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Revy, Patrick
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1

Characterization of novel mutations in the TEL-patch domain..:

Bertrand, Alexis ; Ba, Ibrahima ; Kermasson, Laëtitia...
Human Molecular Genetics.  , 2024
Link: https://doi.org/10.1093/..
 
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2

DCLRE1B/Apollo germline mutations associated with renal cel..:

Bories, Charlie ; Lejour, Thomas ; Adolphe, Florine...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1870 (2024)  4 - p. 167107 , 2024
Link: https://doi.org/10.1016/..
 
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3

Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 an..:

Schertzer, Michael ; Jullien, Laurent ; Pinto, André L....
Cells.  12 (2023)  24 - p. 2798 , 2023
Link: https://doi.org/10.3390/..
 
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4

Gain-of-function mutations in RPA1 cause a syndrome with sh..:

Sharma, Richa ; Sahoo, Sushree S. ; Honda, Masayoshi...
Blood.  139 (2022)  7 - p. 1039-1051 , 2022
Link: https://doi.org/10.1182/..
 
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5

Human anti-smallpox long-lived memory B cells are defined b..:

Chappert, Pascal ; Huetz, François ; Espinasse, Marie-Alix...
Immunity.  55 (2022)  10 - p. 1872-1890.e9 , 2022
Link: https://doi.org/10.1016/..
 
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6

Inherited human Apollo deficiency causes severe bone marrow..:

Kermasson, Laëtitia ; Churikov, Dmitri ; Awad, Aya...
Blood.  139 (2022)  16 - p. 2427-2440 , 2022
Link: https://doi.org/10.1182/..
 
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7

Replication stress triggered by nucleotide pool imbalance d..:

Donne, Romain ; Saroul-Ainama, Maëva ; Cordier, Pierre...
Developmental Cell.  57 (2022)  14 - p. 1728-1741.e6 , 2022
Link: https://doi.org/10.1016/..
 
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8

Genetics of human telomere biology disorders:

Revy, Patrick ; Kannengiesser, Caroline ; Bertuch, Alison A.
Nature Reviews Genetics.  24 (2022)  2 - p. 86-108 , 2022
Link: https://doi.org/10.1038/..
 
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9

A Disease-Causing Single Amino Acid Deletion in the Coiled-..:

Chansel-Da Cruz, Marie ; Hohl, Marcel ; Ceppi, Ilaria...
Cell Reports.  33 (2020)  13 - p. 108559 , 2020
Link: https://doi.org/10.1016/..
 
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10

NHP2 deficiency impairs rRNA biogenesis and causes pulmonar..:

Revy, Patrick ; Kannengiesser, Caroline ; Callebaut, Isabelle...
Human Molecular Genetics.  29 (2020)  6 - p. 907-922 , 2020
Link: https://doi.org/10.1093/..
 
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11

Full length RTEL1 is required for the elongation of the sin..:

Tzfati, Yehuda ; Revy, Patrick ; Smoom, Riham...
Nucleic Acids Research.  , 2020
Link: https://doi.org/10.1093/..
 
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12

Myelodysplastic syndromes and idiopathic pulmonary fibrosis..:

Papiris, Spyros A. ; Tsirigotis, Panagiotis ; Kannengiesser, Caroline...
Respiratory Research.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

Defects in t6A tRNA modification due to GON7 and YRDC mutat..:

Arrondel, Christelle ; Missoury, Sophia ; Snoek, Rozemarijn...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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14

PROMIDISα: A T-cell receptor α signature associated with im..:

Berland, Aurélie ; Rosain, Jérémie ; Kaltenbach, Sophie...
Journal of Allergy and Clinical Immunology.  143 (2019)  1 - p. 325-334.e2 , 2019
Link: https://doi.org/10.1016/..
 
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15

FRI-292-Liver polyploidization during NAFLD: A gatekeeper a..:

Donne, Romain ; Saroul, Maeva ; Herrag, Mounia...
Journal of Hepatology.  70 (2019)  1 - p. e523-e524 , 2019
Link: https://doi.org/10.1016/..
 
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