Éva Morava

Also affiliated with Icahn School of Medicine at Mount Sinai

MedicineNeuroscience

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 44 papers — median percentile 55. Top paper: “D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial”.

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-020-01609-z

N/A

0.667DataRank · unranked

14 citations

Hans C. Andersson, Jaak Jaeken, Laura A. Tseng, Clara D.M. van Karnebeek, Dirk J. Lefeber +3 more

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Hepatology(2020)10.1002/hep.31218

N/A

0.596DataRank · unranked

52 citations

Laurie A. Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal +23 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

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder

Cell Reports(2024)10.1016/j.celrep.2024.114976

N/A

0.387DataRank · unranked

10 citations

Sneha S. Mokashi, Silvia Radenkovic, Kali Wiggins, Lynn Dukes‐Rimsky, Peggi M. Angel +6 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Genetics in Medicine(2020)10.1038/s41436-019-0739-z

N/A

0DataRank · unranked

33 citations

Emmalie A. Jager, Derk P. Allersma, Ayşe Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray +19 more

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.10.007

N/A

0DataRank · unranked

25 citations

Taylor Fitzpatrick‐Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty +13 more

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

JIMD Reports(2020)10.1002/jmd2.12160

N/A

0DataRank · unranked

4 citations

Jef Van den Eynde, Stéphane Heymans, Luc Mertens, Éva Morava, Zhen Qian

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.017

N/A

0DataRank · unranked

26 citations

Ulrich A. Schatz, Pernille Mathiesen Tørring, Mary-Alice Abbott, Matthias Baumann, Charlotte Brasch‐Andersen +11 more

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.019

N/A

0DataRank · unranked

47 citations

Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu +42 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

Nutrition interventions in congenital disorders of glycosylation

Trends in Molecular Medicine(2022)10.1016/j.molmed.2022.04.003

N/A

0DataRank · unranked

35 citations

Christin Johnsen, Éva Morava, Suzanne Boyer

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

Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants

Molecular Genetics and Metabolism Reports(2022)10.1016/j.ymgmr.2022.100901

N/A

0DataRank · unranked

10 citations

Larissa Veres, Anab Mohamed, Diederik De Graef, Éva Morava, Jehan Mousa

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Genetics in Medicine(2023)10.1016/j.gim.2023.101027

N/A

0DataRank · unranked

17 citations

Judit Perez Ortiz, Anna N. Ligezka, Ruqaiah Altassan, Christin Johnsen, Matthew Schultz +3 more

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

Therapeutic Advances in Rare Disease(2023)10.1177/26330040221150269

N/A

0DataRank · unranked

11 citations

Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder, Kaitlin Schwartz +5 more

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports(2024)10.1016/j.celrep.2024.113883

N/A

0DataRank · unranked

26 citations

Rohit Budhraja, Teun M. Klein Gunnewiek, Alexia King, Tarun N. Bhatia, Anna N. Ligezka +9 more

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108487

N/A

0DataRank · unranked

16 citations

Silvia Radenkovic, Anu Jain, Irena Muffels, Moulay Hicham Alaoui Ismaili, Tamás Kozicz +3 more

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome

Journal of Biological Chemistry(2024)10.1016/j.jbc.2024.107599

N/A

0DataRank · unranked

18 citations

Naomi L. Hitefield, Ignacy Czajewski, Lotte Vanhye, Laura L. Holden, Éva Morava +3 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

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts

PROTEOMICS(2024)10.1002/pmic.202400012

N/A

0DataRank · unranked

12 citations

Neha Joshi, Silvia Radenkovic, Tamás Kozicz, Éva Morava, Akhilesh Pandey +1 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

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108469

N/A

0DataRank · unranked

10 citations

Iván Martínez-Duncker, Éva Morava, Wasantha Ranatunga, Roberta Salinas-Marín, Ana González-Jaimes +7 more

Coagulation abnormalities and vascular complications are common in PGM1-CDG

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108530

N/A

0DataRank · unranked

5 citations

Sofie Bleukx, Nicole Engelhardt, Erik A. Eklund, Saadet Mercimek‐Andrews, Andrew C. Edmondson +2 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Causes of mortality in the congenital disorders of glycosylation

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

N/A

0DataRank · unranked

4 citations

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

“Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs ”

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70004

N/A

0DataRank · unranked

3 citations

Éva Morava, Jean‐Marie Saudubray, Àngels García‐Cazorla

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

Dolichol synthesis defects: a cautionary note on the use of statins

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109186

N/A

0DataRank · unranked

2 citations

Éva Morava, Matthew P. Wilson

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.06.01.657261

N/A

0DataRank · unranked

2 citations

Rohit Budhraja, Zijie Xia, Ashley Melendez-Perez, Cadmus Cai, Silvia Radenkovic +15 more

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109196

N/A

0DataRank · unranked

0 citations

Sarah K Aldhahri, Georgia MacDonald, Rameen Shah, Éva Morava, Ruqaiah Altassan

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.08.15.670547

N/A

0DataRank · unranked

0 citations

Samuel Boris Tene Tadoum, Irena Muffels, Rohit Budhraja, Luisa Sturiale, Angela Messina +20 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

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

medRxiv(2025)10.1101/2025.10.09.25337582

N/A

0DataRank · unranked

0 citations

Neil Jacob, Mohammad Ghouse Syed, Janhawi Kelkar, Colleen Donnelly, Ibrahim Elsharkawi +6 more

Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12241

N/A

0DataRank · unranked

64 citations

Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia, M Girard +16 more

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

Translational Psychiatry(2020)10.1038/s41398-020-0858-y

N/A

0DataRank · unranked

48 citations

Graeme Preston, Bram Geenen, Viviènne Verweij, Maximilian Wiesmann, Elisavet Vasileiou +14 more

PMM2‐CDG caused by uniparental disomy: Case report and literature review

JIMD Reports(2020)10.1002/jmd2.12122

N/A

0DataRank · unranked

7 citations

George E. Tiller, Belén Pérez, Suzanne Boyer, Susan A. Berry, Kyriakie Sarafoglou +2 more

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12255

N/A

0DataRank · unranked

10 citations

Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero‐Castillo, Daisy Dalloyaux, Sanne van Kraaij +16 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

Éva Morava

Indexed papers

Top data-sharing exemplar

Papers