N. Miller

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

J. Cooper, R. Giugliani, Z. Lukacs, 2016, Molecular genetics and metabolism.

Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program

R. Truty, S. Aradhya, S. Bristow, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

S. Daugherty, R. Truty, M. Econs, 2021, Human mutation.

Diagnosis of the mucopolysaccharidoses.

T. Lehman, J. Keutzer, N. Miller, 2011, Rheumatology.

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene

R. Tomanin, L. Karageorgos, J. Hopwood, 2018, Human mutation.

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

S. Mole, A. Schulz, N. Miller, 2019, Human mutation.

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

S. Mooney, M. Hegde, L. Gort, 2014, Molecular genetics and metabolism.

DMD Open‐access Variant Explorer (DOVE): A scalable, open‐access, web‐based tool to aid in clinical interpretation of genetic variants in the DMD gene

Mitchell Bailey, Nicole Miller, N. Miller, 2018, Molecular genetics & genomic medicine.

Recombinant, truncated B. circulans keratanase-II: Description and characterisation of a novel enzyme for use in measuring urinary keratan sulphate levels via LC-MS/MS in Morquio A syndrome.

M. Steward, R. Shediac, Yana Berezovskaya, 2015, Clinical biochemistry.

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database

T. Oron, S. Mooney, A. Morrone, 2014, Human mutation.

Expert recommendations for the laboratory diagnosis of MPS VI.

W. Hwu, M. Pasquali, C. Hendriksz, 2012, Molecular genetics and metabolism.