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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

American journal of human genetics, 2017-03, Vol.100 (3), p.488-505

2017

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Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics

BMC medical education, 2019-10, Vol.19 (1), p.390-390, Article 390

2019

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Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

BMC medical genetics, 2017-06, Vol.18 (1), p.62-62, Article 62

2017

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

American journal of human genetics, 2019-11, Vol.105 (5), p.987-995

2019

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A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2154-n/a

2023

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Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1365-1374

2009

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Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients

PloS one, 2011-08, Vol.6 (8), p.e24114-e24114

2011

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A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e865-n/a

2019

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

Molecular cytogenetics, 2018-05, Vol.11 (1), p.29-7, Article 29

2018

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Subtypes of autism by cluster analysis based on structural MRI data

European child & adolescent psychiatry, 2005-06, Vol.14 (3), p.138-144

2005

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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

The Journal of clinical investigation, 2015-06, Vol.125 (6), p.2363-2368

2015

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Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2119-2123

2019

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Analysis of genetic events in 17p13 and 9p21 regions supports predominant monoclonal origin of multifocal and recurrent bladder cancer

Cancer letters, 2006-10, Vol.242 (1), p.68-76

2006

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Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Human mutation, 2024-01, Vol.2024, p.1-10

2024

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Odor detection threshold, but not odor identification, is impaired in children with autism

European child & adolescent psychiatry, 2011-07, Vol.20 (7), p.333-340

2011

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Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1438-1442

2018

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Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?

Journal of human genetics, 2002-08, Vol.47 (8), p.381-386

2002

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Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Human mutation, 2018-05, Vol.39 (5), p.709-716

2018

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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Human molecular genetics, 2015-06, Vol.24 (12), p.3335-3347

2015

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Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age

Cancer, 2007-08, Vol.110 (3), p.694-702

2007

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A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.865-870

2013

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

American journal of human genetics, 2021-05, Vol.108 (5), p.951-961

2021

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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

Subtypes of autism by cluster analysis based on structural MRI data

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

Analysis of genetic events in 17p13 and 9p21 regions supports predominant monoclonal origin of multifocal and recurrent bladder cancer

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Odor detection threshold, but not odor identification, is impaired in children with autism

Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres

Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age

A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

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