Christina Lam

发表

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Ellen F. Macnamara, C. Toro, W. Gahl, 2016, Genetics in Medicine.

Congenital disorders of glycosylation.

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

Expanded newborn screening for inborn errors of metabolism: overview and outcomes.

Christina Lam, Derek Wong, A. Sun, 2012, Advances in pediatrics.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

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

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

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

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.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

M. Patterson, H. Plotkin, Christina Lam, 2021, Molecular genetics and metabolism.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

W. Gahl, M. Huizing, Christina Lam, 2014, Molecular genetics and metabolism reports.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

A Participatory Framework for Plain Language Clinical Management Guideline Development

Christina Lam, D. Krasnewich, E. Morava, 2022, International journal of environmental research and public health.

Peanut consumption increases levels of plasma very long chain fatty acids in humans.

S. Cederbaum, Christina Lam, Derek Wong, 2012, Molecular genetics and metabolism.

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

S. Cederbaum, Christina Lam, C. Pérez-Cerdá, 2011, Molecular genetics and metabolism.

Aberrant Drp1‐mediated mitochondrial division presents in humans with variable outcomes

Sharyn A. Lincoln, I. Glass, M. Tarnopolsky, 2018, Human molecular 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 Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

H. Mefford, J. N. Dines, Christina Lam, 2020, The Journal of pediatrics.

ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines

H. Freeze, Christina Lam, L. Wolfe, 2022, Journal of inherited metabolic disease.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Christina Lam, C. Ferreira, A. Freeman, 2021, Genetics in Medicine.

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.

S. Cederbaum, Christina Lam, Derek Wong, 2013, Molecular genetics and metabolism.

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

S. Cederbaum, Christina Lam, R. Sokol, 2014, The Journal of pediatrics.

Lysosomal Storage Disorders

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

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

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

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

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

D. Adams, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

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.

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

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

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

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.

Factor VIII and vWF deficiency in STT3A‐CDG

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

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

H. Freeze, W. Gahl, Christina Lam, 2018, Molecular genetics and metabolism.

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

E. Perlstein, Christina Lam, D. Cassiman, 2021, Annals of neurology.

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

J. Rosenfeld, D. Nickerson, M. Bamshad, 2021, Journal of inherited metabolic disease.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

H. Freeze, M. Patterson, Christina Lam, 2021, Orphanet Journal of Rare Diseases.

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.

Christina Lam, E. Morava, T. Kozicz, 2023, Molecular genetics and metabolism.

Tracer metabolomics reveals the role of aldose reductase in glycosylation

Christina Lam, M. Schultz, D. Cassiman, 2023, Cell reports. Medicine.

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.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

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

Patient-reported outcomes and quality of life in PMM2-CDG.

Christina Lam, E. Morava, A. Edmondson, 2022, Molecular genetics and metabolism.

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

Christina Lam, L. Wolfe, E. Morava, 2021, Orphanet Journal of Rare Diseases.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.