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KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer

Cancer research (Chicago, Ill.), 2015-09, Vol.75 (18), p.3936-3945

2015

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Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies

Genes, 2022-12, Vol.13 (12), p.2367

2022

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Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary

Genes, 2021-08, Vol.12 (9), p.1331

2021

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Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.187-193

2018

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A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

BMC medical genetics, 2020-03, Vol.21 (1), p.61-61, Article 61

2020

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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3006-3010

2015

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Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Genes, 2021-10, Vol.12 (11), p.1674

2021

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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

Life (Basel, Switzerland), 2021-05, Vol.11 (6), p.507

2021

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Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann–Pick C patient

European journal of paediatric neurology, 2014-01, Vol.18 (1), p.75-78

2014

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Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)

Orvosi hetilap, 2014-03, Vol.155 (9), p.348

2014

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Deletion 15q26 syndrome

Orvosi hetilap, 2014-03, Vol.155 (9), p.362

2014

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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Genes & development, 2020-11, Vol.34 (21-22), p.1520-1533

2020

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Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases

Journal of biotechnology, 2019-06, Vol.299, p.86-95

2019

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Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia

European journal of haematology, 2023-08, Vol.111 (2), p.254-262

2023

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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Human mutation, 2015-11, Vol.36 (11), p.1070-1079

2015

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FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies

Journal of biotechnology, 2019-08, Vol.301, p.105-111

2019

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MED13L -related intellectual disability due to paternal germinal mosaicism

Cold Spring Harbor molecular case studies, 2022-01, Vol.8 (1), p.a006124

2022

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.3-3, Article 3

2020

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Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3176-3179

2014

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De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.884-888

2013

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Journal of pediatric genetics (Birmingham, Ala.), 2021-06, Vol.10 (2), p.159-163

2021

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22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

Molecular syndromology, 2020-07, Vol.11 (3), p.146-152

2020

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KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies

Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann–Pick C patient

New mutations in the ATM gene and clinical data of 25 AT patients

Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)

Deletion 15q26 syndrome

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases

Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

MED13L -related intellectual disability due to paternal germinal mosaicism

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

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