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Author/Creator Jani, Priyam

2. DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. Issue 3 (25th January 2021)

Authors:
Prasov, Lev; Bohnsack, Brenda L; El Husny, Antonette S; Tsoi, Lam C; Guan, Bin; Kahlenberg, J Michelle; Almeida, Edmundo; Wang, Haitao; Cowen, Edward W; De Jesus, Adriana A; Jani, Priyam; Billi, Allison C; Moroi, Sayoko E; Wasikowski, Rachael; Almeida, Izabela; Almeida, Luciana N; Kok, Fernando; ...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 3(2022)
Page Start:
294
Record Type:
Journal Article
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5. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Issue 10 (22nd July 2022)

Authors:
Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Mar...
Other Names:
author non-byline.; Acosta Maria T. author non-byline.; Adam Margaret author non-byline.; Adams David R. author non-byline.; Alvey Justin author non-byline.; Amendola Laura author non-byline.; Andrews Ashley author non-byline.; Ashley Euan A. author non-byline.; Azamian Mahshid S. author non-byl...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 81:Issue 10(2022)
Page Start:
1453
Record Type:
Journal Article
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6. Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method. Issue 10 (16th December 2021)

Authors:
Almpani, Konstantinia; Liberton, Denise K.; Jani, Priyam; Keyvanfar, Cyrus; Mishra, Rashmi; Curry, Natasha; Orzechowski, Pamela; Frischmeyer-Guerrerio, Pamela A.; Lee, Janice S.
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
938
Record Type:
Journal Article
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7. Role of the NH2‐terminal fragment of dentin sialophosphoprotein in dentinogenesis. (7th February 2013)

Authors:
Gibson, Monica P.; Liu, Qilin; Zhu, Qinglin; Lu, Yongbo; Jani, Priyam; Wang, Xiaofang; Liu, Ying; Paine, Michael L.; Snead, Malcolm L.; Feng, Jian Q.; Qin, Chunlin
Journal:
European journal of oral sciences
Issue:
Volume 121:Number 2(2013:Apr.)Part 2
Page Start:
76
Record Type:
Journal Article
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8. Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation. Issue 10 (8th March 2020)

Authors:
Jani, Priyam; Nguyen, Quynh C; Almpani, Konstantinia; Keyvanfar, Cyrus; Mishra, Rashmi; Liberton, Denise; Orzechowski, Pamela; Frischmeyer-Guerrerio, Pamela A; Duverger, Olivier; Lee, Janice S
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 10(2020)
Page Start:
699
Record Type:
Journal Article
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9. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. Issue 3 (31st August 2020)

Authors:
Varela, Malena Daich; Jani, Priyam; Zein, Wadih M.; D'Souza, Precilla; Wolfe, Lynne; Chisholm, Jennifer; Zalewski, Christopher; Adams, David; Warner, Blake M.; Huryn, Laryssa A.; Hufnagel, Robert B.
Other Names:
Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 3(2020)
Page Start:
618
Record Type:
Journal Article
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