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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Nature communications, 2020-05, Vol.11 (1), p.2441-2441, Article 2441

2020

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Proceedings of the National Academy of Sciences - PNAS, 2014-10, Vol.111 (42), p.E4468-E4477

2014

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Nature (London), 2012-05, Vol.485 (7398), p.363-367

2012

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Nature genetics, 2012-04, Vol.44 (4), p.450-455

2012

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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

American journal of human genetics, 2009-07, Vol.85 (1), p.106-111

2009

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Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

The FASEB journal, 2014-03, Vol.28 (3), p.1248-1267

2014

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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

Genetics (Austin), 2014-10, Vol.198 (2), p.723-733

2014

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A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis

Nature communications, 2024-07, Vol.15 (1), p.6419-17, Article 6419

2024

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A dominant vimentin variant causes a rare syndrome with premature aging

European Journal of Human Genetics, 2020-09, Vol.28 (9), p.1218-1230

2020

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Nature genetics, 2007-07, Vol.39 (7), p.875-881

2007

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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

American journal of human genetics, 2013-11, Vol.93 (5), p.798-811

2013

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Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

Scientific reports, 2018-07, Vol.8 (1), p.10779-12, Article 10779

2018

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Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

Molecular biology of the cell, 2012-07, Vol.23 (13), p.2412-2423

2012

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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

American journal of human genetics, 2007-06, Vol.80 (6), p.1179-1187

2007

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ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

PloS one, 2012-01, Vol.7 (1), p.e30677-e30677

2012

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Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

PloS one, 2015-10, Vol.10 (10), p.e0139614

2015

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Genetic architecture of reciprocal CNVs

Current opinion in genetics & development, 2013-06, Vol.23 (3), p.240-248

2013

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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Human genomics, 2017-07, Vol.11 (1), p.16-16, Article 16

2017

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Mitochondrial Copy Number as a Biomarker for Autism?

Pediatrics (Evanston), 2016-04, Vol.137 (4)

2016

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Endoglin interacts with VEGFR2 to promote angiogenesis

The FASEB journal, 2018-06, Vol.32 (6), p.2934-2949

2018

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Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

The EMBO journal, 2012-10, Vol.31 (19), p.3885-3900

2012

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Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly

The Journal of neuroscience, 2015-05, Vol.35 (18), p.7003-7018

2015

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis

A dominant vimentin variant causes a rare syndrome with premature aging

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

Genetic architecture of reciprocal CNVs

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Mitochondrial Copy Number as a Biomarker for Autism?

Endoglin interacts with VEGFR2 to promote angiogenesis

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly

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