The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

UniProt: the universal protein knowledgebase

(2018) The UniProt Consortium   NUCLEIC ACIDS RESEARCH

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

(2018) Katta M. Girisha et al.   HUMAN MUTATION

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

(2017) Peter J. Freeman et al.   HUMAN MUTATION

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

(2017) Michel Satya Naslavsky et al.   HUMAN MUTATION

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

(2016) Monkol Lek et al.   NATURE

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

(2015) Kevin A. Strauss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

(2015) Esra Dikoglu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

(2015) Beryl Royer-Bertrand et al.   Scientific Reports

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

(2014) Julie Hoover-Fong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Role of Phosphatidylethanolamine in the Biogenesis of Mitochondrial Outer Membrane Proteins

(2013) Thomas Becker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

(2013) Sérgio B Sousa et al.   NATURE GENETICS

Import of phosphatidylserine to and export of phosphatidylethanolamine molecular species from mitochondria

(2012) Ville Kainu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Phosphatidylethanolamine Deficiency in Mammalian Mitochondria Impairs Oxidative Phosphorylation and Alters Mitochondrial Morphology

(2012) Guergana Tasseva et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phosphatidylserine Decarboxylase 1 (Psd1) Promotes Mitochondrial Fusion by Regulating the Biophysical Properties of the Mitochondrial Membrane and Alternative Topogenesis of Mitochondrial Genome Maintenance Protein 1 (Mgm1)

(2012) Eliana Y. L. Chan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH