Wendy J. Introne

Also affiliated with Mount Sinai Hospital, National Human Genome Research Institute, Office of the Director, Mount Sinai Hospital, National Institutes of Health Clinical Center, Icahn School of Medicine at Mount Sinai

Biochemistry, Genetics and Molecular BiologyMedicine

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 21 papers. Top paper: “Chediak-Higashi syndrome”.

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

Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome

JCI Insight(2024)10.1172/jci.insight.178381

N/A

0.511DataRank · unranked

13 citations

Kiran Klubock-Shukla, Selena Sheth, Dongqin Yang, Alina X Yang, Carmelissa Norbrun +4 more

Assessment of Thyroid Function in Patients With Alkaptonuria

JAMA Network Open(2020)10.1001/jamanetworkopen.2020.1357

N/A

0.442DataRank · unranked

18 citations

Wendy J. Introne, Sungyoung Auh, Steven J. Soldin, Brian Stolze, Debra S. Regier +6 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

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108562

N/A

0.269DataRank · unranked

5 citations

Francis Rossignol, Monique B. Perry, Michael A. Kayser, Pim Suwannarat, Kevin E. O'Brien +6 more

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70042

N/A

0.165DataRank · unranked

2 citations

Vibha Chandrasekar, Irene J. Castillo, Dat Duong, Carlos R. Ferreira, Suzanna Ledgister Hanchard +6 more

Aortic distensibility in alkaptonuria

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.05.006

N/A

0.165DataRank · unranked

2 citations

W. Patricia Bandettini, Sujata M. Shanbhag, Jeannie Yu, Kevin O’Brien, William A. Gahl +3 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

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

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

Impairment of Renal Function in Hermansky-Pudlak Syndrome

American Journal of Nephrology(2024)10.1159/000541835

N/A

0DataRank · unranked

4 citations

Kevin O’Brien, Tesiya M Franklin, Ben Long G. Zuo, Mei Xing G Zuo, Melissa A. Merideth +3 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

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

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

Diffusion tensor imaging in Chediak Higashi Disease

medRxiv(2025)10.1101/2025.08.06.25332949

N/A

0DataRank · unranked

0 citations

Selby I. Chipman, Cynthia J. Tifft, Camilo Toro, William A. Gahl, Maria T. Acosta +2 more

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109251

N/A

0DataRank · unranked

0 citations

Kristen S. Pan, Monique B. Perry, Joy Bryant, Kevin O’Brien, Irene J. Castillo +7 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

Growth Standards for Children With Smith–Magenis Syndrome ( SMS )

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64167

N/A

0DataRank · unranked

0 citations

John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard +6 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

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63049

N/A

0DataRank · unranked

13 citations

Leah Fleming, Anna Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte +12 more