Bernadette R. Gochuico

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 24 papers. Top paper: “Neurological manifestations of Erdheim–Chester Disease”.

Neurological manifestations of Erdheim–Chester Disease

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51014

N/A

0.574DataRank · unranked

45 citations

Kevin O’Brien, Neval Özkaya, Tanya Lehky, Avner Meoded, Bernadette R. Gochuico +7 more

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

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

Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities

Journal of Medical Genetics(2023)10.1136/jmg-2022-109009

N/A

0.395DataRank · unranked

10 citations

Mahin Hossain, Sara Talvacchio, Mei Xing G Zuo, Mark Barton, An Dang +2 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Cancers(2021)10.3390/cancers13164126

N/A

0DataRank · unranked

11 citations

Jorge A. Irizarry‐Caro, Ninet Sinaii, William A. Gahl, Juvianee Estrada‐Veras, Rahul Dave +7 more

Survivorship Issues in Adult Patients With Histiocytic Neoplasms

Journal of the National Comprehensive Cancer Network(2021)10.6004/jnccn.2021.7096

N/A

0DataRank · unranked

3 citations

Rahul Dave, Skand Shekhar, Fady Hannah‐Shmouni, Leora E. Comis, Beth Solomon +6 more

A Mixed Blood-Lymphatic Endothelial Cell Phenotype in Lymphangioleiomyomatosis and Idiopathic Pulmonary Fibrosis but Not in Kaposi’s Sarcoma or Tuberous Sclerosis Complex

American Journal of Respiratory Cell and Molecular Biology(2022)10.1165/rcmb.2021-0293le

N/A

0DataRank · unranked

5 citations

Connie G. Glasgow, Yoshihiko Ikeda, Wendy K. Steagall, Zu-Xi Yu, Katsuya Tsukada +10 more

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

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

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0DataRank · unranked

6 citations

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

An Integrative Multiomics Framework for Identification of Therapeutic Targets in Pulmonary Fibrosis

Advanced Science(2023)10.1002/advs.202207454

N/A

0DataRank · unranked

24 citations

Abhishek Basu, Kaelin M. Wolf, Joshua K. Park, Lenny Pommerolle, Madeline Behee +3 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 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

Elevated blood anandamide levels in acute COVID-19 pneumonia with respiratory failure

The American Journal of the Medical Sciences(2025)10.1016/j.amjms.2025.06.003

N/A

0DataRank · unranked

3 citations

Lenny Pommerolle, Muhammad Arif, Angelo Y. Meliton, Inemesit A. Udofia, David Wu +7 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

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

Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease

JAMA Network Open(2020)10.1001/jamanetworkopen.2020.19169

N/A

0DataRank · unranked

10 citations

Ninet Sinaii, Jorge A. Irizarry‐Caro, William A. Gahl, Juvianee Estrada‐Veras, Rahul Dave +9 more

Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease

European Respiratory Review(2021)10.1183/16000617.0193-2020

N/A

0DataRank · unranked

54 citations

Bernadette R. Gochuico, Tadafumi Yokoyama

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

Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung

Respiratory Research(2021)10.1186/s12931-021-01640-z

N/A

0DataRank · unranked

15 citations

Willy Roque, Hoora Shaghaghi, Bernadette R. Gochuico, Iván O. Rosas, Ross Summer +2 more