Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

(2018) Zeynep Coban-Akdemir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic expansion illuminates multilocus pathogenic variation

(2018) Ender Karaca et al.   GENETICS IN MEDICINE

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

(2017) N. Dinckan et al.   JOURNAL OF DENTAL RESEARCH

Role of WNT10A in failure of tooth development in humans and zebrafish

(2017) Qiuping Yuan et al.   Molecular Genetics & Genomic Medicine

Mutations in WNT10B Are Identified in Individuals with Oligodontia

(2016) Ping Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel de novo mutation inLAMB3causes localized hypoplastic enamel in the molar region

(2016) Young-Jae Kim et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

(2016) Charlotte W. Ockeloen et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

(2016) Tomasz Gambin et al.   NUCLEIC ACIDS RESEARCH

Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis

(2016) Yun Lu et al.   PLoS One

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

(2016) Alon Peled et al.   PLoS Genetics

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

(2016) Andrew T Timberlake et al.   eLife

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

(2015) Maarten P.G. Massink et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome

(2015) Xin Zhu et al.   GENE

The Gene Network Underlying Hypodontia

(2015) W. Yin et al.   JOURNAL OF DENTAL RESEARCH

GREMLIN 2 Mutations and Dental Anomalies

(2015) P.N. Kantaputra et al.   JOURNAL OF DENTAL RESEARCH

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

(2015) Xin Wang et al.   PLoS One

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

NovelLAMB3mutations cause non-syndromic amelogenesis imperfecta with variable expressivity

(2014) K.-E. Lee et al.   CLINICAL GENETICS

Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population

(2014) H.C. Liu et al.   GENETICS AND MOLECULAR RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

WNT10Amutations also associated with agenesis of the maxillary permanent canines, a separate entity

(2013) P. Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

(2013) James A Poulter et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

WNT10A variants are associated with non-syndromic tooth agenesis in the general population

(2013) Shujuan Song et al.   HUMAN GENETICS

LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta

(2013) J.W. Kim et al.   JOURNAL OF DENTAL RESEARCH

Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations

(2013) Sirpa Arte et al.   PLoS One

Laminin 332 in junctional epidermolysis bullosa

(2013) Dimitra Kiritsi et al.   Cell Adhesion & Migration

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

(2012) Sedigheh Delmaghani et al.   HUMAN MOLECULAR GENETICS

Mutations inWNT10Aare present in more than half of isolated hypodontia cases

(2012) Marie-José van den Boogaard et al.   JOURNAL OF MEDICAL GENETICS

WNT10A and isolated hypodontia

(2011) Piranit Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

(2011) Birgitta Bergendal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Notch signalling pathway in tooth development and adult dental cells

(2011) X. Cai et al.   CELL PROLIFERATION

The Pfam protein families database

(2011) M. Punta et al.   NUCLEIC ACIDS RESEARCH

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

Function analysis of mesenchymal Bcor in tooth development by using RNA interference

(2010) Jinglei Cai et al.   CELL AND TISSUE RESEARCH

Notch signalling is required for the survival of epithelial stem cells in the continuously growing mouse incisor

(2010) Szabolcs Felszeghy et al.   DIFFERENTIATION

Frequency and characteristics of tooth agenesis among an orthodontic patient population

(2010) M. Celikoglu et al.   Medicina Oral Patologia Oral y Cirugia Bucal

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

(2009) Axel Bohring et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

(2009) S Ben-Shachar et al.   CLINICAL GENETICS

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies and cardiac laterality defects

(2009) Emma Hilton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

BCOR regulates mesenchymal stem cell function by epigenetic mechanisms

(2009) Zhipeng Fan et al.   NATURE CELL BIOLOGY