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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Nature genetics, 2017-04, Vol.49 (4), p.537-549

2017

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The genomic and clinical landscape of fetal akinesia

Genetics in medicine, 2020-03, Vol.22 (3), p.511-523

2020

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Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Frontiers in genetics, 2017-09, Vol.8, p.130-130

2017

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Uniparental disomies 7 and 14

Baillière's best practice & research. Clinical endocrinology & metabolism, 2011-02, Vol.25 (1), p.77-100

2011

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PRUNE1: a disease-causing gene for secondary microcephaly

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.e61-e61

2017

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.286-288

2014

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Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant‐activating mutation

Clinical & translational immunology, 2024, Vol.13 (2), p.e1493-n/a

2024

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

American journal of human genetics, 2008-02, Vol.82 (2), p.464-476

2008

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Differential effects of ergometer-cycling and Whole-Body-Vibration training on serological BDNF and IGF-1 in the treatment of adolescent depression - is there an impact of BDNFp.Val66Met variants?

Physiology & behavior, 2021-11, Vol.241, p.113596-113596, Article 113596

2021

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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American journal of human genetics, 2016-11, Vol.99 (5), p.1206-1216

2016

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Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.180-188

2015

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Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1040-1048

2017

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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American journal of human genetics, 2016-12, Vol.99 (6), p.1406-1408

2016

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The challenge of defining pathogenicity: the example of AHI1

Genetics in medicine, 2015-06, Vol.17 (6), p.508-508

2015

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LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

Human molecular genetics, 2009-10, Vol.18 (19), p.3645-3658

2009

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Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.643-652

2013

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A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

Human molecular genetics, 2017-10, Vol.26 (20), p.4055-4066

2017

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Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features

Molecular and cellular probes, 2019-06, Vol.45, p.89-93

2019

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Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

Cellular and molecular life sciences : CMLS, 2016-05, Vol.73 (10), p.2089-2104

2016

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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1299-1306

2022

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Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

American journal of human genetics, 2013-07, Vol.93 (1), p.181-190

2013

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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.593-603

2021

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PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Human mutation, 2016-02, Vol.37 (2), p.170-174

2016

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VPA response in SMA is suppressed by the fatty acid translocase CD36

Human molecular genetics, 2013-01, Vol.22 (2), p.398-407

2013

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

The genomic and clinical landscape of fetal akinesia

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Uniparental disomies 7 and 14

PRUNE1: a disease-causing gene for secondary microcephaly

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant‐activating mutation

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Differential effects of ergometer-cycling and Whole-Body-Vibration training on serological BDNF and IGF-1 in the treatment of adolescent depression - is there an impact of BDNFp.Val66Met variants?

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

The challenge of defining pathogenicity: the example of AHI1

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

VPA response in SMA is suppressed by the fatty acid translocase CD36

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