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Nat Genet. 2025 05 16;:

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Thauvin-Robinet C, Garde A, Favier M, Delanne J, Racine C, Rousseau T, Nambot S, Bruel AL, Moutton S, Quelin C, Colson C, Brehin AC, Guerrot AM, Rooryck C, Putoux A, Blanchet P, Odent S, Schaefer E, Boute O, Goldenberg A, Guichet A, Abel C, Morel G, Fradin M, Isidor B, Vincent M, Francannet C, Vera G, Petit F, Nizon M, Wells C, Jeanne M, Deiller C, Ziegler A, Godin M, Saugier-Veber P, Cassinari K, Blanc P, Simon E, Binquet C, Duffourd Y, Safraou H, Denomme-Pichon AS, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N

Eur J Hum Genet. 2025 04 4;:

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Bruel AL, Vulto-vanSilfhout AT, Bilan F, Le Guyader G, Gilbert-Dussardier B, Le Guillou X, Rondeau S, Rio M, Lee KN, Beil A, Suri M, Guerin F, Ruault V, Goldenberg A, Lecoquierre F, Bertsch N, Anderson R, Yang XR, Inness M, Rikeros-Orozco E, Palomares-Bralo M, Hayek JC, Cech J, Jhuraney A, Kumar RD, Mercimek-Andrews S, Ambrose A, Wakeling EN, Wentzensen IM, Torti E, Gooch C, Faivre L, Philippe C, Duffourd Y, Vitobello A, Thauvin-Robinet C

Eur J Hum Genet. 2025 03 19;:

A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

El Masri R, Iannuzzo A, Kuentz P, Tacine R, Vincent M, Barbarot S, Morice-Picard F, Boralevi F, Oillarburu N, Mazereeuw-Hautier J, Duffourd Y, Faivre L, Sorlin A, Vabres P, Delon J

Nat Commun. 2025 02 18;16(1):1751

Germline mutations in a G protein identify signaling cross-talk in T cells.

Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC

Science. 2024 09 20;385(6715):eadd8947

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Malbos M, Vera G, Sheth H, Schnur RE, Juven A, Brehin AC, Sheth J, Gandhi A, Shapiro FL, Bruel AL, Marguet F, Begtrup A, Monaghan KG, Safraou H, Brasseur-Daudruy M, Mau-Them FT, Duffourd Y, Faivre L, Thauvin-Robinet C, Benke PJ, Philippe C

Clin Genet. 2024 08 21;:

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N

Prenat Diagn. 2024 08 13;:

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Blanc A, Bonnet C, Wandzel M, Roth V, Duffourd Y, Safraou H, Leheup B, Muller F, D Colne J, Feillet F, Schmitt E, Castro M, Savatt J, Burcheri A, Nemos C, Philippe C, Lambert L

Am J Med Genet A. 2024 05 6;:e63642

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

Kuentz P, Engel C, Laeng M, Chevarin M, Duffourd Y, Martel J, Piard J, Morice-Picard F, Aubert H, Bessis D, Guerrot AM, Maruani A, Boccara O, Mazereeuw-Hautier J, Ott H, Phan A, Puzenat E, Quelin C, Thauvin-Robinet C, Faivre L, Vabres P

Br J Dermatol. 2024 04 16;:

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L

Am J Med Genet B Neuropsychiatr Genet. 2024 03 8;:e32970

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A

Genet Med. 2024 03 7;:101119

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Engel C, Chevarin M, Piard J, Abad M, Thomas Q, Carmignac V, Duffourd Y, Lemesle-Martin M, Tarris G, Thauvin-Robinet C, Vabres P, Faivre L, Kuentz P

Clin Genet. 2024 02 20;:

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Favier M, Delanne J, Gorincour G, Faivre L, Racine C, Philippe C, Duffourd Y, Vitobello A, Rousseau T, Martz O, Tarris G, Oualiken C, Thauvin-Robinet C, Mau-Them FT

Prenat Diagn. 2024 02 11;:

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C

Clin Genet. 2024 01 29;:

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Wijngaard R, Demidov G, O'Gorman L, Corominas-Galbany J, Yaldiz B, Steyaert W, de Boer E, Vissers LELM, Kamsteeg EJ, Pfundt R, Swinkels H, den Ouden A, Te Paske IBAW, de Voer RM, Faivre L, Denommé-Pichon AS, Duffourd Y, Vitobello A, Chevarin M, Straub V, Töpf A, van der Kooi AJ, Magrinelli F, Rocca C, Hanna MG, Vandrovcova J, ,Ossowski S, Laurie S, Gilissen C

Eur J Hum Genet. 2023 10 19;:

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;:

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O, ,Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C

J Med Genet. 2023 08 16;:

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P

Clin Genet. 2023 08 14;:

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Montillot C, Skutunova E, Ayushma,Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B

Neurobiol Dis. 2023 08 11;:106259

Experience and expectations of pharmacogenetic tests in France.

Verdez S, Bardou M, Duffourd Y, Luu M, Thauvin-Robinet C, Faivre L, Picard N

Therapie. 2023 07 17;:

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Bruel AL, Ganga AK, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martínez-Gil N, Thauvin-Robinet C, Breslow DK

Hum Mol Genet. 2023 06 29;:

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

Soilly AL, Robert-Viard C, Besse C, Bruel AL, Gerard B, Boland A, Piton A, Duffourd Y, Muller J, Poë C, Jouan T, El Doueiri S, Faivre L, Bacq-Daian D, Isidor B, Genevieve D, Odent S, Philip N, Doco-Fenzy M, Lacombe D, Asensio ML, Deleuze JF, Binquet C, ,Thauvin-Robinet C, Lejeune C

BMC Health Serv Res. 2023 04 21;23(1):386

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Tran Mau-Them F, Overs A, Bruel AL, Duquet R, Thareau M, Denommé-Pichon AS, Vitobello A, Sorlin A, Safraou H, Nambot S, Delanne J, Moutton S, Racine C, Engel C, De Giraud d'Agay M, Lehalle D, Goldenberg A, Willems M, Coubes C, Genevieve D, Verloes A, Capri Y, Perrin L, Jacquemont ML, Lambert L, Lacaze E, Thevenon J, Hana N, Van-Gils J, Dubucs C, Bizaoui V, Gerard-Blanluet M, Lespinasse J, Mercier S, Guerrot AM, Maystadt I, Tisserant E, Faivre L, Philippe C, Duffourd Y, Thauvin-Robinet C

Front Genet. 2023 04 20;14:1122985

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A

Am J Hum Genet. 2023 04 17;:

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B

Genet Med. 2023 03 28;:100835

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Tran Mau-Them F, Delanne J, Denommé-Pichon AS, Safraou H, Bruel AL, Vitobello A, Garde A, Nambot S, Bourgon N, Racine C, Sorlin A, Moutton S, Marle N, Rousseau T, Sagot P, Simon E, Vincent-Delorme C, Boute O, Colson C, Petit F, Legendre M, Naudion S, Rooryck C, Prouteau C, Colin E, Guichet A, Ziegler A, Bonneau D, Morel G, Fradin M, Lavillaureix A, Quelin C, Pasquier L, Odent S, Vera G, Goldenberg A, Guerrot AM, Brehin AC, Putoux A, Attia J, Abel C, Blanchet P, Wells CF, Deiller C, Nizon M, Mercier S, Vincent M, Isidor B, Amiel J, Dard R, Godin M, Gruchy N, Jeanne M, Schaeffer E, Maillard PY, Payet F, Jacquemont ML, Francannet C, Sigaudy S, Bergot M, Tisserant E, Ascencio ML, Binquet C, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C

Front Genet. 2023 03 23;14:1099995

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, Drivas TG, Hennessy L, Raper A, Parenti I, Kaiser FJ, Kuechler A, Busk ØL, Islam L, Siedlik JA, Henderson LB, Juusola J, Person R, Schnur RE, Vitobello A, Banka S, Bhoj EJ, Stessman HAF

Sci Adv. 2023 03 10;9(10):eade1463

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogné B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L, Vitobello A

Front Cell Dev Biol. 2023 02 28;11:1021920

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

A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Mau-Them FT, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C, ,,,,Vitobello A, Vissers LELM, Faivre L

Genet Med. 2023 01 19;:100018

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

Garret P, Chevarin M, Vitobello A, Verdez S, Fournier C, Verloes A, Tisserant E, Vabres P, Prevel O, Philippe C, Denommé-Pichon AS, Bruel AL, Mau-Them FT, Safraou H, Boughalem A, Costa JM, Trost D, Thauvin-Robinet C, Faivre L, Duffourd Y

Eur J Hum Genet. 2022 12 1;:

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.

Verdez S, Thomas Q, Garret P, Verstuyft C, Tisserant E, Vitobello A, Mau-Them FT, Philippe C, Bardou M, Luu M, Bourredjem A, Callier P, Thauvin-Robinet C, Picard N, Faivre L, Duffourd Y

Pharmacogenomics J. 2022 12;22(5-6):258-263

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.

Delanne J, Lecat M, Blackburn PR, Klee E, Stumpel C, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner S, Lyons M, Poe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C

Eur J Med Genet. 2022 11 19;:104670

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S

Nat Commun. 2022 10 29;13(1):6470

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.

Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A

Front Cell Dev Biol. 2022 10 28;10:1021785

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Mazel B, Mallet D, Roucher-Boulez F, Signor CB, Bournez M, Darmency V, Bourgeois V, Poe C, El Khabbaz F, Vitobello A, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L, Nambot S

Am J Med Genet A. 2022 09 9;:

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;:

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A

Am J Hum Genet. 2022 08 23;:

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.

Mouka A, Arkoun B, Moison P, Drévillon L, Jarray R, Brisset S, Mayeur A, Bouligand J, Boland-Auge A, Deleuze JF, Yates F, Lemonnier T, Callier P, Duffourd Y, Nitschke P, Ollivier E, Bourdin A, De Vos J, Livera G, Tachdjian G, Maouche-Chrétien L, Tosca L

Sci Rep. 2022 08 22;12(1):14302

Evaluation of Next-Generation Sequencing Applied to and Epidemiological Study.

Bailly E, Valot S, Vincent A, Duffourd Y, Grangier N, Chevarin M, Costa D, Razakandrainibe R, Favennec L, Basmaciyan L, Dalle F

Pathogens. 2022 08 18;11(8):

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, Sorlin A, Nambot S, Delanne J, Chevarin M, Pöe C, Thevenon J, Lehalle D, Jean-Marçais N, Kuentz P, Lambert L, El Chehadeh S, Schaefer E, Willems M, Laffargue F, Francannet C, Fradin M, Gaillard D, Blesson S, Goldenberg A, Capri Y, Sagot P, Rousseau T, Simon E, Binquet C, Ascencio ML, Duffourd Y, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C

Eur J Hum Genet. 2022 08;30(8):967-975

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y

Am J Hum Genet. 2022 07 29;:

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

Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L

Am J Med Genet A. 2022 Apr 21;:

A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.

Thomas Q, Nambot S, Béjot Y, Philippe C, Faivre L, Duffourd Y, Thauvin-Robinet C, Dupont G

Alzheimer Dis Assoc Disord. 2022 Mar 30;:

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Tisserant E, Vitobello A, Callegarin D, Verdez S, Bruel AL, Aho Glele LS, Sorlin A, Viora-Dupont E, Konyukh M, Marle N, Nambot S, Moutton S, Racine C, Garde A, Delanne J, Tran-Mau-Them F, Philippe C, Kuentz P, Poulleau M, Payet M, Poe C, Thauvin-Robinet C, Faivre L, Mosca-Boidron AL, Thevenon J, Duffourd Y, Callier P

Ann Hum Genet. 2022 Feb 9;:

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

Tharreau M, Garde A, Marlin S, Morel G, Ernest S, Nambot S, Duffourd Y, Ternoy N, Duvillard C, Banka S, Philippe C, Thauvin-Robinet C, Mau-Them FT, Faivre L

Am J Med Genet A. 2022 Jan 21;:

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.

Lejeune C, Robert-Viard C, Meunier-Beillard N, Borel MA, Gourvès L, Staraci S, Soilly AL, Guillemin F, Seror V, Achit H, Bouctot M, Asensio ML, Briffaut AS, Delmas C, Bruel AL, Benoit A, Simon A, Gerard B, Hadj Abdallah H, Lyonnet S, Faivre L, Thauvin-Robinet C, Odent S, Heron D, Sanlaville D, Frebourg T, Muller J, Duffourd Y, Boland A, Deleuze JF, Espérou H, Binquet C, Dollfus H

Front Genet. 2022 ;13:852472

GM3 synthase deficiency in non-Amish patients.

Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C

Genet Med. 2021 Nov 30;:

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.

Hadouiri N, Thomas Q, Darmency V, Dulieu V, De Rougemont MM, Bruel AL, Duffourd Y, Lecoquierre F, Colomb B, Perez-Martin S, Ornetti P, Blanchard O, Sorlin A, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C

Clin Genet. 2021 Aug 25;:

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P

Genet Med. 2021 08;23(8):1484-1491

Recommendations for accurate genotyping of SARS-CoV-2 using amplicon-based sequencing of clinical samples.

Kubik S, Marques AC, Xing X, Silvery J, Bertelli C, De Maio F, Pournaras S, Burr T, Duffourd Y, Siemens H, Alloui C, Song L, Wenger Y, Saitta A, Macheret M, Smith EW, Menu P, Brayer M, Steinmetz LM, Si-Mohammed A, Chuisseu J, Stevens R, Constantoulakis P, Sali M, Greub G, Tiemann C, Pelechano V, Willig A, Xu Z

Clin Microbiol Infect. 2021 Jul;27(7):1036.e1-1036.e8

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, Béjot Y, Philippe C, Thauvin-Robinet C, Moutton S

J Med Genet. 2021 Mar 5;:

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study.

Binquet C, Lejeune C, Faivre L, Bouctot M, Asensio ML, Simon A, Deleuze JF, Boland A, Guillemin F, Seror V, Delmas C, Espérou H, Duffourd Y, Lyonnet S, Odent S, Heron D, Sanlaville D, Frebourg T, Gerard B, Dollfus H

Front Genet. 2021 ;12:766964

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K, ,Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N

Genet Med. 2020 11;22(11):1838-1850

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D

Eur J Hum Genet. 2019 11;27(11):1692-1700

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Rivière JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D

Genet Med. 2018 02;20(2):269-274

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

Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C

Eur J Hum Genet. 2018 01;26(1):143-148