Publications by authors named "Rami Abou Jamra"

99Publications

Rare variants in the GABA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Mol Genet Genomic Med 2020 Sep 25;8(9):e1388. Epub 2020 Jun 25.

Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.

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http://dx.doi.org/10.1002/mgg3.1388DOI Listing
September 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

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

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.

Eur J Med Genet 2020 Feb 12;63(2):103649. Epub 2019 Apr 12.

Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany; Heinrich-Heine-University, Medical Faculty, Center of Rare Disorders, Düsseldorf, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.04.006DOI Listing
February 2020

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.

Genet Med 2019 08 4;21(8):1790-1796. Epub 2019 Jan 4.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41436-018-0415-8DOI Listing
August 2019

Samtig-weiche hyperelastische Haut bei einem jungen Patienten.

J Dtsch Dermatol Ges 2018 Apr;16(4):504-507

Klinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Leipzig A.ö.R., Leipzig.

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http://dx.doi.org/10.1111/ddg.13480_gDOI Listing
April 2018

Smooth velvety hyperextensible skin in a young patient.

J Dtsch Dermatol Ges 2018 Apr 26;16(4):504-507. Epub 2018 Mar 26.

Department of Dermatology, Venerology, and Allergology, Leipzig University Medical Center, Leipzig, Germany.

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http://doi.wiley.com/10.1111/ddg.13480
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http://dx.doi.org/10.1111/ddg.13480DOI Listing
April 2018

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Am J Med Genet A 2017 Sep 25;173(9):2534-2538. Epub 2017 Jul 25.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38345DOI Listing
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

Am J Hum Genet 2017 Mar;100(3):555-561

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339287PMC
March 2017

A comprehensive global genotype-phenotype database for rare diseases.

Mol Genet Genomic Med 2017 Jan 23;5(1):66-75. Epub 2016 Nov 23.

Centogene AGRostockGermany; Albrecht-Kossel-Institute for NeuroregenerationMedical University RostockRostockGermany.

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http://dx.doi.org/10.1002/mgg3.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210PMC
January 2017

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Orphanet J Rare Dis 2016 Sep 29;11(1):130. Epub 2016 Sep 29.

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041579PMC
http://dx.doi.org/10.1186/s13023-016-0509-9DOI Listing
September 2016

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Am J Hum Genet 2016 Oct 8;99(4):912-916. Epub 2016 Sep 8.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2016.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065650PMC
October 2016

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

Mol Syndromol 2015 Jul 4;6(2):58-62. Epub 2015 Mar 4.

Institute of Human Genetics, Friedrich-Alexander-University, Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1159/000371399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521065PMC
July 2015

Recurrent null mutation in SPG20 leads to Troyer syndrome.

Mol Cell Probes 2015 Oct 20;29(5):315-8. Epub 2015 May 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centogene, Rostock, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2015.05.006DOI Listing
October 2015

NDST1 missense mutations in autosomal recessive intellectual disability.

Am J Med Genet A 2014 Nov 14;164A(11):2753-63. Epub 2014 Aug 14.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36723DOI Listing
November 2014

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

Eur J Med Genet 2013 Nov 28;56(11):599-602. Epub 2013 Sep 28.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.010DOI Listing
November 2013

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Am J Hum Genet 2011 Jun 27;88(6):788-795. Epub 2011 May 27.

INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2011.04.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113253PMC
June 2011

A new susceptibility locus for bipolar affective disorder in PAR1 on Xp22.3/Yp11.3.

Am J Med Genet B Neuropsychiatr Genet 2010 Jul;153B(5):1110-4

Institute of Medical Biometry and Epidemiology, Philipps University Marburg, Marburg, Germany.

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http://dx.doi.org/10.1002/ajmg.b.31075DOI Listing
July 2010

Behavioral changes in G72/G30 transgenic mice.

Eur Neuropsychopharmacol 2009 May 1;19(5):339-48. Epub 2009 Feb 1.

Institute of Molecular Psychiatry, University of Bonn, Sigmund-Freud-Strasse 25, Bonn, Germany.

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http://dx.doi.org/10.1016/j.euroneuro.2008.12.009DOI Listing
May 2009

The G72/G30 gene locus in psychiatric disorders: a challenge to diagnostic boundaries?

Schizophr Bull 2006 Oct 16;32(4):599-608. Epub 2006 Aug 16.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany.

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https://academic.oup.com/schizophreniabulletin/article-looku
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http://dx.doi.org/10.1093/schbul/sbl028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2632259PMC
October 2006

No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.

Hum Genet 2003 Dec 25;114(1):115-7. Epub 2003 Sep 25.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-003-1022-5DOI Listing
December 2003