Bobby George Ng

9PUBLICATIONS
43CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Molecular medicineDevelopmental genetics (incl. sex determination)GlycoconjugatesEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Apr 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

|Aug 04, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo

|Nov 10, 2022
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

Sonal Mahajan, Bobby George Ng, Lama AlAbdi

|Jul 05, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

Shino Shimada, Bobby G Ng, Amy L White

|Jul 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Bobby G Ng, Erik A Eklund, Sergey A Shiryaev

|Feb 13, 2020
Expanding the molecular and clinical phenotypes of FUT8-CDG.

Bobby G Ng, Hassan Dastsooz, Mohammad Silawi

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Frequent Collaborators

2 joint publications

Hudson H Freeze

2 joint publications

Sonal Mahajan

1 joint publications

Maria K Haanpää

1 joint publications

Virginia Kimonis