Rami Abou Jamra

Overview

Best Publications

• A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.

  A E Baum;N Akula;M Cabanero;I Cardona

  825
  Citations

• Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression.

  Johannes Schumacher;Rami Abou Jamra;Tim Becker;Stephanie Ohlraun

  387
  Citations

• Clinical exome sequencing: results from 2819 samples reflecting 1000 families

  Daniel Trujillano;Aida M Bertoli-Avella;Krishna Kumar Kandaswamy;Maximilian Er Weiss

  340
  Citations

• De novo variants in neurodevelopmental disorders with epilepsy.

  Henrike O. Heyne;Tarjinder Singh;Tarjinder Singh;Hannah Stamberger;Rami Abou Jamra

  307
  Citations

• Combined Analysis from Eleven Linkage Studies of Bipolar Disorder Provides Strong Evidence of Susceptibility Loci on Chromosomes 6q and 8q

  Matthew B. McQueen;B. Devlin;Stephen V. Faraone;Vishwajit L. Nimgaonkar

  295
  Citations

• Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

  Axel M. Hillmer;Sandra Hanneken;Sibylle Ritzmann;Tim Becker

  275
  Citations

• GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  272
  Citations

• Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

  Rami Abou Jamra;Orianne Philippe;Annick Raas-Rothschild;Sebastian H. Eck

  256
  Citations

• GRIN2A-related disorders : genotype and functional consequence predict phenotype

  Vincent Strehlow;Henrike O Heyne;Henrike O Heyne;Henrike O Heyne;Danique R M Vlaskamp;Katie F M Marwick

  233
  Citations

• Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

  Kym M. Boycott;Chandree L. Beaulieu;Kristin D. Kernohan;Ola H. Gebril

  218
  Citations

• Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

  Miriam S. Reuter;Hasan Tawamie;Rebecca Buchert;Ola Hosny Gebril

  214
  Citations

• NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

  Christian Thiel;Kristin Kessler;Andreas Giessl;Arno Dimmler

  209
  Citations

• Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification of psychiatric phenotypes

  Thomas G. Schulze;Stephanie Ohlraun;Piotr M. Czerski;Johannes Schumacher

  186
  Citations

• Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5′-region are associated with bipolar affective disorder

  Sven Cichon;Ingeborg Winge;Manuel Mattheisen;Alexander Georgi

  147
  Citations

• A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

  Rebecca Buchert;Hasan Tawamie;Christopher Smith;Steffen Uebe

  133
  Citations

• Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

  Nadine N Hauer;Bernt Popp;Eva Schoeller;Sarah Schuhmann

  126
  Citations

• Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

  R Abou Jamra;R Abou Jamra;Sigrun Wohlfart;Markus Zweier;Steffen Uebe

  122
  Citations

• Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents

  Sumeet A. Khetarpal;Katrine T. Schjoldager;Christina Christoffersen;Avanthi Raghavan

  118
  Citations

• The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations

  Johannes Schumacher;Gonzalo Laje;Rami Abou Jamra;Tim Becker

  107
  Citations

• Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.

  Arjan P.M. de Brouwer;Rami Abou Jamra;Rami Abou Jamra;Nadine Körtel;Clara Soyris

  106
  Citations