4.6 Article

Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Reports from CAGI: The Critical Assessment of Genome Interpretation

Roger A. Hoskins et al.

HUMAN MUTATION (2017)

Article Genetics & Heredity

Newborn screening for Krabbe disease in New York State: the first eight years' experience

Joseph J. Orsini et al.

GENETICS IN MEDICINE (2016)

Article Multidisciplinary Sciences

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

Monkol Lek et al.

NATURE (2016)

Review Genetics & Heredity

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Regina M. Leadley et al.

ORPHANET JOURNAL OF RARE DISEASES (2014)

Article Multidisciplinary Sciences

Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

Shih-hsin Kan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Biochemistry & Molecular Biology

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

Yadilette Rivera-Colon et al.

JOURNAL OF MOLECULAR BIOLOGY (2012)

Article Genetics & Heredity

Incidence and Natural History of Mucopolysaccharidosis Type III in France and Comparison with United Kingdom and Greece

Benedicte Heron et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Clinical Neurology

Mucopolysaccharidosis Type IIIA: Clinical Spectrum and Genotype-Phenotype Correlations

Marlies J. Valstar et al.

ANNALS OF NEUROLOGY (2010)

Article Endocrinology & Metabolism

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

Marlies J. Valstar et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Endocrinology & Metabolism

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Helena Poupetova et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Genetics & Heredity

Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004

Hsiang-Yu Lin et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Pediatrics

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

Gunilla Malm et al.

ACTA PAEDIATRICA (2008)

Article Multidisciplinary Sciences

Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB

Elizabeth Ficko-Blean et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Ethics

Expanding newborn screening: Process, polity, and priorities

Virginia A. Moyer et al.

HASTINGS CENTER REPORT (2008)

Article Endocrinology & Metabolism

Cumulative incidence rates of the mucopolysaccharidoses in Germany

F Baehner et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2005)

Article Biochemistry & Molecular Biology

Loss of protein structure stability as a major causative factor in monogenic disease

P Yue et al.

JOURNAL OF MOLECULAR BIOLOGY (2005)

Article Biochemistry & Molecular Biology

Prevalence of lysosomal storage diseases in Portugal

R Pinto et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2004)

Article Biochemical Research Methods

Coot:: model-building tools for molecular graphics

P Emsley et al.

ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2004)