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NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

Cell, 2018-10, Vol.175 (2), p.488-501.e22

2018

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Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

Nature (London), 2008-10, Vol.455 (7215), p.967-970

2008

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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Nature genetics, 2011-10, Vol.43 (10), p.1026-1030

2011

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Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

The Journal of clinical investigation, 2023-02, Vol.133 (4), p.1-13

2023

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A Human Mutation in Phox2b Causes Lack of CO₂ Chemosensitivity, Fatal Central Apnea, and Specific Loss of Parafacial Neurons

Proceedings of the National Academy of Sciences - PNAS, 2008-01, Vol.105 (3), p.1067-1072

2008

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ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

Nature communications, 2020-01, Vol.11 (1), p.198-14, Article 198

2020

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Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

The Journal of clinical investigation, 2012-09, Vol.122 (9), p.3145-3158

2012

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Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome

Scientific reports, 2024-01, Vol.14 (1), p.2330-2330, Article 2330

2024

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Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

Developmental biology, 2013-10, Vol.382 (1), p.320-329

2013

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Nature communications, 2018-08, Vol.9 (1), p.3087-15, Article 3087

2018

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Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.85-85, Article 85

2018

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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Nature genetics, 2003-04, Vol.33 (4), p.459-461

2003

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Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-442, Article 442

2021

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.370-377

2006

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

American journal of human genetics, 2007-12, Vol.81 (6), p.1169-1185

2007

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Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

American journal of human genetics, 2013-12, Vol.93 (6), p.1118-1125

2013

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Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-11, Vol.163C (4), p.306-317

2013

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ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

Human molecular genetics, 2013-07, Vol.22 (13), p.2652-2661

2013

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Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

Acta neuropathologica communications, 2023-02, Vol.11 (1), p.29-29, Article 29

2023

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Germline Mutations of the Paired–Like Homeobox 2B ( PHOX2B) Gene in Neuroblastoma

American journal of human genetics, 2004-04, Vol.74 (4), p.761-764

2004

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Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish

PLoS genetics, 2015-06, Vol.11 (6), p.e1005193-e1005193

2015

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PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

American journal of human genetics, 2005-03, Vol.76 (3), p.421-426

2005

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Cherubism as a systemic skeletal disease: evidence from an aggressive case

BMC musculoskeletal disorders, 2020-08, Vol.21 (1), p.564-564, Article 564

2020

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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment

Stem cell research, 2020-10, Vol.48, p.101936-101936, Article 101936

2020

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NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

A Human Mutation in Phox2b Causes Lack of CO₂ Chemosensitivity, Fatal Central Apnea, and Specific Loss of Parafacial Neurons

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome

Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

Germline Mutations of the Paired–Like Homeobox 2B ( PHOX2B) Gene in Neuroblastoma

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Cherubism as a systemic skeletal disease: evidence from an aggressive case

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment

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