K. O'Brien

发表

Aortic distensibility in alkaptonuria.

W. Gahl, Marcus Y. Chen, S. Shanbhag, 2020, Molecular genetics and metabolism.

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.

Kevin J. O'Brien, W. Gahl, M. Huizing, 2014, American journal of respiratory cell and molecular biology.

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim–Chester Disease

Kevin J. O'Brien, E. Jaffe, Jianhua Yao, 2018, Journal of clinical medicine.

CB1R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome

M. R. Iyer, Kevin J. O'Brien, W. Gahl, 2021, Clinical and translational medicine.

Hermansky–Pudlak syndrome: Mutation update

W. Gahl, M. Huizing, H. Pri-Chen, 2020, Human mutation.

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.

J. Troendle, Jianhua Yao, W. Gahl, 2011, Molecular genetics and metabolism.

Natural killer cell activity and dysfunction in Hermansky‐Pudlak syndrome

Kevin J. O'Brien, J. Coligan, W. Gahl, 2017, British journal of haematology.

Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis

G. Bandara, W. Gahl, K. Stone, 2016, PLoS ONE.

Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study

W. Gahl, M. Malicdan, M. Merideth, 2021, Journal of internal medicine.

Novel mutations in the HPS1 gene among Puerto Rican patients

J. White, M. Huizing, G. Golas, 2011, Clinical genetics.

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Kevin J. O'Brien, D. Adams, W. Gahl, 2019, Orphanet Journal of Rare Diseases.

Clinical, molecular and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent

Kevin J. O'Brien, W. Gahl, M. Huizing, 2011, The Journal of investigative dermatology.

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

W. Gahl, M. Huizing, G. Golas, 2009, Molecular genetics and metabolism.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant

Ellen F. Macnamara, W. Gahl, M. Malicdan, 2018, American journal of medical genetics. Part A.

Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

J. White, W. Gahl, W. Westbroek, 2009, Journal of Medical Genetics.

Hermansky–Pudlak syndrome in two African‐American brothers

Kevin J. O'Brien, W. Gahl, M. Huizing, 2009, American journal of medical genetics. Part A.

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Leslie G. Biesecker, Marjan Huizing, William L. Nyhan, 2011, Nature genetics.

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

D. Adams, W. Gahl, J. Stephen, 2017, PloS one.

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Carla Ciccone, William A. Gahl, Marjan Huizing, 2011, The Journal of investigative dermatology.

The Immunome in Two Inherited Forms of Pulmonary Fibrosis

Yuri Kotliarov, Angélique Biancotto, William A. Gahl, 2018, Front. Immunol..

The clinical spectrum of Erdheim-Chester disease: an observational cohort study.

E. Jaffe, M. Raffeld, O. Abdel-Wahab, 2017, Blood advances.

Association of BRAF V600E with Hypothalamic-Pituitary-Adrenal Axis Involvement in Erdheim-Chester Disease

Kevin J. O'Brien, W. Gahl, A. Tirosh, 2020 .

Internet-of-Things Devices in Support of the Development of Echoic Skills among Children with Autism Spectrum Disorder

Saikou Y. Diallo, Krzysztof J. Rechowicz, John B. Shull, 2021, Sensors.

Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens

Kevin J. O'Brien, S. Nathan, M. Malicdan, 2021, Frontiers in Medicine.

Aortic stenosis and vascular calcifications in alkaptonuria.

W. Gahl, Marcus Y. Chen, V. Sachdev, 2012, Molecular genetics and metabolism.

PIRFENIDONE FOR TREATMENT OF PULMONARY FIBROSIS IN HERMANSKY-PUDLAK SYNDROME-1

W. Gahl, T. Markello, B. Gochuico, 2008 .

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

Adrian Barbu, W. Gahl, M. Merideth, 2018, Molecular genetics and metabolism.

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation

W. Gahl, S. Nathan, I. Rosas, 2018, PloS one.

Genetic variants associated with Hermansky-Pudlak syndrome

Kevin J. O'Brien, M. Huizing, M. Merideth, 2020, Platelets.

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

J. Mullikin, W. Gahl, W. Zein, 2016, Molecular genetics and metabolism.

Neurological manifestations of Erdheim–Chester Disease

Kevin J. O'Brien, C. Toro, W. Gahl, 2020, Annals of clinical and translational neurology.

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation

Kevin J. O'Brien, W. Gahl, Lauren J. Kim, 2018, European Radiology.

Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation

W. Gahl, A. Malayeri, R. Symons, 2018, European Radiology.

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.

J. Troendle, Jianhua Yao, W. Gahl, 2011, Molecular genetics and metabolism.