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Goldenberg, Alice
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1

Differential alternative splicing analysis links variation ..:

Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice...
Genetics in Medicine.  26 (2024)  4 - p. 101059 , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

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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4

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics.  110 (2023)  6 - p. 963-978 , 2023
Link: https://doi.org/10.1016/..
 
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5

High diagnostic potential of short and long read genome seq..:

Lecoquierre, François ; Quenez, Olivier ; Fourneaux, Steeve...
Human Genetics.  142 (2023)  6 - p. 773-783 , 2023
Link: https://doi.org/10.1007/..
 
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6

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine.  25 (2023)  1 - p. 135-142 , 2023
Link: https://doi.org/10.1016/..
 
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7

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 9-16 , 2023
Link: https://doi.org/10.1002/..
 
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8

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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9

Low risk of embryonic and other cancers in PIK3CA‐related o..:

Faivre, Laurence ; Crépin, Jean‐Charles ; Réda, Manon...
Clinical Genetics.  104 (2023)  5 - p. 554-563 , 2023
Link: https://doi.org/10.1111/..
 
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10

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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11

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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12

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2036-2047 , 2022
Link: https://doi.org/10.1002/..
 
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13

Adaptive behavior and psychiatric comorbidities in KCNB1 en..:

Bar, Claire ; Breuillard, Delphine ; Kuchenbuch, Mathieu...
Epilepsy & Behavior.  126 (2022)  - p. 108471 , 2022
Link: https://doi.org/10.1016/..
 
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14

Contribution of DNA methylation profiling to the reclassifi..:

Coursimault, Juliette ; Goldenberg, Alice ; Nicolas, Gaël...
European Journal of Medical Genetics.  65 (2022)  9 - p. 104556 , 2022
Link: https://doi.org/10.1016/..
 
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15

Variants in CLDN5 cause a syndrome characterized by seizure..:

Deshwar, Ashish R ; Cytrynbaum, Cheryl ; Murthy, Harsha...
Brain.  146 (2022)  6 - p. 2285-2297 , 2022
Link: https://doi.org/10.1093/..
 
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