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Publications by Sophie Ehresmann
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
American Journal of Human Genetics
Genetics
Related publications
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
Helsmoortel-Van Der Aa Syndrome Syndrome in a Patient With Epilepsy, Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder
Epilepsy and paroxysmal conditions
De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum
Annals of Clinical and Translational Neurology
Neuroscience
Neurology
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
