C. Vanlerberghe

发表

The natural history of a family with aortic dissection associated with a novel ACTA2 variant.

P. Arnaud, F. Juthier, J. Sobocinski, 2021, Annals of vascular surgery.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

F. Petit, T. Smol, R. Caumes, 2017, European Journal of Human Genetics.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

A. Noegel, S. Lyonnet, C. Becker, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Intrafamilial variability of ZRS‐associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing

L. Faivre, F. Escande, O. Fruchart, 2015, Clinical genetics.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, European journal of medical genetics.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

D. Skuse, A. McQuillin, N. Bass, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

F. Giuliano, F. Escande, A. Dieux, 2020, Human mutation.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

F. Escande, B. Delobel, V. Cormier-Daire, 2018, European Journal of Human Genetics.

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

F. Escande, P. Guerreschi, F. Petit, 2017, Genetics in Medicine.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Genetics of patella hypoplasia/agenesis

N. Boutry, F. Petit, C. Vanlerberghe, 2018, Clinical genetics.

Small patella syndrome: New clinical and molecular insights into a consistent phenotype

A. Toutain, F. Escande, B. Isidor, 2017, Clinical genetics.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

Fraser syndrome without cryptophthalmos: Two cases.

B. van der Zwaag, M. Vogel, S. Lyonnet, 2020, European journal of medical genetics.

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

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

N. de Leeuw, S. Twigg, A. Wilkie, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children

C. Vincent‐Delorme, Barbara Le Driant, C. Vanlerberghe, 2023, Frontiers in psychology.