Publications by authors named "Mathilde Lefebvre"

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Mathilde Lefebvre

Cell· December 2025

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Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW.
Nazim Rabouhi, Smrithi Salian, Hind Benkerroum, Takeshi Yoshida, Humayra Uddin, Mathilde Lefebvre

Pediatr Neurol· June 2025

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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Mathilde Lefebvre

Am J Hum Genet· January 2025

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C3 glomerulopathy is highly prevalent in French Polynesia.
Nelly Candela, Nicolas Benichou, Mathilde Lefebvre, Lorraine Gueguen, Paula Vieira-Martins

J Transl Autoimmun· December 2024

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In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.
Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella

Biomolecules· December 2024

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Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Mathilde Lefebvre

J Med Genet· August 2024

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Mathilde Lefebvre

medRxiv· August 2024

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Mathilde Lefebvre

Am J Hum Genet· December 2023

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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Mathilde Lefebvre

Genet Med· August 2023

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First reports of fetal SMARCC1 related hydrocephalus.
Nicolas Rive Le Gouard, Romain Nicolle, Mathilde Lefebvre, Antoinette Gelot, Solveig Heide

Eur J Med Genet· August 2023

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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham, Mathilde Lefebvre

Prenat Diagn· June 2023

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Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Mathilde Lefebvre

medRxiv· May 2023

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In mice and humans, brain microvascular contractility matures postnatally.
Leila Slaoui, Alice Gilbert, Armelle Rancillac, Barbara Delaunay-Piednoir, Audrey Chagnot, Mathilde Lefebvre

Brain Struct Funct· March 2023

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Mathilde Lefebvre

Genet Med· February 2023

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Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them

Eur J Hum Genet· August 2022

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Mathilde Lefebvre

Genet Med· August 2022

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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Penelope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière, Carole Tournant, Mathilde Lefebvre

Hum Mutat· March 2022

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Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier

Eur J Med Genet· February 2022

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Tonate Virus and Fetal Abnormalities, French Guiana, 2019.
Veronique Lambert, Antoine Enfissi, Mathilde Lefebvre, Leo Pomar, Sobhi Kedous

Emerg Infect Dis· February 2022

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CCR5 Blockade in Inflammatory PML and PML-IRIS Associated With Chronic Inflammatory Diseases' Treatments.
Raphael Bernard-Valnet, Xavier Moisset, Nicolas Maubeuge, Mathilde Lefebvre, Jean-Christophe Ouallet

Neurol Neuroimmunol Neuroinflamm· January 2022

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Transplantation Outcome in Recipients Engrafted With Organs Recovered From the First French Deceased Donor With a SARS-COV-2 Vaccine-induced Thrombotic Thrombocytopenia.
Matthieu Jamme, Ismail Elalamy, Thibaut d'Izarny Gargas, Caroline Pettenati, Eva Desire, Mathilde Lefebvre

Transplantation· August 2021

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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd

J Med Genet· June 2021

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Description of a late miscarriage case at 16 Weeks of Gestation associated with a SARS-CoV-2 infection.
Anne-Sophie Michel, Victoire De Logiviere, Aurélie Schnuriger, Mathilde Lefebvre, Emeline Maisonneuve

J Gynecol Obstet Hum Reprod· March 2021

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Thuy-Linh Le, Louise Galmiche, Jonathan Levy, Pim Suwannarat, Debby Mei Hellebrekers, Mathilde Lefebvre

J Clin Invest· March 2021

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Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Mathilde Lefebvre

Genet Med· November 2020

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