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Publications by Peter de Jonghe
De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function
European Journal of Human Genetics
Genetics
Related publications
Loss-Of-Function Variants in Endothelial Lipase Are a Cause of Elevated HDL Cholesterol in Humans
Journal of Clinical Investigation
Medicine
Germline Loss-Of-Function Variants in the BARD1 Gene Are Associated With Early-Onset Familial Breast Cancer but Not Ovarian Cancer
Breast Cancer Research
Cancer Research
Oncology
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia
Nature
Multidisciplinary
Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function
Human Mutation
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections
PLoS ONE
Multidisciplinary
