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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

American journal of human genetics, 2018-10, Vol.103 (4), p.579-591

2018

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Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Nature communications, 2024-01, Vol.15 (1), p.45-45, Article 45

2024

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Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort

Frontiers in oncology, 2021-11, Vol.11, p.756025-756025

2021

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Neurogenetics, 2021-10, Vol.22 (4), p.263-269

2021

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Options and Limitations in Applying the Fistula Classification by the International Study Group for Pancreatic Fistula

Annals of surgery, 2012-07, Vol.256 (1), p.130-138

2012

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Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

BMC medical genetics, 2019-04, Vol.20 (1), p.62-62, Article 62

2019

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Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100660-100660, Article 100660

2020

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Neurofibromatosis type 2 predisposes to ependymomas of various localization, histology, and molecular subtype

Acta neuropathologica, 2021-06, Vol.141 (6), p.971-974

2021

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Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

Monatsschrift Kinderheilkunde, 2020-08

2020

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16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome

Clinical genetics, 2019-07, Vol.96 (1), p.85-90

2019

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The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature

European journal of pediatric surgery, 2022-08, Vol.32 (4), p.316-320

2022

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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5

Clinical genetics, 2020-10, Vol.98 (4), p.418-419

2020

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Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β‐catenin signaling

Journal of neurochemistry, 2020-11, Vol.155 (3), p.250-263

2020

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Nature communications, 2018-11, Vol.9 (1), p.4619-12, Article 4619

2018

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature genetics, 2021-07, Vol.53 (7), p.1006-1021

2021

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Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46

European journal of medical genetics, 2020-09, Vol.63 (9), p.103992, Article 103992

2020

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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

Human genetics, 2019-06, Vol.138 (6), p.625-634

2019

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Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

European journal of medical genetics, 2021-03, Vol.64 (3), p.104161-104161, Article 104161

2021

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Exome Sequencing in Children

Deutsches Ärzteblatt international, 2019-03

2019

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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

Neonatology (Basel, Switzerland), 2021-08, Vol.118 (4), p.454-461

2021

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Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

American journal of human genetics, 2018-12, Vol.103 (6), p.976-983

2018

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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

Clinical genetics, 2021-12, Vol.100 (6), p.766-770

2021

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First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

European journal of medical genetics, 2017-09, Vol.60 (9), p.494-498

2017

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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Options and Limitations in Applying the Fistula Classification by the International Study Group for Pancreatic Fistula

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

Neurofibromatosis type 2 predisposes to ependymomas of various localization, histology, and molecular subtype

Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome

The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β‐catenin signaling

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

Exome Sequencing in Children

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

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