Ladoire S, Mamguem Kamga A, Galland L, Desmoulins I, Mayeur D, Kaderbhai C, Ilie SM, Hennequin A, Jankowski C, Albuisson J, Nambot S, Coutant C, Arnould L, Reda M, Truntzer C, Dabakuyo S

Breast. 2024 08 28;78:103789

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Viora-Dupont E, Denommé-Pichon A, Chevarin M, Patat O, Willems M, Bourgon N, Bruel A, Aubert-Mucca M, Galinier M, Itier R, Decramer S, Piton A, Gerard B, Billon C, Jeunemaitre X, Duffourd Y, Callier P, Thauvin C, Philippe C, Faivre L, Albuisson J, Vitobello A

Am J Med Genet A. 2023 09 12;:

Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.

Mazel B, Bertolone G, Baurand A, Cosset E, Sawka C, Robert M, Gautier E, Lançon A, Réda M, Favier L, Dérangère V, Richard C, Binquet C, Boidot R, Goussot V, Albuisson J, Ghiringhelli F, Faivre L, Nambot S

Cancer Med. 2023 09 11;:

Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.

Tessler I, Albuisson J, Piñeiro-Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero-Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S, Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R

JAMA Cardiol. 2023 08 1;8(8):721-731

Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.

Galland L, Roussot N, Desmoulins I, Mayeur D, Kaderbhai C, Ilie S, Hennequin A, Reda M, Albuisson J, Arnould L, Boidot R, Truntzer C, Ghiringhelli F, Ladoire S

Cancers (Basel). 2023 02 18;15(4):

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S

Oncotarget. 2023 02 7;14:111-125

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.

Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F

Eur J Cancer. 2022 11 13;179:76-86

Detection of relevant pharmacogenetic information through exome sequencing in oncology.

Verdez S, Albuisson J, Duffourd Y, Boidot R, Reda M, Thauvin-Robinet C, Fumet JD, Ladoire S, Nambot S, Callier P, Faivre L, Ghiringhelli F, Picard N

Pharmacogenomics. 2022 08 31;:

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S, Brasselet A, Carnet M, Chevriaux A, Gibeaud A, Jourdain M, Mananet H, Truntzer C, Beltjens F, Charon-Barra C, Arnould L, Albuisson J, Comte A, Derangère V, Goussot V, Boidot R

Int J Mol Med. 2022 May;49(5):

Efficacy of platinum-based chemotherapy in metastatic breast cancer and HRD biomarkers: utility of exome sequencing.

Galland L, Ballot E, Mananet H, Boidot R, Lecuelle J, Albuisson J, Arnould L, Desmoulins I, Mayeur D, Kaderbhai C, Ilie S, Hennequin A, Bergeron A, Derangère V, Ghiringhelli F, Truntzer C, Ladoire S

NPJ Breast Cancer. 2022 Mar 4;8(1):28

Is Bicuspid Aortic Valve Morphology Genetically Determined? A Family-Based Study.

Tessler I, Goudot G, Albuisson J, Reshef N, Zwas DR, Carmi S, Shpitzen S, Levin G, Kelman G, Cheng C, Mazzella JM, Levin Y, Messas E, Gilon D, Durst R

Am J Cardiol. 2022 01 15;163:85-90

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.

Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J,

Orphanet J Rare Dis. 2021 12 4;16(1):504

TCR Clonality and Genomic Instability Signatures as Prognostic Biomarkers in High Grade Serous Ovarian Cancer.

Lecuelle J, Boidot R, Mananet H, Derangère V, Albuisson J, Goussot V, Arnould L, Tharin Z, Ray Coquard I, Ghiringhelli F, Truntzer C, Fumet JD

Cancers (Basel). 2021 Aug 31;13(17):

Does large NGS panel analysed using exome tumour sequencing improve the management of advanced non-small-cell lung cancers?

Niogret J, Dalens L, Truntzer C, Chevrier S, Favier L, Lagrange A, Coudert B, Fraisse C, Foucher P, Zouak A, Westeel V, Goussot V, Dérangère V, Albuisson J, Arnould L, Boidot R, Kaderbhai CG, Ghiringhelli F

Lung Cancer. 2021 Aug 29;161:98-107

Bicuspid Aortic Valve: Genetic and Clinical Insights.

Tessler I, Albuisson J, Goudot G, Carmi S, Shpitzen S, Messas E, Gilon D, Durst R

Aorta (Stamford). 2021 08;9(4):139-146

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.

Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J

J Intern Med. 2021 05;289(5):709-725

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.

Georges A, Albuisson J, Berrandou T, Dupré D, Lorthioir A, D'Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW, Warchol-Celinska E, Prejbisz A, Januszewicz A, Bruneval P, Baranowska AA, Webb TR, Hamby SE, Samani NJ, Adlam D, Fendrikova-Mahlay N, Hazen S, Wang Y, Yang ML, Hunker K, Combaret N, Motreff P, Chédid A, Fiquet B, Plouin PF, Mousseaux E, Azarine A, Amar L, Azizi M, Gornik HL, Ganesh SK, Kovacic JC, Jeunemaitre X, Bouatia-Naji N

Cardiovasc Res. 2021 03 21;117(4):1154-1165

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and Impact on patients.

Nambot S, Bertolone G, Sawka C, Cosset E, Goussot V, Derangère V, Boidot R, Baurand A, Robert M, Coutant C, Loustalot C, Thauvin-Robinet C, Ghiringhelli F, Lançon A, Populaire C, Damette A, Collonge-Rame MA, Meunier-Beillard N, Lejeune C, Albuisson J, Faivre L

Eur J Med Genet. 2021 Mar 19;:104196

Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).

Burlet B, Ramla S, Fournier C, Abrey-Recalde MJ, Sauter C, Chrétien ML, Rossi C, Duffourd Y, Ragot S, Buriller C, Tournier B, Chapusot C, Nadal N, Racine J, Guy J, Bailly F, Martin L, Casasnovas O, Bastie JN, Caillot D, Albuisson J, Broccardo C, Thieblemont C, Delva L, Maynadié M, Aucagne R, Callanan MB

Cold Spring Harb Mol Case Stud. 2021 Feb;7(1):

Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Vignes S, Albuisson J, Champion L, Constans J, Tauveron V, Malloizel J, Quéré I, Simon L, Arrault M, Trévidic P, Azria P, Maruani A,

Orphanet J Rare Dis. 2021 01 6;16(1):18

Implementation and use of whole exome sequencing in daily practice for metastatic solid cancer.

Réda M, Richard C, Bertaut A, Niogret J, Collot T, Fumet JD, Blanc J, Truntzer C, Desmoulins I, Ladoire S, Hennequin A, Favier L, Bengrine L, Vincent J, Hervieu A, Dusserre JG, Lepage C, Foucher P, Borg C, Albuisson J, Arnould L, Nambot S, Faivre L, Boidot R, Ghiringhelli F

EBioMedicine. 2020 Jan 7;51:102624

Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation.

Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, Bourrat E, Boute O, Bukvic N, Bursztejn AC, Chiaverini C, Delobel B, Fournet M, Martel J, Goldenberg A, Hadj-Rabia S, Mahé A, Maruani A, Mazereeuw J, Mignot C, Morice-Picard F, Moutard ML, Petit F, Pasteur J, Phan A, Whalen S, Willems M, Philippe C, Vabres P

J. Invest. Dermatol.. 2019 Nov 11;:

Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.

Devriese M, Legrand A, Courtois MC, Jeunemaitre X, Albuisson J

Vasc Med. 2019 10;24(5):461-464

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.

Luyckx I, Kumar AA, Reyniers E, Dekeyser E, Vanderstraeten K, Vandeweyer G, Wünnemann F, Preuss C, Mazzella JM, Goudot G, Messas E, Albuisson J, Jeunemaitre X, Eriksson P, Mohamed SA, Kempers M, Salemink S, Duijnhouwer A, Andelfinger G, Dietz HC, Verstraeten A, Van Laer L, Loeys BL,

Eur J Hum Genet. 2019 07;27(7):1033-1043

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X

Genet Med. 2019 07;21(7):1568-1575

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.

Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X

J Am Coll Cardiol. 2019 04 23;73(15):1948-1957

Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Henneton P, Albuisson J, Adham S, Legrand A, Mazzella JM, Jeunemaitre X, Frank M

Circ Genom Precis Med. 2019 03;12(3):e001996

Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Henneton P, Albuisson J, Adham S, Legrand A, Mazzella JM, Jeunemaitre X, Frank M

Circ Genom Precis Med. 2019 02 20;:

Segmental aortic stiffness in patients with bicuspid aortic valve compared with first-degree relatives.

Goudot G, Mirault T, Rossi A, Zarka S, Albuisson J, Achouh P, Pernot M, Messas E

Heart. 2019 01;105(2):130-136

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B

Genet Med. 2018 10;20(10):1236-1245

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in .

Letard P, Schepers D, Albuisson J, Bruneval P, Spaggiari E, Van de Beek G, Khung-Savatovsky S, Belarbi N, Capri Y, Delezoide AL, Loeys B, Guimiot F

Mol Syndromol. 2018 07;9(4):190-196

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, Frank M

Orphanet J Rare Dis. 2018 06 25;13(1):100

Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation.

Waldmann V, Bougouin W, Karam N, Dumas F, Sharifzadehgan A, Gandjbakhch E, Algalarrondo V, Narayanan K, Zhao A, Amet D, Jost D, Geri G, Lamhaut L, Beganton F, Ludes B, Bruneval P, Plu I, Hidden-Lucet F, Albuisson J, Lavergne T, Piot O, Alonso C, Leenhardt A, Lellouche N, Extramiana F, Cariou A, Jouven X, Marijon E,

Eur Heart J. 2018 06 1;39(21):1981-1987

Clinical utility gene card: for pseudoxanthoma elasticum.

Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J

Eur J Hum Genet. 2018 06;26(6):919-924

[Sudden cardiac death: A better understanting for a better prevention].

Waldmann V, Bougouin W, Karam N, Albuisson J, Cariou A, Jouven X, Marijon E

Ann Cardiol Angeiol (Paris). 2017 09;66(4):230-238

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J

Genet Med. 2017 08;19(8):909-917

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: as an Important Contributor.

Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL,

Front Physiol. 2017 06 13;8:400

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P

Europace. 2017 Apr;19(4):651-659

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Mazzella JM, Frank M, Collignon P, Langeois M, Legrand A, Jeunemaitre X, Albuisson J

Clin Genet. 2017 03;91(3):458-462

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB

Genet. Med.. 2017 Feb;:

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D'Escamard V, Tréard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N

PLoS Genet. 2016 10;12(10):e1006367

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.

de Nijs T, Albuisson J, Ockeloen CW, Legrand A, Jeunemaitre X, Schultze Kool LJ, Riksen NP

Int J Cardiol. 2016 06 1;212:248-50

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

Europace. 2016 May;:

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X

Eur J Hum Genet. 2015 12;23(12):1657-64