Genetics of the human face: Identification of large-effect single gene variants

Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping

(2017) Dimosthenis Tsagkrasoulis et al.   Scientific Reports

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

(2016) Kaustubh Adhikari et al.   Nature Communications

The fine-scale genetic structure of the British population

(2015) Stephen Leslie et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Cellular Zinc Levels Are Modulated by TRPML1-TMEM163 Interaction

(2014) Math P. Cuajungco et al.   TRAFFIC

Statistical Properties of Single-Marker Tests for Rare Variants

(2014) T. Bernard Bigdeli et al.   Twin Research and Human Genetics

Modeling 3D Facial Shape from DNA

(2014) Peter Claes et al.   PLoS Genetics

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV

(2013) Anna Benini et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position

(2012) Lavinia Paternoster et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

(2012) Cha Gon Lee et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

(2012) Fan Liu et al.   PLoS Genetics

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population

(2011) Bruce Winney et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mucolipidosis type IV: An update

(2011) Kazuyo Wakabayashi et al.   MOLECULAR GENETICS AND METABOLISM

Zinc Dyshomeostasis Is Linked with the Loss of Mucolipidosis IV-associated TRPML1 Ion Channel

(2010) Jonathan L. Eichelsdoerfer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

(2010) Amy Strange et al.   NATURE GENETICS

A Variant Form of Mucolipidosis IV: Report on 4 Patients From the Indian Subcontinent

(2008) Parayil Sankaran Bindu et al.   JOURNAL OF CHILD NEUROLOGY