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Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

eLife, 2016-08, Vol.5

2016

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

PloS one, 2015-08, Vol.10 (8), p.e0129631-e0129631

2015

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Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

Genes, 2022-11, Vol.13 (11), p.2023

2022

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Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders

Genes, 2023-01, Vol.14 (2), p.250

2023

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

PLoS genetics, 2017-04, Vol.13 (4), p.e1006746-e1006746

2017

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The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

Genes, 2022-03, Vol.13 (3), p.500

2022

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NDST1 missense mutations in autosomal recessive intellectual disability

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2753-2763

2014

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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.392-399

2016

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Genetics of recessive cognitive disorders

Trends in genetics, 2014-01, Vol.30 (1), p.32-39

2014

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation

Epileptic disorders, 2020-10, Vol.22 (5), p.659-663

2020

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Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

Epilepsia (Copenhagen), 2020-11, Vol.61 (11), p.2474-2485

2020

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Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

Human mutation, 2017-06, Vol.38 (6), p.621-636

2017

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Germline KRAS mutations cause Noonan syndrome

Nature genetics, 2006-03, Vol.38 (3), p.331-336

2006

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A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Genetics in medicine, 2023-09, Vol.25 (9), p.100894-100894, Article 100894

2023

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

American journal of human genetics, 2023-05, Vol.110 (5), p.790-808

2023

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Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

Human mutation, 2014-12, Vol.35 (12), p.1427-1435

2014

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Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

Human molecular genetics, 2018-09, Vol.27 (18), p.3177-3188

2018

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Genome medicine, 2013-02, Vol.5 (2), p.11-11

2013

Volltextzugriff (PDF)

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of ICSNK2B/I-Associated Disorders

Genes, 2023-01, Vol.14 (2)

2023

Volltextzugriff (PDF)

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2652-2665

2022

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Redefining the MED13L syndrome

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317

2015

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Autocrine Regulation of Volume-sensitive Anion Channels in Airway Epithelial Cells by Adenosine

The Journal of biological chemistry, 1999-04, Vol.274 (17), p.11701-11707

1999

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Kluever-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.253-256

2017

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Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

NDST1 missense mutations in autosomal recessive intellectual disability

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Genetics of recessive cognitive disorders

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

Germline KRAS mutations cause Noonan syndrome

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of ICSNK2B/I-Associated Disorders

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

Redefining the MED13L syndrome

Autocrine Regulation of Volume-sensitive Anion Channels in Airway Epithelial Cells by Adenosine

Kluever-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

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