Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

(2018) Víctor Faundes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling

(2018) Kevin E. Glinton et al.   MOLECULAR GENETICS AND METABOLISM

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

(2018) C.R. Ferreira et al.   MOLECULAR GENETICS AND METABOLISM

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

(2018) Katherine L. Helbig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Human disorders of peroxisome metabolism and biogenesis

(2016) Hans R. Waterham et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

(2016) Christian de Goede et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios

(2016) Katharina Herzog et al.   JOURNAL OF LIPID RESEARCH

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Analysis of the Human Adult Urinary Metabolome Variations with Age, Body Mass Index, and Gender by Implementing a Comprehensive Workflow for Univariate and OPLS Statistical Analyses

(2015) Etienne A. Thévenot et al.   JOURNAL OF PROTEOME RESEARCH

The Lowe Syndrome Protein OCRL1 Is Required for Endocytosis in the Zebrafish Pronephric Tubule

(2015) Francesca Oltrabella et al.   PLoS Genetics

A novel murine CTP:phosphoethanolamine cytidylyltransferase splice variant is a post-translational repressor and an indicator that both cytidylyltransferase domains are required for activity

(2014) Zvezdan Pavlovic et al.   GENE

Isoform-specific and Protein Kinase C-mediated Regulation of CTP:Phosphoethanolamine Cytidylyltransferase Phosphorylation

(2014) Zvezdan Pavlovic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of Phosphatidylethanolamine Homeostasis — The Critical Role of CTP:Phosphoethanolamine Cytidylyltransferase (Pcyt2)

(2013) Zvezdan Pavlovic et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells

(2012) Jean E. Vance et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Functions of plasmalogen lipids in health and disease

(2012) Nancy E. Braverman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice

(2012) Ratnesh Kumar Singh et al.   JOURNAL OF LIPID RESEARCH

A cross-platform toolkit for mass spectrometry and proteomics

(2012) Matthew C Chambers et al.   NATURE BIOTECHNOLOGY

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS