Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME)

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nava, Caroline; Cogne, B.; Santini, A.; et al.

Nature Genetics, Springer Nature, 18-05-2025, 57, 1374–1388

Article dans une revue scientifiquefulltext

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Mak, C. C. Y.; Klinkhammer, H.; Choufani, S.; et al.

EBioMedicine, Elsevier, 04-05-2025, 115, 105677

Article dans une revue scientifiquefulltext

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Cuinat, Silvestre; Chatron, N.; Petit, Florence; et al.

European Journal of Human Genetics, Springer Nature, 23-03-2025

Article dans une revue scientifiquefulltext

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Charpié, M.; Brunelle, Perrine; Baujat, G.; et al.

European Journal of Human Genetics, Springer Nature, 29-06-2024, 32, 1559–1566

Article dans une revue scientifique

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

Boussion, Simon; Aumar, Madeleine; Hutt, A.; et al.

Clin Genet, 28-12-2024, 107 (5), 564-569

Article dans une revue scientifique

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review

Colson, Cindy; Tessarech, Marine; Boucher-Brischoux, Elise; et al.

Clinical Genetics, Wiley Online Library, 12-01-2025, 1-14

Article dans une revue scientifiquefulltext

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations.

Jeanne, M.; Ronce, N.; Remizé, S.; et al.

Journal of Medical Genetics, BMJ Journals, 18-01-2025

Article dans une revue scientifique

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

Fauqueux, Jade; Boussion, Simon; Thuillier, Caroline; et al.

Journal of Medical Genetics, BMJ Publishing Group, 24-08-2024, 61 (11)

Article dans une revue scientifique

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront

Vanlerberghe, Clemence; Frenois, Frederic; Smol, Thomas; et al.

Genetics in Medicine, Nature Publishing Group, 10-09-2024, 26 (12), 101266

Article dans une revue scientifique

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Administrative institutions

Recent Submissions

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations.

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Administrative institutions

Recent Submissions

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature ﻿

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. ﻿

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics. ﻿

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches. ﻿

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study. ﻿

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity. ﻿

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review ﻿

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations. ﻿

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ﻿

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront ﻿

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations.

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront