P. James

发表

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

B. Xia, R. Cummings, M. Hegde, 2016, Clinical chemistry.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1 , Phosphomannomutase 2 , and Phosphomannose Isomerase Deficiencies

B. Xia, R. Cummings, M. Hegde, 2015 .

The clinical aspects of newborn screening: importance of newborn screening follow-up.

H. Levy, P. James, 2006, Mental retardation and developmental disabilities research reviews.

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

H. Blom, Y. Chien, W. Hwu, 2015, Orphanet Journal of Rare Diseases.

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

J. Hirschhorn, C. Brownstein, A. Beggs, 2015, The Journal of clinical endocrinology and metabolism.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

C. Phornphutkul, E. Neilan, H. Levy, 2013, JIMD reports.

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Leslie G. Biesecker, Marjan Huizing, William L. Nyhan, 2011, Nature genetics.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Meghan C Towne, S. Ferdinandusse, C. Brownstein, 2018, JIMD reports.