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Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.262-275

2014

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The ARID1B phenotype: What we have learned so far

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.276-289

2014

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Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

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DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.327-332

2014

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BCL11B, FLT3, NOTCH1 and FBXW7 mutation status in T-cell acute lymphoblastic leukemia patients

Blood cells, molecules, & diseases, 2013-01, Vol.50 (1), p.33-38

2013

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Synthesis of Wild Type and Mutant Human Hemoglobins in Saccharomyces cerevisiae

Bio/technology (New York, N.Y. 1983), 1991-01, Vol.9 (1), p.57-61

1991

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Contribution of Ghrelin to the Pathogenesis of Growth Hormone Deficiency

International journal of molecular sciences, 2021-08, Vol.22 (16), p.9066

2021

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A review of craniofacial disorders caused by spliceosomal defects

Clinical genetics, 2015-11, Vol.88 (5), p.405-415

2015

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

Nature communications, 2016-05, Vol.7 (1), p.11752-11752, Article 11752

2016

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

The Lancet (British edition), 2012-11, Vol.380 (9854), p.1674-1682

2012

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Epigenetic Changes in Neoplastic Mast Cells and Potential Impact in Mastocytosis

International journal of molecular sciences, 2021-03, Vol.22 (6), p.2964

2021

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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Clinical genetics, 2016-05, Vol.89 (5), p.564-573

2016

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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Nature genetics, 2006-03, Vol.38 (3), p.294-296

2006

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Clinical genetics, 2016-01, Vol.89 (1), p.34-43

2016

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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

American journal of human genetics, 2012-03, Vol.90 (3), p.565-572

2012

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Prevalence and Antimicrobial Resistance of Campylobacter spp. Isolated from Poultry Carcasses in Poland

Journal of food protection, 2013-08, Vol.76 (8), p.1451-1455

2013

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A comparative in vitro toxicity assessment of electronic vaping product e-liquids and aerosols with tobacco cigarette smoke

Toxicology in vitro, 2020-08, Vol.66, p.104866, Article 104866

2020

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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

American journal of human genetics, 2021-08, Vol.108 (8), p.1450-1465

2021

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Is Transthyretin a Regulator of Ubc9 SUMOylation?

PloS one, 2016-08, Vol.11 (8), p.e0160536-e0160536

2016

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FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10506

2022

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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

Nature communications, 2019-07, Vol.10 (1), p.2966-14, Article 2966

2019

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Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

The ARID1B phenotype: What we have learned so far

Phenotype and genotype in Nicolaides-Baraitser syndrome

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

BCL11B, FLT3, NOTCH1 and FBXW7 mutation status in T-cell acute lymphoblastic leukemia patients

Synthesis of Wild Type and Mutant Human Hemoglobins in Saccharomyces cerevisiae

Contribution of Ghrelin to the Pathogenesis of Growth Hormone Deficiency

A review of craniofacial disorders caused by spliceosomal defects

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Epigenetic Changes in Neoplastic Mast Cells and Potential Impact in Mastocytosis

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Prevalence and Antimicrobial Resistance of Campylobacter spp. Isolated from Poultry Carcasses in Poland

A comparative in vitro toxicity assessment of electronic vaping product e-liquids and aerosols with tobacco cigarette smoke

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Is Transthyretin a Regulator of Ubc9 SUMOylation?

FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

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