P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

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

(2016) Monkol Lek et al.   NATURE

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

(2015) Frank Rauch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The neuromuscular differential diagnosis of joint hypermobility

(2015) S. Donkervoort et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia

(2015) Hui Guo et al.   GENETICS IN MEDICINE

Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I

(2015) Ellinoora Aro et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

The Structural Motifs for Substrate Binding and Dimerization of the α Subunit of Collagen Prolyl 4-Hydroxylase

(2013) Jothi Anantharajan et al.   STRUCTURE

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

(2013) Rebekah Jobling et al.   Current Rheumatology Reports

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

(2012) Jamie K. Teer et al.   BIOINFORMATICS

The collagen VI-related myopathies: muscle meets its matrix

(2011) Carsten G. Bönnemann   Nature Reviews Neurology

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

(2009) Munis Dündar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stringency of the 2-His–1-Asp Active-Site Motif in Prolyl 4-Hydroxylase

(2009) Kelly L. Gorres et al.   PLoS One

A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

(2008) Antti M. Salo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI)

(2008) Uluç Yiş et al.   NEUROMUSCULAR DISORDERS