Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency

Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death

(2021) Johanna Becker et al.   NEUROPEDIATRICS

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings

(2021) Päivi Vieira et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2020) Konrad J. Karczewski et al.   NATURE

Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake

(2020) Kimihiko Oishi et al.   JOURNAL OF HUMAN GENETICS

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

(2020) Adam C Gunning et al.   JOURNAL OF MEDICAL GENETICS

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

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency

(2019) Franciele Cabral Pinheiro et al.   GENE

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

(2018) Fathiya Al-Murshedi et al.   European Journal of Medical Genetics

OUP accepted manuscript

(2018)   NUCLEIC ACIDS RESEARCH

Inborn Errors of Metabolism with Hypoglycemia

(2018) David A. Weinstein et al.   PEDIATRIC CLINICS OF NORTH AMERICA

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

(2017) Päivi Vieira et al.   MOLECULAR GENETICS AND METABOLISM

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

(2017) Christina Evers et al.   MOLECULAR GENETICS AND METABOLISM

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

(2016) Saikat Santra et al.   MOLECULAR GENETICS AND METABOLISM

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

(2015) Elise Lebigot et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

(2014) David R. Adams et al.   MOLECULAR GENETICS AND METABOLISM

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Thematic Minireview Series: A Perspective on the Biology of Phosphoenolpyruvate Carboxykinase 55 Years After Its Discovery

(2009) Richard W. Hanson   JOURNAL OF BIOLOGICAL CHEMISTRY

What Is the Metabolic Role of Phosphoenolpyruvate Carboxykinase?

(2009) Jianqi Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY