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CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model

Human molecular genetics, 2020-05, Vol.29 (7), p.1205-1217

2020

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Differential requirements of tubulin genes in mammalian forebrain development

PLoS genetics, 2019-08, Vol.15 (8), p.e1008243

2019

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Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants

PLoS genetics, 2019-11, Vol.15 (11), p.e1008467-e1008467

2019

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A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Disease models & mechanisms, 2020-10, Vol.13 (10)

2020

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Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival

eLife, 2019-06, Vol.8

2019

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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

Human molecular genetics, 2017-12, Vol.26 (24), p.4836-4848

2017

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A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Nature communications, 2024-01, Vol.15 (1), p.136-23, Article 136

2024

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A tissue-specific role for intraflagellar transport genes during craniofacial development

PloS one, 2017-03, Vol.12 (3), p.e0174206

2017

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Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development

PloS one, 2017-03, Vol.12 (3), p.e0173258-e0173258

2017

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Mutation mapping and identification by whole-genome sequencing

Genome research, 2012-08, Vol.22 (8), p.1541

2012

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Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

Neurobiology of disease, 2016-07, Vol.91, p.69-82

2016

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The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1

PloS one, 2014-12, Vol.9 (12), p.e116104-e116104

2014

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Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Disease models & mechanisms, 2021-01, Vol.14 (1)

2021

Volltextzugriff (PDF)

Using human sequencing to guide craniofacial research

Genesis (New York, N.Y. : 2000), 2019-01, Vol.57 (1), p.e23259-n/a

2019

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BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium

Development (Cambridge), 2004-05, Vol.131 (9), p.2205-2218

2004

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Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression

PloS one, 2015-09, Vol.10 (9), p.e0137043-e0137043

2015

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Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo

PLoS genetics, 2011-09, Vol.7 (9), p.e1002224

2011

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Chordin and noggin promote organizing centers of forebrain development in the mouse

Development (Cambridge), 2002-11, Vol.129 (21), p.4975-4987

2002

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Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration

Journal of developmental biology, 2017-12, Vol.5 (4), p.18

2017

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A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization

Genes, brain and behavior, 2017-02, Vol.16 (2), p.250-259

2017

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The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms

Developmental biology, 2006-07, Vol.295 (2), p.647-663

2006

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Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

Genes, 2016-10, Vol.7 (10), p.85-85

2016

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Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence

Experimental neurology, 2019-10, Vol.320, p.112961-112961, Article 112961

2019

Volltextzugriff (PDF)

A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression

Journal of developmental biology, 2021-07, Vol.9 (3), p.27

2021

Volltextzugriff (PDF)

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

Development (Cambridge), 2018-01, Vol.145 (1), p.dev154500-dev154500

2018

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CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model

Differential requirements of tubulin genes in mammalian forebrain development

Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

A tissue-specific role for intraflagellar transport genes during craniofacial development

Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development

Mutation mapping and identification by whole-genome sequencing

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Using human sequencing to guide craniofacial research

BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium

Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo

Chordin and noggin promote organizing centers of forebrain development in the mouse

Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration

A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization

The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence

A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

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