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Delanne, J.
228  results:
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1

OC18.02: Exome sequencing during pregnancy for fetuses with..:

Bourgon, N. ; Lefebvre, M. ; Bruel, A....
Ultrasound in Obstetrics & Gynecology.  58 (2021)  S1 - p. 52-52 , 2021
Link: https://doi.org/10.1002/..
 
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2

Secondary findings from whole-exome/genome sequencing evalu..:

Delanne, J. ; Nambot, S. ; Chassagne, A....
European Journal of Medical Genetics.  62 (2019)  6 - p. 103529 , 2019
Link: https://doi.org/10.1016/..
 
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3

Early prenatal diagnosis of causative homozygous variants i..:

Favier, Maud ; Delanne, Julian ; Gorincour, Guillaume...
Prenatal Diagnosis.  44 (2024)  3 - p. 352-356 , 2024
Link: https://doi.org/10.1002/..
 
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4

Further description of two individuals with de novo p.(Glu1..:

Malbos, Marlène ; Wakeling, Emma ; Gautier, Thierry...
Clinical Genetics.  105 (2024)  5 - p. 555-560 , 2024
Link: https://doi.org/10.1111/..
 
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5

FOXG1 variants can be associated with milder phenotypes tha..:

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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6

Combining globally search for a regular expression and prin..:

Tran Mau-Them, Frédéric ; Overs, Alexis ; Bruel, Ange-Line...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

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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8

The neurodevelopmental and facial phenotype in individuals ..:

Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique...
European Journal of Human Genetics.  31 (2023)  4 - p. 461-468 , 2023
Link: https://doi.org/10.1038/..
 
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9

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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10

Further clinical and molecular characterization of an XLID ..:

Delanne, Julian ; Lecat, Magaly ; Blackburn, Patrick R....
European Journal of Medical Genetics.  66 (2023)  1 - p. 104670 , 2023
Link: https://doi.org/10.1016/..
 
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11

Prenatal diagnosis by trio exome sequencing in fetuses with..:

Tran Mau-Them, Frédéric ; Delanne, Julian ; Denommé-Pichon, Anne-Sophie...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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12

OMIXCARE: OMICS technologies solved about 33% of the patien..:

Colin, Estelle ; Duffourd, Yannis ; Tisserant, Emilie...
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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13

Copy number variants calling from WES data through eXome hi..:

Tisserant, Emilie ; Vitobello, Antonio ; Callegarin, Davide...
Annals of Human Genetics.  86 (2022)  4 - p. 171-180 , 2022
Link: https://doi.org/10.1111/..
 
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14

Same performance of exome sequencing before and after fetal..:

Bourgon, Nicolas ; Garde, Aurore ; Bruel, Ange-Line...
European Journal of Human Genetics.  30 (2022)  8 - p. 967-975 , 2022
Link: https://doi.org/10.1038/..
 
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15

The diagnostic rate of inherited metabolic disorders by exo..:

Delanne, Julian ; Bruel, Ange-Line ; Huet, Frédéric...
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100812 , 2021
Link: https://doi.org/10.1016/..
 
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