To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

(2019) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The functional genomics laboratory: functional validation of genetic variants

(2018) Richard J. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

Metabolic Remodeling during Liver Regeneration

(2018) Matias J. Caldez et al.   DEVELOPMENTAL CELL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

(2015) Liyan Hu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening

(2014) M. Barends et al.   MOLECULAR GENETICS AND METABOLISM

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program

(2014) J.S. Lim et al.   MOLECULAR GENETICS AND METABOLISM

Mutations and Polymorphisms in the HumanArgininosuccinate Lyase(ASL) Gene

(2013) Cécile Balmer et al.   HUMAN MUTATION

Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria

(2013) Liyan Hu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Proline: The Distribution, Frequency, Positioning, and Common Functional Roles of Proline and Polyproline Sequences in the Human Proteome

(2013) Alexander A. Morgan et al.   PLoS One

Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry

(2012) Tomris Ozben   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

(2012) Barry Wolf   GENETICS IN MEDICINE

Argininosuccinate lyase deficiency

(2012) Sandesh C.S. Nagamani et al.   GENETICS IN MEDICINE

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

(2010) S. Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

(2009) Eva Trevisson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening

(2009) C. Ficicioglu et al.   MOLECULAR GENETICS AND METABOLISM

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

(2008) Mendel Tuchman et al.   MOLECULAR GENETICS AND METABOLISM