Christina Lam

Also affiliated with Norcliffe Foundation, Seattle Children's Hospital

Biochemistry, Genetics and Molecular BiologyMedicineChemistry

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 5%percentile

0.406Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

Human Mutation(2024)10.1155/2024/8813121

Top 45%

0.406DataRank

Top 45%10 citations

Mari‐Anne Vals, Mercedes Serrano, Peter Witters, Anna Čechová, Tomáš Honzík +20 more

Papers

Driven by 32 papers — median percentile 55. Top paper: “Reproductive intentions in childless female adolescent and young adult cancer survivors”.

Reproductive intentions in childless female adolescent and young adult cancer survivors

Fertility and Sterility(2020)10.1016/j.fertnstert.2019.09.030

N/A

1.2DataRank · unranked

23 citations

Ksenya Shliakhtsitsava, Shaylyn S. Stark, A.C. Medica, Kelsey Pinson, Brian W. Whitcomb +2 more

Targeted long-read sequencing identifies missing disease-causing variation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.006

N/A

0.825DataRank · unranked

243 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +45 more

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.06.003

N/A

0.442DataRank · unranked

13 citations

Tomáš Honzík, Andrew C. Edmondson, Can Fıçıcıoğlu, Mercedes Serrano, Rita Barone +13 more

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

Human Mutation(2024)10.1155/2024/8813121

Top 45%

0.406DataRank

Top 45%10 citations

Mari‐Anne Vals, Mercedes Serrano, Peter Witters, Anna Čechová, Tomáš Honzík +20 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

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Genetics in Medicine(2023)10.1016/j.gim.2023.101039

N/A

0.385DataRank · unranked

12 citations

Sven F. Garbade, Florian Gleich, Svenja Scharré, Jürgen G. Okun, Andrea Gropman +54 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.365395

N/A

0.360DataRank · unranked

10 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +32 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

Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG

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

N/A

0.292DataRank · unranked

6 citations

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

Causes of mortality in the congenital disorders of glycosylation

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109052

N/A

0.241DataRank · unranked

4 citations

Seishu Horikoshi, Sabrina Malone Jenkins, Fernando Scaglia, Christina Lam, Éva Morava +3 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0.208DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108566

N/A

0.208DataRank · unranked

3 citations

Stefan Kölker, Sven F. Garbade, Florian Gleich, Sandesh C. Sreenath Nagamani, Andrea Gropman +27 more

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Rare(2024)10.1016/j.rare.2024.100040

N/A

0.208DataRank · unranked

3 citations

Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd, Elisabeth A. Rosenthal +37 more

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.108112

N/A

0DataRank · unranked

6 citations

Sven F. Garbade, Florian Gleich, Sandesh C.S. Nagamani, Andrea Gropman, Friederike Epp +31 more

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108513

N/A

0DataRank · unranked

13 citations

Kyle D. Hope, Andrew C. Edmondson, Rameen Shah, Maria Patino, Abigail Yesso +7 more

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101886

N/A

0DataRank · unranked

7 citations

Jennifer N. Cech, Cate Paschal, Bri Dingmann, Anna I. Scott, Jenny Thies +24 more

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG)

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12782

N/A

0DataRank · unranked

2 citations

Dee Adedipe, Glennis Muldoon, Christina Lam, Donna M. Krasnewich, Audrey Thurm +2 more

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109087

N/A

0DataRank · unranked

2 citations

Gina L. Mazza, Andrew C. Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel +11 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

Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1]

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109708

N/A

0DataRank · unranked

0 citations

Christina Lam, Sheri A. Poskanzer, Jenny Thies, Holly Stevens, Wenyue Zhang +3 more

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

The Journal of Pediatrics(2020)10.1016/j.jpeds.2020.06.020

N/A

0DataRank · unranked

61 citations

Sarah V. Clowes Candadai, Megan Sikes, Jenny Thies, Heather M. Byers, Jennifer N. Dines +14 more

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia

Human Molecular Genetics(2020)10.1093/hmg/ddaa267

N/A

0DataRank · unranked

48 citations

Yogesh K. Chutake, Kaitlyn M. Gilliam, Christina Lam, Elisabetta Soragni, Lauren Hauser +7 more

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Genetics in Medicine(2021)10.1038/s41436-021-01200-2

N/A

0DataRank · unranked

26 citations

Marvid S. Duarte Moreno, Jean‐François Benoist, Manfred Boehm, E. Bourrat, Aline Cano +28 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

Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation

Frontiers in Neuroscience(2021)10.3389/fnins.2021.752921

N/A

0DataRank · unranked

10 citations

Kaitlyn M. Gilliam, Christina Lam, David R. Lynch, Sanjay I. Bidichandani, Layne N. Rodden

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

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Scientific Reports(2022)10.1038/s41598-022-09002-5

N/A

0DataRank · unranked

16 citations

Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi +6 more

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

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.06.006

N/A

0DataRank · unranked

12 citations

Phi Duong, Remwilyn Dayuha, Christopher J. Collins, Erika Beckman, Jenny Thies +10 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

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.007

N/A

0DataRank · unranked

8 citations

Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns +30 more

Christina Lam

Indexed papers

Top data-sharing exemplar

Papers