J. Thies

发表

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.

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.

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

A. Need, A. Pagnamenta, J. Wren, 2021, 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.

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

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

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

T. Kleefstra, C. Fagerberg, M. Kurian, 2021, medRxiv.

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

V. Narayanan, A. Afenjar, S. Skinner, 2023, medRxiv.

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.

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.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

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

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.

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.

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

H. Mefford, E. Novotny, Q. Cong, 2018, American journal of medical genetics. Part A.

CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum

A. Innes, J. Bennett, J. Mah, 2020, American journal of medical genetics. Part A.

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.

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

Amanda S Freed, Sarah V. Clowes Candadai, M. Sikes, 2019, Journal of genetic counseling.