Christina Lam

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

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich et al. · Genetics in Medicine · 2016 · 147 citations · Full text

Life Sciences, Genetics, Molecular Medicine +12

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

Amanda S. Freed, Sarah V. Clowes Candadai, Megan Sikes et al. · The Journal of Pediatrics · 2020 · 60 citations · Full text

Medicine, Molecular Genetics, Pediatrics +16

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

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke et al. · Brain · 2020 · 59 citations · Full text

Medicine, Molecular Genetics, Neurology +13

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

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen et al. · Human Mutation · 2016 · 58 citations · Full text

Life Sciences, Biochemistry, Genetics +17