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Calvas, Patrick
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1

ITPR1: The missing gene in miosis–ataxia syndrome?:

Chesneau, Bertrand ; Calvas, Patrick ; Cassagne, Myriam...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Structural Variant Disrupting the Expression of the Remote ..:

Plaisancié, Julie ; Chesneau, Bertrand ; Fares-Taie, Lucas...
International Journal of Molecular Sciences.  25 (2024)  5 - p. 2669 , 2024
Link: https://doi.org/10.3390/..
 
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3

Minigene Splicing Assays and Long-Read Sequencing to Unrave..:

Tamayo, Alejandra ; Núñez-Moreno, Gonzalo ; Ruiz, Carolina...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1562 , 2023
Link: https://doi.org/10.3390/..
 
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4

Clinical and genetic analysis further delineates the phenot..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics.  31 (2023)  10 - p. 1175-1180 , 2023
Link: https://doi.org/10.1038/..
 
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5

Correction: Clinical and genetic analysis further delineate..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics.  31 (2023)  10 - p. 1196-1198 , 2023
Link: https://doi.org/10.1038/..
 
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6

GM2 gangliosidosis AB variant: first case of late onset and..:

Ganne, Benjamin ; Dauriat, Benjamin ; Richard, Laurence...
Neurological Sciences.  43 (2022)  11 - p. 6517-6527 , 2022
Link: https://doi.org/10.1007/..
 
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7

Correction to: Evaluation of somatic and/or germline mosaic..:

Chesneau, Bertrand ; Ivashchenko, Véronique ; Habib, Christophe...
European Journal of Human Genetics.  31 (2022)  5 - p. 607-607 , 2022
Link: https://doi.org/10.1038/..
 
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8

Evaluation of somatic and/or germline mosaicism in congenit..:

Chesneau, Bertrand ; Ivashchenko, Véronique ; Habib, Christophe...
European Journal of Human Genetics.  31 (2022)  5 - p. 526-530 , 2022
Link: https://doi.org/10.1038/..
 
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9

EPHA2 biallelic disruption causes syndromic complex microph..:

Courdier, Cécile ; Gemahling, Anna ; Guindolet, Damien...
European Journal of Medical Genetics.  65 (2022)  10 - p. 104574 , 2022
Link: https://doi.org/10.1016/..
 
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10

The top 10 most frequently involved genes in hereditary opt..:

Rocatcher, Aude ; Desquiret-Dumas, Valérie ; Charif, Majida...
Brain.  146 (2022)  2 - p. 455-460 , 2022
Link: https://doi.org/10.1093/..
 
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11

Individuals with heterozygous variants in the Wnt-signallin..:

Holt, Richard ; Goudie, David ; Verde, Alejandra Damián...
Ophthalmic Genetics.  43 (2022)  6 - p. 809-816 , 2022
Link: https://doi.org/10.1080/..
 
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12

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A. ; Hall, H. Nikki ; Owen, Liusaidh J....
Genetics in Medicine.  22 (2020)  3 - p. 598-609 , 2020
Link: https://doi.org/10.1038/..
 
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13

Single Circulating Fetal Trophoblastic Cells Eligible for N..:

Cayrefourcq, Laure ; Vincent, Marie-Claire ; Pierredon, Sandra...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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14

Novel PXDN biallelic variants in patients with microphthalm..:

Zazo-Seco, Celia ; Plaisancié, Julie ; Bitoun, Pierre...
Journal of Human Genetics.  65 (2020)  5 - p. 487-491 , 2020
Link: https://doi.org/10.1038/..
 
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15

Confirmation of FZD5 implication in a cohort of 50 patients..:

Aubert-Mucca, Marion ; Pernin-Grandjean, Julie ; Marchasson, Sébastien...
European Journal of Human Genetics.  29 (2020)  1 - p. 131-140 , 2020
Link: https://doi.org/10.1038/..
 
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