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Rami Abou Jamra | doi.page

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Rami Abou Jamra

University Medical Center(US)Institute of Human Genetics(PL)University Hospital Leipzig(DE)Leipzig University(DE)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Congenital heart defects research

Most-Cited Works

→ A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder(2007)702 cited
→ Clinical exome sequencing: results from 2819 samples reflecting 1000 families(2016)366 cited
→ Evidence for a Relationship Between Genetic Variants at the Brain-Derived Neurotrophic Factor (BDNF) Locus and Major Depression(2005)312 cited
→ De novo variants in neurodevelopmental disorders with epilepsy(2018)312 cited
→ GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects(2017)252 cited
→ Combined Analysis from Eleven Linkage Studies of Bipolar Disorder Provides Strong Evidence of Susceptibility Loci on Chromosomes 6q and 8q(2005)244 cited

→ Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders(2017)242 cited

→ Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia(2005)240 cited

→ Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature(2011)236 cited

→ Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8(2015)225 cited