Wendy J. Introne - Publications, H-index & Citations

Wendy J. Introne

johns hopkins bloomberg school of public health

28H指数

123论文数

4.2K被引数

收录论文 43

发表时间

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria 一种用于评估黑酸尿症疾病进展的放射学椎体严重程度评分的开发

Molecular Genetics and Metabolism

IF3.5

2025-10-02

PREAI

Francis Rossignol; Kristen S. Pan; Monique B. Perry; Joy C. Bryant; Kevin J. O'Brien; Irene J. Castillo; Kathryn R. Spears; Carlos R. Ferreira; Mark D. Murphey; Matthew J. Minn; William A. Gahl; Wendy J. Introne

Growth Standards for Children With Smith-Magenis Syndrome (SMS)Smith-magenis综合征 (SMS) 儿童的生长标准

American Journal of Medical Genetics Part A

IF1.7

2025-10-01

OAAI

Hoover-Fong, Julie; McGready, John; Fleming, Leah; Schulze, Kerry; Duncan, Folami; Leonard, Alexis; Boucard, Marie Christine de Blois; Moretti-Ferreira, Danilo; Gropman, Andrea L.; Introne, Wendy J.; Smith, Ann C. M.

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model 从尿细胞外囊泡蛋白质组学和一种新的小鼠模型洞察hermansky-pudlak综合征-1的肾脏病理生理学

FEBS LETTERS

IF3

2024-12-30

PREAI

Maynard, Dawn M.; Gochuico, Bernadette R.; Chen, Hadass Pri; Bleck, Christopher K. E.; Zerfas, Patricia M.; Introne, Wendy J.; Gahl, William A.; Malicdan, May C. V.

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

JCI INSIGHT

IF6.1

2024-11-22

OAAI

Sorkhdini, Parand; Klubock-Shukla, Kiran; Sheth, Selena; Yang, Dongqin; Yang, Alina Xiaoyu; Norbrun, Carmelissa; Introne, Wendy J.; Gochuico, Bernadette R.; Zhou, Yang

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

EUROPEAN RESPIRATORY JOURNAL

IF21

2024-10-30

PREAI

Cinar, Resat; Basu, Abhishek; Arif, Muhammad; Park, Joshua; Zawatsky, Charles; Zuo, Ben Long; Zuo, Mei Xing; O'Brien, Kevin; Behan, Molly; Introne, Wendy; Iyer, Malliga; Gahl, William; Malicdan, May Christine; Gochuico, Bernadette

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

HUMAN GENETICS

IF3.6

2024-10-25

OAAI

Sharma, Prashant; McFadden, Jason R.; Frost, F. Graeme; Markello, Thomas C.; Grange, Dorothy K.; Introne, Wendy J.; Gahl, William A.; Malicdan, May Christine V.

Impairment of Renal Function in Hermansky-Pudlak Syndrome

AMERICAN JOURNAL OF NEPHROLOGY

IF3.2

2024-10-09

PREAI

Yokoyama, Tadafumi; O'Brien, Kevin J.; Franklin, Tesiya M.; Zuo, Ben Long G.; Zuo, Mei Xing G.; Merideth, Melissa A.; Introne, Wendy J.; Gochuico, Bernadette R.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-09-01

PREAI

Spears, Kathryn R.; Rossignol, Francis; Perry, Monique B.; Kayser, Michael A.; Suwannarat, Pim; O'Brien, Kevin E.; Bryant, Joy C.; Greenwood, Wendy F.; Fuller, Steve; Gahl, William A.; Introne, Wendy J.

Alkaptonuria

NATURE REVIEWS DISEASE PRIMERS

IF60.6

2024-03-07

PREAI

Bernardini, Giulia; Braconi, Daniela; Zatkova, Andrea; Sireau, Nick; Kujawa, Mariusz J.; Introne, Wendy J.; Spiga, Ottavia; Geminiani, Michela; Gallagher, James A.; Ranganath, Lakshminarayan R.; Santucci, Annalisa

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

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-10-03

PREAI

Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C.; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R.; Gallin, John, I; Holland, Steven M.; Rosenzweig, Sergio D.; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A.; Introne, Wendy J.; Malicdan, May Christine, V

Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective

NEURAL REGENERATION RESEARCH

IF6.7

2023-09-22

OAAI

Sharma, Prashant; Serra-Vinardell, Jenny; Introne, Wendy J.; Malicdan, May Christine V.

Chediak-Higashi syndrome

CURRENT OPINION IN HEMATOLOGY

IF2.9

2023-04-25

PREAI

Talbert, Mackenzie L.; Malicdana, May Christine, V; Intronea, Wendy J.

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size (vol 80, 53, 2023)

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2023-03-04

OAAI

Serra-Vinardell, Jenny; Sandler, Maxwell B.; De Pace, Raffaella; Manzella-Lapeira, Javier; Cougnoux, Antony; Keyvanfar, Keyvan; Introne, Wendy J.; Brzostowski, Joseph A.; Ward, Michael E.; Gahl, William A.; Sharma, Prashant; Malicdan, May Christine V.

ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIENT WITH CHRONIC KIDNEY DISEASE

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-03-01

PREAI

Jang, Jessica; Introne, Wendy; Rossignol, Francis; Gahl, William

AORTIC VALVULAR DISEASE IN ADULTS WITH ALKAPTONURIA

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-03-01

PREAI

Jerves, Teodoro; Rossignol, Francis; Chen, Marcus; Sachdev, Vandana; Introne, Wendy

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

OPHTHALMOLOGY SCIENCE

IF4.6

2023-03-01

OAAI

Malechka, Volha V.; Duong, Dat; Bordonada, Keyla D.; Turriff, Amy; Blain, Delphine; Murphy, Elizabeth; Introne, Wendy J.; Gochuico, Bernadette R.; Adams, David R.; Zein, Wadih M.; Brooks, Brian P.; Huryn, Laryssa A.; Solomon, Benjamin D.; Hufnagel, Robert B.

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size LYST缺乏会损害神经元中自噬溶酶体的重新形成，并改变溶酶体的数量和大小

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2023-01-28

PREAI

Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study Hermansky-pudlak综合征中的炎症性肠病: 一项回顾性单中心队列研究

JOURNAL OF INTERNAL MEDICINE

IF9.2

2021-01-10

PREAI

O'Brien, K. J.; Parisi, X.; Shelman, N. R.; Merideth, M. A.; Introne, W. J.; Heller, T.; Gahl, W. A.; Malicdan, M. C. V.; Gochuico, B. R.

Aortic distensibility in alkaptonuria

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-08-01

PREAI

Thimmapuram, Rashmi; Bandettini, W. Patricia; Shanbhag, Sujata M.; Yu, Jeannie H.; O'Brien, Kevin J.; Gahl, William A.; Introne, Wendy J.; Chen, Marcus Y.

Health Care Supervision for Children With Williams Syndrome

PEDIATRICS

IF6.4

2020-02-01

OAAI

Morris, Colleen A.; Braddock, Stephen R.; Chen, Emily; Trotter, Tracy L.; Berry, Susan A.; Burke, Leah W.; Geleske, Timothy A.; Hamid, Rizwan; Hopkin, Robert J.; Introne, Wendy J.; Lyons, Michael J.; Scheuerle, Angela E.; Stoler, Joan M.

研究方向