Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Monica H. Wojcik

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome

Journal of Pediatrics

English

Related publications

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

American Journal of Human Genetics

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics

English

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics

English

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing

Molecular genetics & genomic medicine

Molecular Biology

English

De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies

European Journal of Human Genetics

English