Bobby G. Ng

Sanford Burnham Prebys Medical Discovery Institute

Also affiliated with Discovery Institute, Sanford Research

Biochemistry, Genetics and Molecular BiologyChemistryMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 19 papers. Top paper: “Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions”.

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

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

N/A

0.553DataRank · unranked

39 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 more

Expanding the molecular and clinical phenotypes of FUT8‐CDG

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12221

N/A

0.529DataRank · unranked

33 citations

Hassan Dastsooz, Mohammad Silawi, Parham Habibzadeh, Shima B. Jahan, Mohammad Ali Farazi Fard +10 more

Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions

The Journal of Cell Biology(2022)10.1083/jcb.202205038

N/A

0.494DataRank · unranked

26 citations

Bobby G. Ng, Lauren E. Pepi, Asif Shajahan, Maurice Wong, David A. Scott +7 more

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

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12595

N/A

0.345DataRank · unranked

9 citations

Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam +15 more

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

JIMD Reports(2020)10.1002/jmd2.12159

N/A

0.312DataRank · unranked

7 citations

Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed +3 more

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.012

N/A

0DataRank · unranked

17 citations

Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha Ranatunga, Marina Ventouratou +30 more

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

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more

GLUT1 is a highly efficient L-fucose transporter

Journal of Biological Chemistry(2022)10.1016/j.jbc.2022.102738

N/A

0DataRank · unranked

16 citations

Paulina Sosicka, Zhi‐Jie Xia, Hudson H. Freeze, Bobby G. Ng

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

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12527

N/A

0DataRank · unranked

15 citations

Bobby G. Ng, Alis Guberinic, Earnest James Paul Daniel, Nicole Engelhardt, Rita Barone +11 more

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12565

N/A

0DataRank · unranked

7 citations

Parith Wongkittichote, Earnest James Paul Daniel, Rodrigo Tzovenos Starosta, Keisuke Ueda, Bobby G. Ng +4 more

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

Journal of Medical Genetics(2022)10.1136/jmg-2022-108821

N/A

0DataRank · unranked

6 citations

Bobby G. Ng, Lama AlAbdi, Paul Daniel James Earnest, Paulina Sosicka, Nisha Patel +6 more

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

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12589

N/A

0DataRank · unranked

16 citations

Earnest James Paul Daniel, Jenny Thies, Irene J. Chang, Dana Goldner, Bobby G. Ng +19 more

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108472

N/A

0DataRank · unranked

11 citations

Erik A. Eklund, Silvia Radenkovic, Mustafa Sadek, Ibrahim Shammas, Sanne Verberkmoes +8 more

Contributors

Genomic and Personalized Medicine(2013)10.1016/b978-0-12-382227-7.00124-5

N/A

0DataRank · unranked

0 citations

Minhaz Uddin Ahmed, Sun Hee Ahn, R. Rand Allingham, Jude Alsarraj, Matthew L. Anderson +228 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in Medicine(2020)10.1038/s41436-019-0737-1

N/A

0DataRank · unranked

21 citations

Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson +26 more

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12249

N/A

0DataRank · unranked

9 citations

Bobby G. Ng, Shino Shimada, Lynne A. Wolfe, David R. Adams, Undiagnosed Diseases Network +6 more

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12378

N/A

0DataRank · unranked

29 citations

Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald +21 more

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

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12367

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Enikö K. Pivnick, Amal Alhashem +15 more