Hudson H. Freeze

Biochemistry, Genetics and Molecular BiologyChemistryImmunology and MicrobiologyMedicine

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 38 papers. Top paper: “Lysosomal Protease Pathways to Apoptosis”.

Lysosomal Protease Pathways to Apoptosis

Journal of Biological Chemistry(2001)10.1074/jbc.m008944200

N/A

0.973DataRank · unranked

654 citations

Boris Turk, Sharon L. Schendel, Tae-Hyoung Kim, Tina Cirman, Scott J. Snipas +17 more

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.22

N/A

0.821DataRank · unranked

238 citations

Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Thomas Bast, Rebecca Crimian +29 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

A complement C4–derived glycopeptide is a biomarker for PMM2-CDG

JCI Insight(2024)10.1172/jci.insight.172509

N/A

0.388DataRank · unranked

10 citations

Rohit Budhraja, Mayank Saraswat, Jin Yong Kim, Neha Joshi, Gunveen S. Sachdeva +18 more

Correction: Corrigendum: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.61

N/A

0.136DataRank · unranked

1 citations

Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast +28 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

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

0DataRank · unranked

38 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

0DataRank · unranked

33 citations

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

Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3

Journal of Biological Chemistry(2020)10.1074/jbc.ra119.012362

N/A

0DataRank · unranked

29 citations

Paulina Sosicka, Dorota Maszczak‐Seneczko, Edyta Skurska, Auhen Shauchuk, Teresa Olczak +3 more

Evolutionary conservation of human ketodeoxynonulosonic acid production is independent of sialoglycan biosynthesis

Journal of Clinical Investigation(2020)10.1172/jci137681

N/A

0DataRank · unranked

26 citations

Sudeshna Saha, Sandra Diaz, Michael Vaill, Aniruddha Sasmal, Shoib Sarwar Siddiqui +10 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

0DataRank · unranked

7 citations

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

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.013

N/A

0DataRank · unranked

22 citations

Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier‐Barrot, Mindy Porterfield +27 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

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

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01751-2

N/A

0DataRank · unranked

21 citations

Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo Raymond +4 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

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis

JCI Insight(2021)10.1172/jci.insight.153474

N/A

0DataRank · unranked

9 citations

Lynn Dukes‐Rimsky, Brijesh Kumar, Zhi‐Jie Xia, Tammie Dang, Mark A. Lehrman +6 more

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

Frontiers in Genetics(2021)10.3389/fgene.2021.744884

N/A

0DataRank · unranked

7 citations

Moisés Ó. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel +17 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

Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells

Biochemical and Biophysical Research Communications(2022)10.1016/j.bbrc.2022.09.100

N/A

0DataRank · unranked

3 citations

Carlo Magaway, Jaylene Everett, Ling Li, Belinda Willard, Hudson H. Freeze +2 more

Cataloging natural sialic acids and other nonulosonic acids (NulOs), and their representation using the Symbol Nomenclature for Glycans

Glycobiology(2023)10.1093/glycob/cwac072

N/A

0DataRank · unranked

24 citations

Filip V. Toukach, Evan E. Bolton, Xi Chen, Martin Frank, Thomas Lütteke +44 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

Metabolic clogging of mannose triggers dNTP loss and genomic instability in human cancer cells

eLife(2023)10.7554/elife.83870

N/A

0DataRank · unranked

15 citations

Yu Mizote, Takehiro Suzuki, Akiyoshi Hirayama, Satsuki Ikeda, Mikako Nishida +14 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

0DataRank · unranked

9 citations

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

Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12739

N/A

0DataRank · unranked

6 citations

Andrew C. Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H. Freeze +2 more

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101915

N/A

0DataRank · unranked

1 citations

Julian C. Lui, Dana Marafi, Zhi‐Jie Xia, Ruchika Bhatia, Elaine Zhou +21 more

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics

Brain(2025)10.1093/brain/awaf198

N/A

0DataRank · unranked

8 citations

Paulina Sosicka, Damian J. Williams, MaryAnn E Bowyer, Andrew K. Ressler, Sarah E. Kohrt +6 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

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

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12286

N/A

0DataRank · unranked

66 citations

Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Čechová +31 more

Golgi Acidification by NHE7 Regulates Cytosolic pH Homeostasis in Pancreatic Cancer Cells

Cancer Discovery(2020)10.1158/2159-8290.cd-19-1007

N/A

0DataRank · unranked

51 citations

Paulina Sosicka, Michael Jung, M. Victoria Recouvreux, Yijuan Zhang, Matthew R. Moldenhauer +4 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

A mutation map for human glycoside hydrolase genes

Glycobiology(2020)10.1093/glycob/cwaa010

N/A

0DataRank · unranked

13 citations

Diab M. Husein, Birthe Gericke, Torben Hansen, Oluf Pedersen, Mitali A. Tambe +7 more