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Cogné, Benjamin
420  results:
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1

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine.  26 (2024)  4 - p. 101057 , 2024
Link: https://doi.org/10.1016/..
 
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2

P428: De novo truncating variants in ZNF865: A putative cau..:

Bradbrook, Sam ; Graham, Gail ; Carter, Melissa...
Genetics in Medicine Open.  2 (2024)  - p. 101322 , 2024
Link: https://doi.org/10.1016/..
 
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3

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance.  7 (2024)  3 - p. e202302258 , 2024
Link: https://doi.org/10.26508..
 
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4

Heterozygous loss-of-function variants in DOCK4 cause neuro..:

Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret...
Human Genetics.  143 (2024)  3 - p. 455-469 , 2024
Link: https://doi.org/10.1007/..
 
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5

Purplish granules as a cytological signature of cortical de..:

Le Calvez, Baptiste ; Besnard, Thomas ; Cogne, Benjamin...
American Journal of Hematology.  , 2024
Link: https://doi.org/10.1002/..
 
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6

De novo variants predicting haploinsufficiency for DIP2C ar..:

Ha, Thoa ; Morgan, Angela ; Bartos, Meghan N....
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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7

PSMD11 loss-of-function variants correlate with a neurobeha..:

Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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8

Penetrance, variable expressivity and monogenic neurodevelo..:

de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde...
European Journal of Medical Genetics.  69 (2024)  - p. 104932 , 2024
Link: https://doi.org/10.1016/..
 
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9

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics.  31 (2023)  10 - p. 1117-1124 , 2023
Link: https://doi.org/10.1038/..
 
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10

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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11

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine.  25 (2023)  1 - p. 76-89 , 2023
Link: https://doi.org/10.1016/..
 
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12

CAMTA1‐related disorder: Phenotypic and molecular character..:

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren...
Clinical Genetics.  , 2023
Link: https://doi.org/10.1111/..
 
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13

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics.  110 (2023)  5 - p. 774-789 , 2023
Link: https://doi.org/10.1016/..
 
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14

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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15

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine.  25 (2023)  11 - p. 100950 , 2023
Link: https://doi.org/10.1016/..
 
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