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A genomic view of mosaicism and human disease

Nature reviews. Genetics, 2013-05, Vol.14 (5), p.307-320

2013

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Notch signaling in human development and disease

Seminars in cell & developmental biology, 2012-06, Vol.23 (4), p.450-457

2012

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Jagged1 (JAG1): Structure, expression, and disease associations

Gene, 2016-01, Vol.576 (1), p.381-384

2016

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Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

American journal of human genetics, 2015-07, Vol.97 (1), p.6-21

2015

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Mosaicism and clinical genetics

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-12, Vol.166C (4), p.397-405

2014

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Human molecular genetics, 2010-04, Vol.19 (7), p.1263-1275

2010

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells

PLoS biology, 2009-05, Vol.7 (5), p.e1000119-e1000119

2009

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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

PLoS genetics, 2018-08, Vol.14 (8), p.e1007532

2018

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Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693) in the JAG1 gene

Stem cell research, 2024-06, Vol.77, p.103429-103429, Article 103429

2024

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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

Expert review of molecular diagnostics, 2016-09, Vol.16 (9), p.987-999

2016

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Genetics in medicine, 2016-04, Vol.18 (4), p.309-315

2016

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Mechanisms of ring chromosome formation, ring instability and clinical consequences

BMC medical genetics, 2011-12, Vol.12 (1), p.171-171, Article 171

2011

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Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

Frontiers in pediatrics, 2020-07, Vol.8, p.373-373

2020

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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Genetics in medicine, 2013-11, Vol.15 (11), p.860-867

2013

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Clinical utility gene card for: Alagille Syndrome (ALGS)

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.435-435

2014

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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.612-620

2019

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Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

Hepatology communications, 2020-03, Vol.4 (3), p.387-398

2020

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Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

PloS one, 2014-10, Vol.9 (10), p.e108853-e108853

2014

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A six-attribute classification of geneticmosaicism

Genetics in medicine, 2020-11, Vol.22 (11), p.1743-1757

2020

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Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome

Journal of pediatric gastroenterology and nutrition, 2010-09, Vol.51 (3), p.319-321

2010

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CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops

PloS one, 2013-09, Vol.8 (9), p.e75770-e75770

2013

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Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.298-308

2012

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Moyamoya Syndrome Associated with Alagille Syndrome: Outcome after Surgical Revascularization

The Journal of pediatrics, 2015-02, Vol.166 (2), p.470-473

2015

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Human Mutation special issue on innovations in genomic diagnostics

Human mutation, 2022-11, Vol.43 (11), p.1493-1494

2022

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Alagille syndrome is caused by mutations in human Jagged1 , which encodes a ligand for Notch1

Nature genetics, 1997-07, Vol.16 (3), p.243-251

1997

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A genomic view of mosaicism and human disease

Notch signaling in human development and disease

Jagged1 (JAG1): Structure, expression, and disease associations

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

Mosaicism and clinical genetics

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693) in the JAG1 gene

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Mechanisms of ring chromosome formation, ring instability and clinical consequences

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Clinical utility gene card for: Alagille Syndrome (ALGS)

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

A six-attribute classification of geneticmosaicism

Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

Moyamoya Syndrome Associated with Alagille Syndrome: Outcome after Surgical Revascularization

Human Mutation special issue on innovations in genomic diagnostics

Alagille syndrome is caused by mutations in human Jagged1 , which encodes a ligand for Notch1

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