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Showing 1–33 of 33 results

Advanced filters: Author: Laurent Pasquier 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
A highly potent and selective Vps34 inhibitor alters vesicle trafficking and autophagy

A small-molecule inhibitor of the type III phosphatidylinositol 3-kinase, Vps34, binds the ATP binding pocket and prevents vesicle trafficking and autophagy.

Baptiste Ronan
Odile Flamand
Benoit Pasquier
Research19 Oct 2014
Nature Chemical Biology

Volume: 10, P: 1013-1019
Informing relatives of their genetic risk: an examination of the Belgian legal context

Amicia Phillips
Thomas Bronselaer
Stefaan Callens
Research08 Jan 2022
European Journal of Human Genetics

Volume: 30, P: 766-771
Controlling the helicity of light by electrical magnetization switching

The helicity of light from a light-emitting diode can be electrically controlled by spin–orbit torque effects, enabling a seamless integration of magnetization dynamics with photonics.

Pambiang Abel Dainone
Nicholas Figueiredo Prestes
Yuan Lu
Research27 Mar 2024
Nature

Volume: 627, P: 783-788
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

Laurence Faivre
Philippe Gosset
Catherine Turleau
Research29 Oct 2002
European Journal of Human Genetics

Volume: 10, P: 699-706
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Valérie Malan
Suzanne Chevallier
Laurence Colleaux
Research21 Oct 2009
European Journal of Human Genetics

Volume: 18, P: 227-232
Evidence of en bloc duplication in vertebrate genomes

Laurent Abi-Rached
André Gilles
Hidetoshi Inoko
Research22 Apr 2002
Nature Genetics

Volume: 31, P: 100-105
Reduced venetoclax exposure to 7 days vs standard exposure with hypomethylating agents in newly diagnosed AML patients

Christophe Willekens
Alexandre Bazinet
Courtney DiNardo
ResearchOpen Access17 Apr 2025
Blood Cancer Journal

Volume: 15, P: 1-8
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

Clara Houdayer
Kathleen Rooney
Estelle Colin
ResearchOpen Access05 Mar 2025
European Journal of Human Genetics

P: 1-10
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Camille Engel
Stéphanie Valence
Juliette Piard
Research21 Jun 2023
European Journal of Human Genetics

Volume: 31, P: 1023-1031
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont
Alexandre Reymond
Philippe Froguel
Research31 Aug 2011
Nature

Volume: 478, P: 97-102
How do non-geneticist physicians deal with genetic tests? A qualitative analysis

Laurent Pasquier
Guy Minguet
Grégoire Moutel
ResearchOpen Access28 Apr 2021
European Journal of Human Genetics

Volume: 30, P: 320-331
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane
Cecilia Marelli
Michel Koenig
Research07 Jul 2021
Genetics in Medicine

Volume: 23, P: 2160-2170
Population genetic screening: current issues in a European country

Laurent Pasquier
Bertrand Isidor
Grégoire Moutel
Reviews08 May 2019
European Journal of Human Genetics

Volume: 27, P: 1321-1323
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Maxence Nachury, Christel Thauvin-Robinet and colleagues identify mutations in C2CD3 in two families with oral-facial-digital syndrome. They further show that C2CD3 localizes to the distal end of centrioles and acts as a positive regulator of centriole elongation.

Christel Thauvin-Robinet
Jaclyn S Lee
Maxence V Nachury
Research06 Jul 2014
Nature Genetics

Volume: 46, P: 905-911
22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

Sylvie Jaillard
Elena J Tucker
Célia Ravel
Research14 Mar 2018
Journal of Human Genetics

Volume: 63, P: 691-698
Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

Karine Morcel
Bruno Dallapiccola
Daniel Guerrier
Research07 Sept 2011
European Journal of Human Genetics

Volume: 20, P: 1-3
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson
François Lecoquierre
Camille Charbonnier
ResearchOpen Access23 Oct 2023
European Journal of Human Genetics

Volume: 32, P: 190-199
Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Sandra Mercier
Annick Toutain
Isabelle Desguerre
Amendments and Corrections18 Jul 2013
European Journal of Human Genetics

Volume: 21, P: 892
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud
Eric Chater-Diehl
Amélie Piton
Research03 Aug 2021
Genetics in Medicine

Volume: 23, P: 2150-2159
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
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs
Sandra Jansen
Gijs W. E. Santen
ResearchOpen Access08 Nov 2018
Genetics in Medicine

Volume: 21, P: 1295-1307
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Sandra Mercier
Annick Toutain
Isabelle Desguerre
Research09 Jan 2013
European Journal of Human Genetics

Volume: 21, P: 855-863
New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger
Amale Ichkou
Tania Attie-Bitach
Research16 Apr 2014
European Journal of Human Genetics

Volume: 23, P: 92-102
Targeted worker removal reveals a lack of flexibility in brood transport specialisation with no compensatory gain in efficiency

Sean McGregor
Fazil E. Uslu
Laurent Keller
ResearchOpen Access28 Feb 2024
Scientific Reports

Volume: 14, P: 1-16
Searching for secondary findings: considering actionability and preserving the right not to know

Bertrand Isidor
Sophie Julia
Marie Vincent
Reviews11 Jun 2019
European Journal of Human Genetics

Volume: 27, P: 1481-1484
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Ali Abbas
Sheryl Ann Abdukahil
Luis Felipe Reyes
ResearchOpen Access30 Jul 2022
Scientific Data

Volume: 9, P: 1-22
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review

Laurent Pasquier
Maryn Reyneke
Pascal Borry
Reviews12 Jan 2023
European Journal of Human Genetics

Volume: 31, P: 395-408
30-day morbidity and mortality of sleeve gastrectomy, Roux-en-Y gastric bypass and one anastomosis gastric bypass: a propensity score-matched analysis of the GENEVA data

Rishi Singhal
Victor Roth Cardoso
Mehmet Saydam
ResearchOpen Access15 Dec 2021
International Journal of Obesity

Volume: 46, P: 750-757
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs
Sandra Jansen
Gijs W. E. Santen
Amendments and CorrectionsOpen Access29 Jan 2019
Genetics in Medicine

Volume: 21, P: 2160-2161
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

G Nicolas
C Charbonnier
Karl Mondon
Research25 Aug 2015
Molecular Psychiatry

Volume: 21, P: 831-836
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent
David Geneviève
Corinne Collet
Research19 Mar 2015
Genetics in Medicine

Volume: 18, P: 49-56

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

A highly potent and selective Vps34 inhibitor alters vesicle trafficking and autophagy

Informing relatives of their genetic risk: an examination of the Belgian legal context

Controlling the helicity of light by electrical magnetization switching

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Evidence of en bloc duplication in vertebrate genomes

Reduced venetoclax exposure to 7 days vs standard exposure with hypomethylating agents in newly diagnosed AML patients

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

How do non-geneticist physicians deal with genetic tests? A qualitative analysis

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Population genetic screening: current issues in a European country

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

New insights into genotype–phenotype correlation for GLI3 mutations

Targeted worker removal reveals a lack of flexibility in brood transport specialisation with no compensatory gain in efficiency

Searching for secondary findings: considering actionability and preserving the right not to know

ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review

30-day morbidity and mortality of sleeve gastrectomy, Roux-en-Y gastric bypass and one anastomosis gastric bypass: a propensity score-matched analysis of the GENEVA data

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

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