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European Journal of Human Genetics (9)
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Showing 1–20 of 20 results

Advanced filters: Author: Tiffany Busa Clear advanced filters

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

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Jessica Le Gall
Mathilde Nizon
Bertrand Isidor
Research14 Jun 2017
European Journal of Human Genetics

Volume: 25, P: 930-934
Germline AGO2 mutations impair RNA interference and human neurological development

AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.

Davor Lessel
Daniela M. Zeitler
Hans-Jürgen Kreienkamp
ResearchOpen Access16 Nov 2020
Nature Communications

Volume: 11, P: 1-14
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

Yingjie Zhao
Yujue Wang
Bernice E. Morrow
ResearchOpen Access18 Jul 2023
npj Genomic Medicine

Volume: 8, P: 1-15
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Polygenic risk scores are nearing a level of differentiation required for their clinical utility in risk prediction in populations with high-risk rare pathogenic genetic variants.

Robert W. Davies
Ania M. Fiksinski
Jacob A. S. Vorstman
Research09 Nov 2020
Nature Medicine

Volume: 26, P: 1912-1918
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Marine Legendre
Montserrat Rodriguez - Ballesteros
Frédéric Bilan
Research18 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 287-292
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Jérémie Mortreux
Tiffany Busa
Chantal Missirian
Research29 Nov 2017
European Journal of Human Genetics

Volume: 26, P: 143-148
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Claire Forde
Emma Burkitt-Wright
Meena Upadhyaya
ResearchOpen Access13 Dec 2021
European Journal of Human Genetics

Volume: 30, P: 291-297
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Anne-Sophie Denommé-Pichon
Antonio Vitobello
Christel Thauvin-Robinet
Research15 Nov 2021
European Journal of Human Genetics

Volume: 30, P: 567-576
Regulatory variants of FOXG1 in the context of its topological ___domain organisation

Mana M Mehrjouy
Ana Carolina S. Fonseca
Niels Tommerup
Research30 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 186-196
Arterial tortuosity syndrome: 40 new families and literature review

Aude Beyens
Juliette Albuisson
Bert Callewaert
Research11 Jan 2018
Genetics in Medicine

Volume: 20, P: 1236-1245
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette Piard
Lara Hawkes
Christophe Philippe
ResearchOpen Access25 Oct 2018
Genetics in Medicine

Volume: 21, P: 1308-1318
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Isabelle Cleynen
Worrawat Engchuan
Anne S. Bassett
Research03 Feb 2020
Molecular Psychiatry

Volume: 26, P: 4496-4510
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Pauline Arnaud
Nadine Hanna
Catherine Boileau
Research11 Feb 2019
Genetics in Medicine

Volume: 21, P: 2015-2024
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari
Bruno Dumont
Isabelle Touitou
Research02 Dec 2015
European Journal of Human Genetics

Volume: 24, P: 992-1000
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Céline Poirsier
Justine Besseau-Ayasse
Martine Doco-Fenzy
Research28 Oct 2015
European Journal of Human Genetics

Volume: 24, P: 844-851
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Alma Kuechler
Johanna Christina Czeschik
Dagmar Wieczorek
Research30 Nov 2016
European Journal of Human Genetics

Volume: 25, P: 183-191
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette Piard
Lara Hawkes
Christophe Philippe
Amendments and CorrectionsOpen Access20 Feb 2019
Genetics in Medicine

Volume: 21, P: 1667-1671
Correction: Arterial tortuosity syndrome: 40 new families and literature review

Aude Beyens
Juliette Albuisson
Bert Callewaert
Amendments and Corrections10 Sept 2018
Genetics in Medicine

Volume: 21, P: 1894-1895
Effects of eight neuropsychiatric copy number variants on human brain structure

Claudia Modenato
Kuldeep Kumar
Sébastien Jacquemont
ResearchOpen Access20 Jul 2021
Translational Psychiatry

Volume: 11, P: 1-10

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

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Germline AGO2 mutations impair RNA interference and human neurological development

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Regulatory variants of FOXG1 in the context of its topological ___domain organisation

Arterial tortuosity syndrome: 40 new families and literature review

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Correction: Arterial tortuosity syndrome: 40 new families and literature review

Effects of eight neuropsychiatric copy number variants on human brain structure

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