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Early Switch From Tacrolimus to Everolimus After Liver Transplantation: Outcomes at 2 Years

Liver transplantation, 2019-12, Vol.25 (12), p.1822-1832

2019

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Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome

Cell death & disease, 2024-05, Vol.15 (5), p.315-315, Article 315

2024

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

American journal of human genetics, 2017-10, Vol.101 (4), p.630-637

2017

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

American journal of human genetics, 2016-05, Vol.98 (5), p.971-980

2016

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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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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

American journal of human genetics, 2014-02, Vol.94 (2), p.288-294

2014

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Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

Journal of allergy and clinical immunology, 2015-09, Vol.136 (3), p.819-821.e1

2015

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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

American journal of human genetics, 2014-06, Vol.94 (6), p.905-914

2014

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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

Journal of clinical immunology, 2024-02, Vol.44 (2), p.60-60, Article 60

2024

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ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

Brain (London, England : 1878), 2016-11, Vol.139 (11), p.e64-e64

2016

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

American journal of human genetics, 2016-09, Vol.99 (3), p.666-673

2016

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Analysis of ‘Quantified-Self Technologies’: An Explanation of Failure

Proceedings of the 20th Congress of the International Ergonomics Association (IEA 2018), p.579-583

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.57-57, Article 57

2016

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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature

Birth defects research, 2022-06, Vol.114 (10), p.499-504

2022

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An Ad-Hoc ‘Technology-Driven’ Creativity Method

Proceedings of the 20th Congress of the International Ergonomics Association (IEA 2018), p.526-532

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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Neurology. Genetics, 2019-04, Vol.5 (2), p.e321-e321

2019

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EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

Journal of neurology, 2016-07, Vol.263 (7), p.1456-1458

2016

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Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

Neurogenetics, 2013-11, Vol.14 (3-4), p.215-224

2013

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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

American journal of human genetics, 2014-05, Vol.94 (5), p.799-799

2014

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Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

Birth defects research, 2021-11, Vol.113 (18), p.1324-1332

2021

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Early Switch From Tacrolimus to Everolimus After Liver Transplantation: Outcomes at 2 Years

Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome

Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

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

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Analysis of ‘Quantified-Self Technologies’: An Explanation of Failure

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature

An Ad-Hoc ‘Technology-Driven’ Creativity Method

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

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