Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Jennifer L Moran

No Evidence for Rare Recessive and Compound Heterozygous Disruptive Variants in Schizophrenia

European Journal of Human Genetics

English

Related publications

Epileptic Encephalopathy and Cerebellar Atrophy Resulting From Compound Heterozygous CACNA2D2 Variants

Case Reports in Genetics

English

Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency

European Journal of Human Genetics

English

Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Association of Common and Rare Genetic Variants With Cognition in Schizophrenia

Canadian Journal of Biotechnology

English

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Frontiers in Physiology

English

Novel Compound Heterozygous TMEM67 Variants in a Vietnamese Family With Joubert Syndrome: A Case Report

BMC Medical Genetics

English

Discovery of Rare Variants Implicated in Schizophrenia Using Next-Generation Sequencing

Journal of Translational Genetics and Genomics

English

HbA1c Levels in Individuals Heterozygous for Hemoglobin Variants

Revista da Associacao Medica Brasileira

English

Compound Heterozygous NEK1 Variants in Two Siblings With Oral-Facial-Digital Syndrome Type II (Mohr Syndrome)

European Journal of Human Genetics

English