Whalen Sandra
7PUBLICATIONS
88CO-AUTHORS
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Publications (7)
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|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.Clara Houdayer, Kathleen Rooney, Liselot van der Laan
|Aug 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.Vincent Michaud, Angèle Sequeira, Elina Mercier
|Feb 09, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Afshin Saffari, Tracy Lau, Homa Tajsharghi
|Jul 23, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.Ahmed El Mouatani, Géraldine Van Winckel, Khaoula Zaafrane-Khachnaoui
|Apr 19, 2021
Clinical delineation of SETBP1 haploinsufficiency disorder.Nadieh A Jansen, Ruth O Braden, Siddharth Srivastava
|Mar 04, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.Stéphanie Bauché, Alain Sureau, Damien Sternberg
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Frequent Collaborators
2 joint publications
Mathilde Nizon
2 joint publications
John Rendu
1 joint publications
Frances Elmslie
1 joint publications
Alessandro Mauro Spinelli
1 joint publications
Manoëlle Kossorotoff
1 joint publications
Elise Brischoux-Boucher
1 joint publications
Jessica N Hartley
1 joint publications
Patrick Frosk
1 joint publications
Henry Houlden
1 joint publications
Jozef Gecz
