Publications by authors named "Beate Albrecht"

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ANKRD11 variants: KBG syndrome and beyond.
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Beate Albrecht

Clin Genet· August 2021

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Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, Paolo Fontana, Alma Kuechler, Beate Albrecht

Clin Genet· September 2019

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Genetics of intellectual disability in consanguineous families.
Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Ralf Herwig, Beate Albrecht

Mol Psychiatry· July 2019

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UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
Ron D Jachimowicz, Filippo Beleggia, Jörg Isensee, Bhagya Bhavana Velpula, Jonas Goergens, Beate Albrecht

Cell· January 2019

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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, Aida I Al Aqeel, Amal Alhashem

Hum Genet· September 2018

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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Beate Albrecht

Am J Hum Genet· March 2018

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The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, Wolfgang Thomas, Deniz Kanber, Beate Albrecht

Mol Genet Genomic Med· November 2017

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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Beate Albrecht

Brain· September 2017

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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle

Eur J Hum Genet· August 2017

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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Nicola Dennert, Hartmut Engels, Kirsten Cremer, Jessica Becker, Eva Wohlleber, Beate Albrecht

Am J Med Genet A· February 2017

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Beate Albrecht

Am J Hum Genet· November 2016

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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Beate Albrecht

J Med Genet· March 2016

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Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Karl Hackmann, Andreas Rump, Stefan A Haas, Johannes R Lemke, Jean-Pierre Fryns, Beate Albrecht, Albrecht Kobelt

Am J Med Genet A· January 2016

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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Nuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, Beate Albrecht, Alexander Barthelmie

Hum Genet· June 2015

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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Tobias B Haack, Christopher B Jackson, Kei Murayama, Laura S Kremer, André Schaller, Beate Albrecht

Ann Clin Transl Neurol· May 2015

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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht

Eur J Hum Genet· March 2015

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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Alma Kuechler, Marjolein H Willemsen, Beate Albrecht, Carlos A Bacino, Dennis W Bartholomew

Hum Genet· January 2015

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Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Sajid Malik, Ferda E Percin, Dorothea Bornholdt, Beate Albrecht, Antonio Percesepe

Am J Hum Genet· December 2014

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A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.
Johanna Christina Czeschik, Beate Albrecht, Hülya Kayserili, Alma Kuechler, Nicholas Wagner

Clin Dysmorphol· April 2014

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Frederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, Elodie Sanchez, Jacques Puechberty

Eur J Hum Genet· February 2014

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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Beate Albrecht

Hum Mol Genet· December 2013

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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Sarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Beate Albrecht

Neurology· November 2013

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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht

Orphanet J Rare Dis· July 2013

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Beate Albrecht

Orphanet J Rare Dis· April 2013

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Beate Albrecht, Albrecht Röpke

Lancet· November 2012

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