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Reversade, Bruno
336  results:
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1

P272: Novel biallelic missense variants in C2orf69 cause co..:

Oh, Youjin ; Yoon, Grace ; Maier, Michael...
Genetics in Medicine Open.  2 (2024)  - p. 101168 , 2024
Link: https://doi.org/10.1016/..
 
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2

SMCHD1 has separable roles in chromatin architecture and ge..:

Tapia del Fierro, Andres ; den Hamer, Bianca ; Benetti, Natalia...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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3

Inactivation of DRG1, encoding a translation factor GTPase,..:

Westrip, Christian A.E. ; Paul, Franziska ; Al-Murshedi, Fathiya...
Genetics in Medicine.  25 (2023)  9 - p. 100893 , 2023
Link: https://doi.org/10.1016/..
 
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4

A progeroid syndrome caused by a deep intronic variant inTA..:

Nabavizadeh, Nasrinsadat ; Bressin, Annkatrin ; Shboul, Mohammad...
EMBO Molecular Medicine.  15 (2023)  2 - p. , 2023
Link: https://doi.org/10.15252..
 
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5

RAF1 deficiency causes a lethal syndrome that underscores R..:

Wong, Samantha ; Tan, Yu Xuan ; Loh, Abigail Yi Ting...
EMBO Molecular Medicine.  15 (2023)  5 - p. , 2023
Link: https://doi.org/10.15252..
 
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6

The Opto-inflammasome in zebrafish as a tool to study cell ..:

Hasel de Carvalho, Eva ; Dharmadhikari, Shivani S ; Shkarina, Kateryna...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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7

In skeletal muscle and neural crest cells, SMCHD1 regulates..:

Laberthonnière, Camille ; Delourme, Mégane ; Chevalier, Raphaël...
Nucleic Acids Research.  51 (2023)  14 - p. 7269-7287 , 2023
Link: https://doi.org/10.1093/..
 
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8

Deep transcriptome profiling reveals limited conservation o..:

Nguyen, Tram Anh ; Heng, Jia Wei Joel ; Ng, Yan Ting...
BMC Biology.  21 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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9

Functional analysis of germline VANGL2 variants using rescu..:

Derrick, Christopher J ; Szenker-Ravi, Emmanuelle ; Santos-Ledo, Adrian...
Human Molecular Genetics.  33 (2023)  2 - p. 150-169 , 2023
Link: https://doi.org/10.1093/..
 
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10

A homozygous p.Leu813Pro gain-of-function NLRP1 variant cau..:

Li, Mingfeng ; Lay, Kenneth ; Zimmer, Andreas...
British Journal of Dermatology.  188 (2022)  2 - p. 259-267 , 2022
Link: https://doi.org/10.1093/..
 
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11

Omics profiling identifies the regulatory functions of the ..:

Kwon, Hyuk Nam ; Kurtzeborn, Kristen ; Iaroshenko, Vladislav...
Development.  149 (2022)  19 - p. , 2022
Link: https://doi.org/10.1242/..
 
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12

Publisher Correction: Somatic genetic rescue of a germline ..:

Tan, Shengjiang ; Kermasson, Laëtitia ; Hilcenko, Christine...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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13

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsuf..:

Xue, Shifeng ; Ly, Thanh Thao Nguyen ; Vijayakar, Raunak S....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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14

Leveraging interacting signaling pathways to robustly impro..:

Raggi, Claudia ; M'Callum, Marie-Agnès ; Pham, Quang Toan...
Stem Cell Reports.  17 (2022)  3 - p. 584-598 , 2022
Link: https://doi.org/10.1016/..
 
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15

Author Correction: Mutations in PYCR1 cause cutis laxa with..:

Reversade, Bruno ; Escande-Beillard, Nathalie ; Dimopoulou, Aikaterini...
Nature Genetics.  54 (2022)  2 - p. 213-213 , 2022
Link: https://doi.org/10.1038/..
 
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