arrow
返回
J

John J. DiGiovanna

national institutes of health (nih) - usa

65H指数
242论文数
2.0W被引数
收录论文 106
发表时间
RNA lariat debranching enzyme (DBR1) variations in Sabinas brittle hair syndrome form of trichothiodystrophy (TTD): A TTD causing geneRNA套索脱枝酶(DBR1)在萨比纳脆发综合征形式的发硫营养不良(TTD)中的变异:一个导致TTD的基因
err2025-07-17
err0
PREAI
errSikandar G. Khan; Wenelia Baghoomian; Christiane Kuschal-Tauzon; Deborah Tamura; Maxwell P. Lee; John J. DiGiovanna; Rodrigo Cepeda-Valdes; Julio Salas-Alanis; Kenneth H. Kraemer
err分享
err收藏
Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients
err2024-12-02
err0
errOAAI
errSagun, Jeffrey P.; Khan, Sikandar G.; Imoto, Kyoko; Tamura, Deborah; Oh, Kyu-Seon; Digiovanna, John J.; Kraemer, Kenneth H.
err分享
err收藏
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers
err2023-10-25
err2
errOAAI
errFernandez, Elvelyn R.; Tamura, Deborah; Khan, Sikandar G.; Momen, Sophie; Fassihi, Hiva; Sarkany, Robert; Digiovanna, John J.; Kraemer, Kenneth H.
err分享
err收藏
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
err2023-10-02
err12
errOAAI
errMcdermott, David H.; Velez, Daniel; Cho, Elena; Cowen, Edward W.; Digiovanna, John J.; Pastrana, Diana V.; Buck, Christopher B.; Calvo, Katherine R.; Gardner, Pamela J.; Rosenzweig, Sergio D.; Stratton, Pamela; Merideth, Melissa A.; Kim, H. Jeffrey; Brewer, Carmen; Katz, James D.; Kuhns, Douglas B.; Malech, Harry L.; Follmann, Dean; Fay, Michael P.; Murphy, Philip M.
err分享
err收藏
Trichothiodystrophy hair shafts display distinct ultrastructural features
err2022-06-13
err1
errOAAI
errIoannidis, Angeliki-Diotima; Khan, Sikandar G.; Tamura, Deborah; DiGiovanna, John J.; Rizza, Elizabeth; Kraemer, Kenneth H.; Rice, Robert H.
err分享
err收藏
PDXNet portal: patient-derived Xenograft model, data, workflow and tool discoveryPDXNet门户: 患者衍生的异种移植模型,数据,工作流程和工具发现
err2022-04-22
err10
errOAAI
errKoc, Soner; Lloyd, Michael W.; Grover, Jeffrey W.; Xiao, Nan; Seepo, Sara; Subramanian, Sai Lakshmi; Ray, Manisha; Frech, Christian; DiGiovanna, John; Webster, Phillip; Neuhauser, Steven; Srivastava, Anuj; Woo, Xing Yi; Sanderson, Brian J.; White, Brian; Lott, Paul; Dobrolecki, Lacey E.; Dowst, Heidi; Evrard, Yvonne A.; Wallace, Tiffany A.; Moscow, Jeffrey A.; Doroshow, James H.; Mitsiades, Nicholas; Kaochar, Salma; Pan, Chong-xian; Chen, Moon S.; Carvajal-Carmona, Luis; Welm, Alana L.; Welm, Bryan E.; Lewis, Michael T.; Govindan, Ramaswamy; Ding, Li; Li, Shunqiang; Herlyn, Meenhard; Davies, Michael A.; Roth, Jack; Meric-Bernstam, Funda; Robinson, Peter N.; Bult, Carol J.; Davis-Dusenbery, Brandi; Dean, Dennis A., II; Chuang, Jeffrey H.
err分享
err收藏
Development and Initial Validation of a Novel System to Assess Ichthyosis Severity
err2022-04-01
err5
errOAAI
errSun, Qisi; Asch, Sarah; Bayart, Cheryl; Bayliss, Susan J.; Benjamin, Latanya; Bruckner, Anna; DiGiovanna, John J.; Fleckman, Philip; Funk, Tracy; Lucky, Anne; Nelson, Caroline A.; Newell, Brandon; Polcari, Ingrid; Teng, Joyce; Williams, Mary L.; Gan, Geliang; Deng, Yanhong; Paller, Amy S.; Choate, Keith A.
err分享
err收藏
Knowledge is power
err2022-03-30
err0
PREAI
errDiGiovanna, John J.; Kraemer, Kenneth H.
err分享
err收藏
Executive summary: Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
err2022-01-01
err2
errOAAI
errZaenglein, Andrea L.; Levy, Moise L.; Stefanko, Nicole S.; Benjamin, Latanya T.; Bruckner, Anna L.; Choate, Keith; Craiglow, Brittany G.; DiGiovanna, John J.; Eichenfield, Lawrence F.; Elias, Peter; Fleck-Man, Philip; Lawley, Leslie P.; Lewis, Richard A.; Lucky, Anne W.; Mathes, Erin F.; Milstone, Leonard M.; Paller, Amy S.; Patel, Sonali S.; Siegel, Dawn H.; Teng, Joyce; Tanumihardjo, Sherry A.; Thaxton, Lauren; Williams, Mary L.
err分享
err收藏
Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap
err2021-10-01
err5
errOAAI
errAbiona, Adesoji; Cordeiro, Nuno; Fawcett, Heather; Tamura, Deborah; Khan, Sikandar G.; DiGiovanna, John J.; Lehmann, Alan R.; Fassihi, Hiva
err分享
err收藏
Xeroderma Pigmentosum: A Model for Human Premature Aging
err2021-04-01
err28
errOAAI
errRizza, Elizabeth R. H.; DiGiovanna, John J.; Khan, Sikandar G.; Tamura, Deborah; Jeskey, Jack D.; Kraemer, Kenneth H.
err分享
err收藏
Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging
err2020-11-05
err9
errOAAI
errKouatcheu, S. D.; Marko, J.; Tamura, D.; Khan, S. G.; Lee, C. R.; DiGiovanna, J. J.; Kraemer, K. H.
err分享
err收藏
Reproductive Health in Xeroderma Pigmentosum Features of Premature Aging
err2019-10-01
err7
errOAAI
errMerideth, Melissa; Tamura, Deborah; Angra, Divya; Khan, Sikandar G.; Ferrell, Joyln; Goldstein, Alisa M.; DiGiovanna, John J.; Kraemer, Kenneth H.
err分享
err收藏
Deep phenotyping using principal component analysis effectively arrays XPD (ERCC2) xeroderma pigmentosum and trichothiodystrophy patient phenotypes: The XP-TTD coefficient
err2019-09-01
err0
errOAAI
errPugh, J. M.; Nelson, G. W.; Levoska, M. A.; Hanona, P. F.; Tamura, D.; Heller, E. R.; Khan, S. G.; Scheibye-Knudsen, M.; DiGiovanna, J. J.; Kraemer, K. H.
err分享
err收藏
Predisposition to hematologic malignancies in patients with xeroderma pigmentosum
err2019-08-22
err19
errOAAI
errOetjen, Karolyn A.; Levoska, Melissa A.; Tamura, Deborah; Ito, Sawa; Douglas, Dorothea; Khan, Sikandar G.; Calvo, Katherine R.; Kraemer, Kenneth H.; DiGiovanna, John J.
err分享
err收藏
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population
err2019-01-01
err14
errOAAI
errPugh, Jennifer; Khan, Sikandar G.; Tamura, Deborah; Goldstein, Alisa M.; Landi, Maria Teresa; DiGiovanna, John J.; Kraemer, Kenneth H.
err分享
err收藏
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
err2018-06-11
err366
errOAAI
errSanchez, Gina A. Montealegre; Reinhardt, Adam; Ramsey, Suzanne; Wittkowski, Helmut; Hashkes, Philip J.; Berkun, Yackov; Schalm, Susanne; Murias, Sara; Dare, Jason A.; Brown, Diane; Stone, Deborah L.; Gao, Ling; Klausmeier, Thomas; Foell, Dirk; De Jesus, Adriana A.; Chapelle, Dawn C.; Kim, Hanna; Dill, Samantha; Colbert, Robert A.; Failla, Laura; Kost, Bahar; O'Brien, Michelle; Reynolds, James C.; Folio, Les R.; Calvo, Katherine R.; Paul, Scott M.; Weir, Nargues; Brofferio, Alessandra; Soldatos, Ariane; Biancotto, Angelique; Cowen, Edward W.; Digiovanna, John J.; Gadina, Massimo; Lipton, Andrew J.; Hadigan, Colleen; Holland, Steven M.; Fontana, Joseph; Alawad, Ahmad S.; Brown, Rebecca J.; Rother, Kristina I.; Heller, Theo; Brooks, Kristina M.; Kumar, Parag; Brooks, Stephen R.; Waldman, Meryl; Singh, Harsharan K.; Nickeleit, Volker; Silk, Maria; Prakash, Apurva; Janes, Jonathan M.; Ozen, Seza; Wakim, Paul G.; Brogan, Paul A.; Macias, William L.; Goldbach-Mansky, Raphaela
err分享
err收藏
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
err2018-06-01
err14
errOAAI
errShanbhag, Niraj M.; Geschwind, Michael D.; DiGiovanna, John J.; Groden, Catherine; Godfrey, Rena; Yousefzadeh, Matthew J.; Wade, Erin A.; Niedernhofer, Laura J.; Malicdan, May Christine V.; Kraemer, Kenneth H.; Gahl, William A.; Toro, Camilo
err分享
err收藏
Mixed phenotype acute leukemia in xeroderma pigmentosum
err2018-05-01
err0
errOAAI
errLevoska, M.; Tamura, D.; Ito, S.; Calvo, K.; Douglas, D. N.; Oetjen, K.; Khan, S. G.; Kraemer, K. H.; DiGiovanna, J. J.
err分享
err收藏
Hematologic abnormalities in trichothiodystrophy
err2018-05-01
err0
errOAAI
errRandall, G.; Oetjen, K.; Pugh, J.; Levoska, M.; Khan, S. G.; Tamura, D.; DiGiovanna, J. J.; Kraemer, K. H.
err分享
err收藏