The Phenolyzer Suite: Prioritizing the Candidate Genes Involved in Microtia

Congenital Auricular Malformations: Description of Anomalies and Syndromes

(2015) Sylva Bartel-Friedrich   FACIAL PLASTIC SURGERY

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

(2015) Hui Yang et al.   NATURE METHODS

Meier-Gorlin syndrome

(2015) Sonja A. de Munnik et al.   Orphanet Journal of Rare Diseases

The genetics of auricular development and malformation: New findings in model systems driving future directions for microtia research

(2014) Timothy C. Cox et al.   European Journal of Medical Genetics

CHARGE syndrome: A review

(2014) Peter Hsu et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

HOXA2Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

(2013) Kerry K. Brown et al.   HUMAN MUTATION

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

(2012) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Epidemiologic features and clinical subgroups of anotia/microtia in Texas

(2009) Mark A. Canfield et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family

(2008) Fatemeh Alasti et al.   AMERICAN JOURNAL OF HUMAN GENETICS