The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta

Highly accurate protein structure prediction with AlphaFold

(2021) John Jumper et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Mitochondrial Function in Enamel Development

(2020) Veronica Costiniti et al.   Frontiers in Physiology

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

(2020) Xiaoming Liu et al.   Genome Medicine

PubTator central: automated concept annotation for biomedical full text articles

(2019) Chih-Hsuan Wei et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improvements to accessing data

(2019) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Altered Ca 2+ signaling in enamelopathies

(2018) Miriam Eckstein et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Visualization and analysis of non-covalent contacts using the Protein Contacts Atlas

(2018) Melis Kayikci et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Visualization and analysis of non-covalent contacts using the Protein Contacts Atlas

(2018) Melis Kayikci et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

(2017) Claire E. L. Smith et al.   Frontiers in Physiology

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

(2016) Monkol Lek et al.   NATURE

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Simple recessive mutation inENAMis associated with amelogenesis imperfecta in Italian Greyhounds

(2013) Barbara Gandolfi et al.   ANIMAL GENETICS

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

Novel KLK4 and MMP20 Mutations Discovered by Whole-exome Sequencing

(2013) S.-K. Wang et al.   JOURNAL OF DENTAL RESEARCH

Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

(2012) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Amelogenesis imperfecta: an introduction

(2012) K. Gadhia et al.   BRITISH DENTAL JOURNAL

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

(2012) Pablo Cingolani et al.   FLY

Human mitochondrial holocytochromecsynthase’s heme binding, maturation determinants, and complex formation with cytochromec

(2012) Brian San Francisco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

(2011) J. Timothy Wright et al.   CELLS TISSUES ORGANS

Identification of novel candidate genes involved in mineralization of dental enamel by genome-wide transcript profiling

(2011) Rodrigo S. Lacruz et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry

(2010) Blanca Urzúa et al.   BIOCHEMICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

(2009) Walid El-Sayed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)

(2009) Grace M. Hobson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulation of pH During Amelogenesis

(2009) Rodrigo S. Lacruz et al.   CALCIFIED TISSUE INTERNATIONAL

FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta

(2008) Jung-Wook Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS