May Christine V. Malicdan

National Human Genome Research Institute

MedicineBiochemistry, Genetics and Molecular Biology

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

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 →

Papers

Driven by 55 papers. Top paper: “Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study”.

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Genetics in Medicine(2021)10.1038/s41436-021-01259-x

N/A

1.9DataRank · unranked

56 citations

May Christine V. Malicdan, Petcharat Leoyklang, Joseph A. Shrader, Galen O. Joe, Christina Slota +17 more

ERMA (TMEM94) is a P-type ATPase transporter for Mg2+ uptake in the endoplasmic reticulum

Molecular Cell(2024)10.1016/j.molcel.2024.02.033

N/A

0.667DataRank · unranked

19 citations

Manigandan Venkatesan, Travis R. Madaris, Mridula K. Venkateswaran, Kristen Stanley, R. Karthik +16 more

Chediak-Higashi syndrome

Current Opinion in Hematology(2023)10.1097/moh.0000000000000766

N/A

0.590DataRank · unranked

50 citations

May Christine V. Malicdan, Wendy J. Introne, Mackenzie L. Talbert

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

Muscle & Nerve(2008)10.1002/mus.21030

N/A

0.416DataRank · unranked

15 citations

Megumu Ogawa, Mari Okada, May Christine V. Malicdan, Yu‐Ichi Goto, Yukiko K. Hayashi +3 more

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

Respiratory Research(2022)10.1186/s12931-022-02002-z

N/A

0.396DataRank · unranked

6 citations

Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlík, Lauren Testa +9 more

Chedíak-Higashi Syndrome: Hair-to-toe spectrum

Seminars in Pediatric Neurology(2024)10.1016/j.spen.2024.101168

N/A

0.360DataRank · unranked

10 citations

Ariane Soldatos, Camilo Toro, Wadih M. Zein, Joseph Snow, Tanya Lehky +3 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

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare(2025)10.1016/j.rare.2025.100065

N/A

0.165DataRank · unranked

2 citations

Lynne A. Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl +4 more

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype

Communications Biology(2025)10.1038/s42003-025-08482-1

N/A

0.104DataRank · unranked

1 citations

Mackenzie L. Talbert, F. Graeme Frost, Patricia M. Zerfas, Danielle Springer, Audrey Noguchi +13 more

Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

Biochemistry and Biophysics Reports(2025)10.1016/j.bbrep.2025.101979

N/A

0.104DataRank · unranked

1 citations

Mahin Hossain, Laura Pollard, Marjan Huizing, William A. Gahl, Frances M. Platt +2 more

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies

Kidney International Reports(2025)10.1016/j.ekir.2025.103758

N/A

0.104DataRank · unranked

1 citations

Anirban Ganguli, Jonathan Bolaños, Petcharat Leoyklang, Kenneth J. Wilkins, Yi Arial Zeng +10 more

Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens

Frontiers in Medicine(2021)10.3389/fmed.2021.607720

N/A

0DataRank · unranked

26 citations

Yvon Julé, Linnea Lundh, Karine Bertotti, Melissa A. Merideth, Kevin O’Brien +6 more

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.01.103

N/A

0DataRank · unranked

21 citations

Andrew C. Kim, Karolyn Garcia, Lisa A. Schimmenti, Ellen F. Macnamara, Undiagnosed Diseases Network +4 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

MYH2-associated myopathy caused by a novel splice-site variant

Neuromuscular Disorders(2022)10.1016/j.nmd.2022.12.014

N/A

0DataRank · unranked

8 citations

May Christine V. Malicdan, Ellen F. Macnamara, Tanya Lehky, Iren Horkayne‐Szakaly, Yan Huang +6 more

Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility

Respiratory Research(2022)10.1186/s12931-022-02083-w

N/A

0DataRank · unranked

6 citations

Steven P. Bodine, Anthony M. Lamattina, Dong-Dong Ma, Shikshya Shrestha, Dawn Maynard +13 more

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.31966

N/A

0DataRank · unranked

4 citations

Melissa A. Parisi, Burak Altintas, May Christine V. Malicdan, Thierry Vilboux, Jasmine Knoll +6 more

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene

Frontiers in Genetics(2022)10.3389/fgene.2022.936064

N/A

0DataRank · unranked

3 citations

Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit M. Philosoph +4 more

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

Brain(2022)10.1093/brain/awac357

N/A

0DataRank · unranked

3 citations

Thomas B. Nutman, Tory P. Johnson, Scott F. Dowell, James J. Sejvar, Michael R. Wilson +28 more

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.518921

N/A

0DataRank · unranked

0 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +9 more

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Journal of Medical Genetics(2023)10.1136/jmg-2023-109420

N/A

0DataRank · unranked

22 citations

Elena‐Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra‐Vinardell, Prashant Sharma +12 more

Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.100990

N/A

0DataRank · unranked

16 citations

Christina Deanne P. Tolete, Yan Huang, Ellen F. Macnamara, David Sept, Galina Nesterova +4 more

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

New England Journal of Medicine(2020)10.1056/nejmoa2026834

N/A

0DataRank · unranked

1168 citations

Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei +57 more

In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis

Biomedicine & Pharmacotherapy(2023)10.1016/j.biopha.2023.115178

N/A

0DataRank · unranked

5 citations

Mengbi Yang, Pranav Shah, Amy Q. Wang, Jianmin Duan, Joshua K. Park +9 more

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

Frontiers in Genetics(2023)10.3389/fgene.2023.1072784

N/A

0DataRank · unranked

6 citations

Marie Morimoto, Elena‐Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward +10 more

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features

Human Genetics(2024)10.1007/s00439-024-02708-8

N/A

0DataRank · unranked

2 citations

Jason R. McFadden, F. Graeme Frost, Thomas C. Markello, Dorothy K. Grange, Wendy J. Introne +3 more

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

JIMD Reports(2024)10.1002/jmd2.12459

N/A

0DataRank · unranked

4 citations

Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine V. Malicdan, David R. Adams +4 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

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research(2024)10.1016/j.scr.2024.103600

N/A

0DataRank · unranked

2 citations

Petcharat Leoyklang, Mary E. Hackbarth, Е. С. Пак, Amalia Dutra, Richard G. Tait +6 more

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

FEBS Letters(2024)10.1002/1873-3468.15088

N/A

0DataRank · unranked

2 citations

Bernadette R. Gochuico, Hadass Pri Chen, Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne +3 more

Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

medRxiv(2024)10.1101/2024.05.16.24307300

N/A

0DataRank · unranked

4 citations

Abhishek Basu, Muhammad Arif, Joshua K. Park, Charles N. Zawatsky, Ben Long G. Zuo +9 more

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109105

N/A

0DataRank · unranked

3 citations

Thomas Cassini, Jiayu Fu, Barbara N. Pusey, Ellen F. Macnamara, F. Graeme Frost +7 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

American Journal of Respiratory and Critical Care Medicine(2025)10.1164/rccm.202406-1143rl

N/A

0DataRank · unranked

3 citations

Abhishek Basu, Muhammad Arif, Joshua K. Park, Charles N. Zawatsky, Ben Long G. Zuo +9 more

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

Scientific Reports(2025)10.1038/s41598-025-12682-4

N/A

0DataRank · unranked

2 citations

Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard +7 more

Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk

Parkinsonism & Related Disorders(2025)10.1016/j.parkreldis.2025.107790

N/A

0DataRank · unranked

2 citations

Mary B. Makarious, Marjan Huizing, William A. Gahl, Frances M. Platt, May Christine V. Malicdan +1 more

Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis

American Journal of Respiratory Cell and Molecular Biology(2025)10.1165/rcmb.2024-0628oc

N/A

0DataRank · unranked

1 citations

Abhishek Basu, Ben Long G. Zuo, Mei Xing G Zuo, Kevin O’Brien, Lenny Pommerolle +12 more

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports(2025)10.1002/jmd2.70029

N/A

0DataRank · unranked

0 citations

Laura Pollard, Lynne A. Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang +5 more

Tandem splice acceptor sites: Profiling their relevance to human disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101520

N/A

0DataRank · unranked

0 citations

Shaopeng Gu, Adrienne Elbert, Stephanie Huynh, Hyun Kyung Lee, May Christine V. Malicdan +3 more

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases

Rare(2025)10.1016/j.rare.2025.100112

N/A

0DataRank · unranked

0 citations

Yuka Aoyama, Rena A. Godfrey, Colleen Evans Howe, Joshi Stephen, May Christine V. Malicdan +3 more

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder

Molecular Genetics and Metabolism Reports(2025)10.1016/j.ymgmr.2025.101275

N/A

0DataRank · unranked

0 citations

Kostantin Dobrenis, Allisandra Rha, Laura Pollard, Petcharat Leoyklang, Mariah Marrero +8 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Hermansky–Pudlak syndrome: Mutation update

Human Mutation(2020)10.1002/humu.23968

N/A

0DataRank · unranked

113 citations

May Christine V. Malicdan, Jennifer A. Wang, Hadass Pri‐Chen, Richard A. Hess, Roxanne Fischer +5 more

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.09.008

N/A

0DataRank · unranked

12 citations

Jennifer Wang, Daron L. Ross, Nicholas Balanda, Yan Huang, Rena A. Godfrey +6 more

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

PLoS Genetics(2020)10.1371/journal.pgen.1008841

N/A

0DataRank · unranked

22 citations

Aurélie Clément, Sarah J. Stednitz, Jennifer Kyle, Judy Peirce, Marcie McFadden +18 more

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

Human Molecular Genetics(2020)10.1093/hmg/ddaa237

N/A

0DataRank · unranked

19 citations

John Dronzek, Claudia Gonzaga‐Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer J. Nuwayhid +20 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

Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines

Stem Cell Research(2020)10.1016/j.scr.2020.101883

N/A

0DataRank · unranked

6 citations

Maxwell B. Sandler, Evgenia Pak, Wei Zheng, Amalia Dutra, Wendy J. Introne +3 more

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

Disease Models & Mechanisms(2020)10.1242/dmm.041913

N/A

0DataRank · unranked

10 citations

Tong Wang, Trevor Moreland, Rajalakshmi Veeranan‐Karmegam, Manxiu Ma, Chelsi Jeter +15 more

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.02.005

N/A

0DataRank · unranked

24 citations

Minal Menezes, Yiran Guo, Scott McLean, Håkon Håkonarson, Felicity Collins +13 more

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.02.973909

N/A

0DataRank · unranked

1 citations

John Dronzek, Claudia Gonzaga‐Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer J. Nuwayhid +20 more

Free sialic acid storage disorder: Progress and promise

Neuroscience Letters(2021)10.1016/j.neulet.2021.135896

N/A

0DataRank · unranked

45 citations

Mary E. Hackbarth, David R. Adams, Melissa Wasserstein, Marc C. Patterson, Steven U. Walkley +11 more

Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.07.013

N/A

0DataRank · unranked

16 citations

Omar A. Itani, Sonia El Mouridi, Alice Leclercq-Blondel, Marie Gendrel, Ellen F. Macnamara +12 more