I. Chang

发表

Congenital disorders of glycosylation.

Christina Lam, M. He, I. Chang, 2018, Annals of translational medicine.

Novel pregnancy‐triggered episodes of CAPOS syndrome

I. Glass, T. Bird, S. Jayadev, 2018, American journal of medical genetics. Part A.

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Karynne E. Patterson, Danny E. Miller, H. Mefford, 2020, bioRxiv.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

E. Eichler, M. Bamshad, J. Buchan, 2022, medRxiv.

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

Jeroen A. A. Demmers, R. Hevner, C. Keene, 2019, American journal of human genetics.

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I

Christina Lam, I. Chang, M. Gelb, 2022, Molecular genetics and metabolism.

Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

Christina Lam, J. Merritt, I. Chang, 2020, JPEN. Journal of parenteral and enteral nutrition.

The genetics of Wilson disease.

I. Chang, S. Hahn, 2017, Handbook of clinical neurology.

Lysosomal Storage Disorders

Christina Lam, G. Berry, I. Chang, 2021, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Christina Lam, P. Rinaldo, D. Matern, 2021, JIMD reports.

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

H. Freeze, Christina Lam, L. Wolfe, 2023, Journal of inherited metabolic disease.

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

Jeffrey R. Whiteaker, A. Paulovich, H. Ochs, 2018, Front. Immunol..

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

H. Ochs, T. Torgerson, C. Myers, 2020, Molecular genetics & genomic medicine.

Influence of enteral feeding and anemia on tissue oxygen extraction after red blood cell transfusion in preterm infants

Albee Y. Ling, G. P. Goldstein, V. Chock, 2020, Transfusion.

Factor VIII and vWF deficiency in STT3A‐CDG

H. Freeze, Christina Lam, J. Merritt, 2019, Journal of inherited metabolic disease.

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

I. Chang, Dararat Mingbunjerdsuk, Valerie Olson, 2022, Journal of movement disorders.

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

I. Glass, M. Goldberg, I. Chang, 2018, American journal of medical genetics. Part A.

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

H. Freeze, Christina Lam, G. Enns, 2023, Journal of inherited metabolic disease.

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

Christina Lam, A. Larson, J. V. Van Hove, 2018, Pediatric Nephrology.

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Christina Lam, A. Beck, M. Schultz, 2020, American journal of medical genetics. Part A.

Short-term neurodevelopmental outcomes in neonates with congenital heart disease: the era of newer surgical strategies.

V. M. Reddy, V. Chock, I. Chang, 2012, Congenital heart disease.

Pharmacokinetics of oral l-serine supplementation in a single patient

C. Ferreira, I. Chang, Anna I. Scott, 2020, Molecular Genetics and Metabolism Reports.