Chelsea Barrows

Developmental organization of sensory and sympathetic ganglia

Keng Ioi Vong, Yanina D. Álvarez, Qingquan Zhang, Jiaming Weng et autres

us, au, kr (code pays fourni par la source)

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders

Lu Wang, Y. Nakamura, Junhao Li, David Sievert et autres

us, Égypte (code pays fourni par la source)

A phenotypic brain organoid atlas for neurodevelopmental disorders

Lu Wang, Y. Nakamura, Junhao Li, David Sievert et autres

SUMMARY Thousands of genes are associated with neurodevelopmental disorders (NDDs), yet mechanisms and targeted treatments remain elusive. To fill these gaps, we present a CIRM-initiated NDD biobank of 352 publicly-available genetically-diverse patient-derived iPSCs, along with clinical details, brain imaging and genomic data, …

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi et autres

Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is not always specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked …

us, jo, au, Égypte (code pays fourni par la source)

The contribution of de novo coding mutations to meningomyelocele

Yoo-Jin Ha, Ashna Nisal, Isaac Tang, Chanjae Lee et autres

us, kr, fr, ca, Nigéria, br, gt, pk, cl, mx, ve, it, Égypte, Éthiopie, jp, de, tr, ge (code pays fourni par la source)

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi et autres

ABSTRACT Background Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting …

us, jo, au (code pays fourni par la source)

Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia

Keng Ioi Vong, Yanina D. Álvarez, Geoffroy Noël, Scott T. Barton et autres

Summary The neural crest generates numerous cell types, but conflicting results leave developmental origins unresolved. Here using somatic mosaic variants as cellular barcodes, we infer embryonic clonal dynamics of trunk neural crest, focusing on the sensory and sympathetic ganglia. From three independent …

us, au (code pays fourni par la source)

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Keng Ioi Vong, T. Blaine Crowley, Jeremiah Martino, Meade Haller et autres

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring …

us, it, br, pk, Nigéria, ca, ge, mx, es, gb, Égypte, il (code pays fourni par la source)

Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

Changuk Chung, Xiaoxu Yang, Robert F. Hevner, Katie Kennedy et autres

us (code pays fourni par la source)

The contribution of de novo coding mutations to meningomyelocele

Yoo-Jin Ha, Isaac Tang, Ashna Nisal, Ishani Jhamb et autres

Abstract Meningomyelocele (MM) is considered a genetically complex disease resulting from failure of neural tube closure (NTD). Patients display neuromotor disability and frequent hydrocephalus requiring ventricular shunting. A few proposed genes contribute to disease susceptibility, but most risk remains unexplained 1 . …

us, kr, fr, ca, Nigéria, br, gt, pk, mx, ve, it, Égypte (code pays fourni par la source)

Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain

Changuk Chung, Xiaoxu Yang, Robert F. Hevner, Katie Kennedy et autres

Abstract Debate remains around anatomic origins of specific brain cell subtypes and lineage relationships within the human forebrain. Thus, direct observation in the mature human brain is critical for a complete understanding of the structural organization and cellular origins. Here, we utilize …

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Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

M. Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows et autres

Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abnormalities and developmental delay, while biallelic loss of function variants …

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