Dr. rer. nat.  Rebecca Buchert - Institute of Medical Genetics and Applied Genomics

Dr. rer. nat. Rebecca Buchert

Institute of Medical Genetics and Applied Genomics

Tübingen | Germany

Dr. rer. nat.  Rebecca Buchert - Institute of Medical Genetics and Applied Genomics

Dr. rer. nat. Rebecca Buchert

Introduction

Primary Affiliation: Institute of Medical Genetics and Applied Genomics - Tübingen , Germany

Publications

16Publications

689Reads

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153PubMed Central Citations

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Klin Padiatr 2018 09 18;230(5):281-283. Epub 2018 Jun 18.

Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany.

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http://dx.doi.org/10.1055/a-0605-3659DOI Listing
September 2018
10 Reads

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
24 Reads
1 Citation
10.931 Impact Factor

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

Am J Hum Genet 2016 Dec 17;99(6):1359-1367. Epub 2016 Nov 17.

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142110PMC
December 2016
31 Reads
3 Citations
10.931 Impact Factor

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
47 Reads
1 Citation
3.360 Impact Factor

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Am J Hum Genet 2014 Nov 30;95(5):602-10. Epub 2014 Oct 30.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225589PMC
November 2014
20 Reads
18 Citations
10.931 Impact Factor

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
11 Reads
4 Citations
1.490 Impact Factor

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
25 Reads
47 Citations
10.931 Impact Factor

Top co-authors

Rami Abou Jamra
Rami Abou Jamra

University of Bonn

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Heinrich Sticht
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Institute of Biochemistry

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Andre Reis
Andre Reis

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Hasan Tawamie
Hasan Tawamie

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Steffen Uebe
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Arif B Ekici
Arif B Ekici

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Dagmar Wieczorek
Dagmar Wieczorek

Universitätsklinikum Essen

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Andre Reis
Andre Reis

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Laurence Colleaux
Laurence Colleaux

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders

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Christiane Zweier
Christiane Zweier

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