M. Procter

发表

Creatine transporter deficiency: Novel mutations and functional studies

N. Longo, Y. Anikster, R. Mao, 2016, Molecular genetics and metabolism reports.

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene☆

N. Longo, R. Mao, T. Tvrdik, 2014, Molecular genetics and metabolism reports.

A patient with prolonged paralysis.

Jodell E Whittington, R. Mao, D. Grenache, 2012, Clinical chemistry.

α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.

Dina N. Greene, E. Lyon, R. Mao, 2012, Chest.

Forty-eight novel mutations causing biotinidase deficiency.

R. Mao, B. Wolf, M. Procter, 2016, Molecular genetics and metabolism.

Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.

R. Mao, J. Haas, Brenda B. Suh-Lailam, 2014, American journal of clinical pathology.

Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency.

R. Mao, J. Bornhorst, E. Ashwood, 2007, American journal of clinical pathology.

Genotypes and serum concentrations of human alpha-1-antitrypsin “P” protein variants in a clinical population

R. Mao, J. Bornhorst, F. Calderon, 2007, Journal of Clinical Pathology.

The Biotinidase Gene Variants Registry: A Paradigm Public Database

D. Crockett, R. Mao, B. Wolf, 2013, G3: Genes, Genomes, Genetics.

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

R. Mao, T. Kuntzer, P. Burda, 2020, Frontiers in Neurology.

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy

A. Imbard, J. Savatovsky, B. Wolf, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Evaluation of the ELVIS plate method for the detection and typing of herpes simplex virus in clinical specimens.

G. Woods, D. Hillyard, M. Procter, 2004, Diagnostic microbiology and infectious disease.

Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation?

S. South, C. Curry, A. Brothman, 2008, American journal of medical genetics. Part A.

Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.

R. Mao, Wei Tang, Lan-Szu Chou, 2006, Clinical chemistry.

Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting.

R. Mao, M. L. Parnás, D. Grenache, 2011, American journal of clinical pathology.

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

A. Patapoutian, Helen J Kim, P. Bayrak-Toydemir, 2015, Nature Communications.

Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.

E. Lyon, P. Bayrak-Toydemir, C. Vaughn, 2011, Genetic testing and molecular biomarkers.

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

R. Mao, S. Shankar, D. Quigley, 2022, Molecular genetics & genomic medicine.

Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

E. Lyon, J. Swensen, P. Bayrak-Toydemir, 2014, The Journal of molecular diagnostics : JMD.

Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis.

Dina N. Greene, E. Lyon, R. Mao, 2011, Clinica chimica acta; international journal of clinical chemistry.