Bernadette R Gochuico (B R Gochuico)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 11

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

American journal of respiratory cell and molecular biology

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Bernadette R Gochuico, Mahin Hossain, Sara K Talvacchio, Mei Xing G Zuo, Mark Barton, An Ngoc Dang Do, Joan C Marini
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)
Gustavo Pacheco-Rodriguez, Connie G Glasgow, Yoshihiko Ikeda, Wendy K Steagall, Zu-Xi Yu, Katsuya Tsukada, Brent W Beasley, Bernadette R Gochuico, Gulsun Erdag, Kathryn Lurain, Michelly Sampaio De Melo, Ramya Ramaswami, Thomas N Darling, Armando Filie, Joel Moss
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 66 (3) (2022)
Skand Shekhar, Jorge A Irizarry-Caro, Ninet Sinaii, William A Gahl, Juvianee I Estrada-Veras, Rahul H Dave, Bernadette R Gochuico, Georgios Z Papadakis, Nicholas Patronas, Constantine A Stratakis, Kevin O'Brien, Fady Hannah-Shmouni
Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease. Cancers 13 (16) (2021)
K J O'Brien, X Parisi, N R Shelman, M A Merideth, W J Introne, T Heller, W A Gahl, M C V Malicdan, Bernadette R Gochuico
Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study. Journal of internal medicine 290 (1) (2021)
David S Yarnell, Joseph C Roney, Cláudia Teixeira, Maria I Freitas, Ana Cipriano, Pedro Leuschner, Konrad Krzewski, Joshi Stephen, Heidi Dorward, William A Gahl, Bernadette R Gochuico, Camilo Toro, May Christine V Malicdan, Wendy J Introne
Diagnosis of Chediak Higashi disease in a 67-year old woman. American journal of medical genetics. Part A 182 (12) (2020)
Melissa A Merideth, Wendy J Introne, Jennifer A Wang, Kevin J O'Brien, Marjan Huizing, Bernadette R Gochuico
Genetic variants associated with Hermansky-Pudlak syndrome. Platelets 31 (4) (2019)
Bradley Power, Carlos R Ferreira, Dong Chen, Wadih M Zein, Kevin J O'Brien, Wendy J Introne, Joshi Stephen, William A Gahl, Marjan Huizing, May Christine V Malicdan, David R Adams, Bernadette R Gochuico
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Orphanet journal of rare diseases 14 (1) (2019)
Sara G Haroutunian, Kevin J O'Brien, Juvianee I Estrada-Veras, Jianhua Yao, Louisa C Boyd, Kavya Mathur, William A Gahl, S Mojdeh Mirmomen, Ashkan A Malayeri, David E Kleiner, Elaine S Jaffe, Bernadette R Gochuico
Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease. Journal of clinical medicine 7 (9) (2018)
Angelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, Amanda M Jones, Catherine Groden, Ellen Macnamara, Tadafumi Yokoyama, William A Gahl, Bernadette R Gochuico, Joel Moss
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. Journal of medical genetics 56 (11) (2018)
Souheil El-Chemaly, Kevin J O'Brien, Steven D Nathan, Gerald L Weinhouse, Hilary J Goldberg, Jean M Connors, Ye Cui, Todd L Astor, Philip C Camp, Ivan O Rosas, Merte Lemma, Vladislav Speransky, Melissa A Merideth, William A Gahl, Bernadette R Gochuico
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. PloS one 13 (3) (2018)
Chen G Han, Kevin J O'Brien, Lea M Coon, Julie A Majerus, Laryssa A Huryn, Sara G Haroutunian, Nagabhishek Moka, Wendy J Introne, Ellen Macnamara, William A Gahl, May Christine V Malicdan, Dong Chen, Koyamangalath Krishnan, Bernadette R Gochuico
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. American journal of medical genetics. Part A 176 (12) (2018)

Bernadette R Gochuico.css-eqlu8i{font-size:small;padding-left:4px;} (B R Gochuico)

Publication Activity (10 Years)

Top Topics

Top Venues

Bernadette R Gochuico (B R Gochuico)