomics to gene identification and patient care.
  • Carine E.L. Carels,

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    • Carine Carels is Professor of Orthodontics with a special interest in craniofacial and dental developmental disorders. Her research focus is primarily on the genetic, genomic, and epigenetic unraveling of etiological mechanisms underlying orofacial clefts and hypodontia. This way she hopes to ultimately contribute to find clues for preventive strategies, especially for orofacial clefting.
  • Huiqing Zhou

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    • Huiqing Zhou is Assistant Professor of Molecular Developmental Biology at Radboud University Nijmegen and of Human Genetics at Radboud University Nijmegen Medical Center. Her research interest is genetic and epigenetic mechanism of developmental disorders, with a focus on p63-related ectodermal diseases.

Correspondence to: Huiqing Zhou, Department of Molecular Developmental Biology, Radboud University Nijmegen, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen Centre for Molecular Life Sciences, Geert Grooteplein 26/28, 6525GA Nijmegen, The Netherlands.


Co-correspondence to: Carine E.L. Carels, Department of Orthodontics and Craniofacial Biology, College of Dentistry, Radboud University Medical Centre, Philips van Leydenlaan 25, 6525 EX Nijmegen, The Netherlands.



Fast developing technologies in genomics have driven genetic studies of human diseases from classical candidate approaches toward hypothesis-free and genome-wide screening methods. Compared to the low-resolution cytogenetic techniques that were the only available methods to visualize genomic changes at the chromosomal level until some 15 years ago, genome-wide studies including analyses of copy number variation (CNV), genome-wide association and linkage studies, and exome sequencing (ES) provide more accurate information for unraveling the genetic causes of diseases. Moreover, genome sequencing (GS) which interrogates the genome of a single individual at the nucleotide resolution has also been applied in genetic studies. Here we review genomic approaches in craniofacial disorders, with the emphasis on orofacial clefts, and discuss the applications, advantages, limitations, challenges, and future perspectives. © 2013 Wiley Periodicals, Inc.