Rami Abou Jamra

Rami Abou Jamra

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Rami Abou Jamra

Rami Abou Jamra

Publications by authors named "Rami Abou Jamra"

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

Genet Med 2019 Nov 14. 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
November 2019

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

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

Am J Hum Genet 2019 Jun 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 May 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 2019 Apr 12:103649. 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
April 2019

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

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

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

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

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

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

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

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