Ghent University Academic Bibliography

Your filters: cql: author="Pan-Hammarström, Qiang" or (type any "bookEditor issueEditor" and editor="Pan-Hammarström...

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- Journal Article
- A1
- open access
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2025) JOURNAL OF EXPERIMENTAL MEDICINE. 222(5).
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- Journal Article
- A1
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Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

Lili Hu, Renee M. van der Sluis, Kennith Brian Castelino, Bao-Cun Zhang, Andreas Ronit, Thomas Zillinger, Marvin Werner, Sofie Eg Jørgensen, Anne Louise Hansen, Alice Pedersen, et al.

(2025) NATURE COMMUNICATIONS. 16(1).
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- Miscellaneous
- open access
ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2024) MEDRXIV.
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- Journal Article
- A1
- open access
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Yi-Hao Chan, Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci, Stefano Volpi, Koji Nakajima, Vincent Bondet, Sanna Åkesson, et al.

(2024) JOURNAL OF EXPERIMENTAL MEDICINE. 221(9).
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- Journal Article
- A1
- open access
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Takaki Asano, et al.

(2024) JOURNAL OF EXPERIMENTAL MEDICINE. 221(2).
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- Conference Paper
- C3
Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway

Kathleen Claes (UGent) , Lynn Backers, Elien Beyls (UGent) , Evi Duthoo (UGent) , Bram Parton (UGent) , Veronique Debacker (UGent) , Kim De Leeneer (UGent) , Marieke De Bruyne (UGent) , Levi Hoste (UGent) , Ans Baeyens (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1549-1550
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- Journal Article
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Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, et al.

(2024) JOURNAL OF EXPERIMENTAL MEDICINE. 221(12).
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Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Stuart G. Tangye, Laurent Abel, Salah Al-Muhsen, Alessandro Aiuti, Saleh Al-Muhsen, Fahd Al-Mulla, Mark S. Anderson, Evangelos Andreakos, Antonio Novelli, Andrés A. Arias, et al.

(2023) JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 151(4). p.818-831
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- Journal Article
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Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Rémi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, et al.

(2023) SCIENCE. 379(6632).
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Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M. Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, et al.

(2023) JOURNAL OF EXPERIMENTAL MEDICINE. 220(5).

Academic Bibliography

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

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