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New insights empowered by single-cell sequencing: From neural crest to enteric nervous system

Computational and structural biotechnology journal, 2022-01, Vol.20, p.2464-2472

2022

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Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma

Developmental cell, 2019-01, Vol.48 (2), p.167-183.e5

2019

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Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation

Nature communications, 2023-04, Vol.14 (1), p.2157-2157, Article 2157

2023

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Identification of a HOXD13 mutation in a VACTERL patient

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3181-3185

2008

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Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

Scientific reports, 2022-11, Vol.12 (1), p.20423-20423, Article 20423

2022

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BACE2 variant identified from HSCR patient causes AD-like phenotypes in hPSC-derived brain organoids

Cell death discovery, 2022-02, Vol.8 (1), p.47-47, Article 47

2022

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Common genetic variants regulating ADD3 gene expression alter biliary atresia risk

Journal of hepatology, 2013-12, Vol.59 (6), p.1285-1291

2013

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Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

Human molecular genetics, 2010-07, Vol.19 (14), p.2917-2925

2010

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Caveolin-1 overexpression is associated with hepatocellular carcinoma tumourigenesis and metastasis

The Journal of pathology, 2012-03, Vol.226 (4), p.645-653

2012

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Hedgehog and Notch Signaling in Enteric Nervous System Development

Neuro-Signals, 2014-01, Vol.22 (1), p.1-13

2014

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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

PLoS genetics, 2012-05, Vol.8 (5), p.e1002687

2012

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Mutational analysis of SHH and GLI3 in anorectal malformations

Birth defects research. A Clinical and molecular teratology, 2008-09, Vol.82 (9), p.644-648

2008

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Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function

Gastroenterology (New York, N.Y. 1943), 2017-07, Vol.153 (1), p.139-153.e8

2017

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Activation of Hedgehog Signaling Promotes Development of Mouse and Human Enteric Neural Crest Cells, Based on Single-Cell Transcriptome Analyses

Gastroenterology (New York, N.Y. 1943), 2019-12, Vol.157 (6), p.1556-1571.e5

2019

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Fine mapping of the NRG1 Hirschsprung's disease locus

PloS one, 2011-01, Vol.6 (1), p.e16181-e16181

2011

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Human Pluripotent Stem Cell-Based Models for Hirschsprung Disease: From 2-D Cell to 3-D Organoid Model

Cells (Basel, Switzerland), 2022-10, Vol.11 (21), p.3428

2022

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Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development

Gastroenterology (New York, N.Y. 1943), 2018-12, Vol.155 (6), p.1908-1922.e5

2018

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Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease

Genome research, 2020-11, Vol.30 (11), p.1618-1632

2020

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Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice

Gastroenterology (New York, N.Y. 1943), 2015-12, Vol.149 (7), p.1837-1848.e5

2015

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Organoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs

Stem cell reports, 2023-07, Vol.18 (7), p.1500-1515

2023

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Update on the Role of Stem Cells in the Treatment of Hirschsprung Disease

European journal of pediatric surgery, 2018-06, Vol.28 (3), p.215-221

2018

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Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma

Developmental cell, 2020-01, Vol.52 (1), p.132-132

2020

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Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.818-826

2018

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Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

Proceedings of the National Academy of Sciences - PNAS, 2009-02, Vol.106 (8), p.2694-2699

2009

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New insights empowered by single-cell sequencing: From neural crest to enteric nervous system

Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma

Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation

Identification of a HOXD13 mutation in a VACTERL patient

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

BACE2 variant identified from HSCR patient causes AD-like phenotypes in hPSC-derived brain organoids

Common genetic variants regulating ADD3 gene expression alter biliary atresia risk

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

Caveolin-1 overexpression is associated with hepatocellular carcinoma tumourigenesis and metastasis

Hedgehog and Notch Signaling in Enteric Nervous System Development

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

Genome-wide copy number variation study in anorectal malformations

Mutational analysis of SHH and GLI3 in anorectal malformations

Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function

Activation of Hedgehog Signaling Promotes Development of Mouse and Human Enteric Neural Crest Cells, Based on Single-Cell Transcriptome Analyses

Fine mapping of the NRG1 Hirschsprung's disease locus

Human Pluripotent Stem Cell-Based Models for Hirschsprung Disease: From 2-D Cell to 3-D Organoid Model

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development

Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease

Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice

Organoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs

Update on the Role of Stem Cells in the Treatment of Hirschsprung Disease

Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

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