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

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;:

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.

Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens AAHJ, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R

Sci Rep. 2021 Aug 12;11(1):16412

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A

Genet Med. 2021 Jun 10;:

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.

Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A

Sci Adv. 2021 Feb;7(6):

Periodontal disorders in a cohort of patients with Cohen syndrome.

Lafon A, Faivre L, Seux D, Gautier E, Duplomb L, Grogogeat B, Marcelet A, Laforest L

Spec Care Dentist. 2020 Nov 17;:

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

Lhussiez V, Dubus E, Cesar Q, Acar N, Nandrot EF, Simonutti M, Audo I, Lizé E, Nguyen S, Geissler A, Bouchot A, Ansar M, Picaud S, Thauvin-Robinet C, Olivier-Faivre L, Duplomb L, Da Costa R

Invest. Ophthalmol. Vis. Sci.. 2020 Sep 1;61(11):18

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

Da Costa R, De Almeida S, Chevarin M, Hadj-Rabia S, Leclerc-Mercier S, Thauvin-Robinet C, Garrido C, Faivre L, Vabres P, Duplomb L, Jego G

Biochem. Biophys. Res. Commun.. 2020 Jun 30;:

mutations in the X-linked gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L

J. Med. Genet.. 2020 May 14;:

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L

J. Med. Genet.. 2020 Apr 10;:

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A

Clin. Genet.. 2020 Jan 29;:

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.

Da Costa R, Bordessoules M, Guilleman M, Carmignac V, Lhussiez V, Courot H, Bataille A, Chlémaire A, Bruno C, Fauque P, Thauvin C, Faivre L, Duplomb L

Cell. Mol. Life Sci.. 2019 Jun 19;:

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E

J. Mol. Med.. 2019 Mar 7;:

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A

Genet. Med.. 2018 Aug 31;:

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant induced polycystic kidney disease.

Duplomb L, Droin N, Bouchot O, Thauvin CR, Bruel AL, Thevenon J, Callier P, Meurice G, Pata-Merci N, Loffroy R, Vandroux D, Da Costa R, Carmignac V, Solary E, Faivre L

Hum. Mol. Genet.. 2017 Sep;:

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C

Clin. Genet.. 2016 Dec;90(6):509-517

Extracellular HSP110 skews macrophage polarization in colorectal cancer.

Berthenet K, Boudesco C, Collura A, Svrcek M, Richaud S, Hammann A, Causse S, Yousfi N, Wanherdrick K, Duplomb L, Duval A, Garrido C, Jego G

Oncoimmunology. 2016 Jul;5(7):e1170264

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.

Thevenon J, Souchay C, Seabold GK, Dygai-Cochet I, Callier P, Gay S, Corbin L, Duplomb L, Thauvin-Robinet C, Masurel-Paulet A, El Chehadeh S, Avila M, Minot D, Guedj E, Chancenotte S, Bonnet M, Lehalle D, Wang YX, Kuentz P, Huet F, Mosca-Boidron AL, Marle N, Petralia RS, Faivre L

Eur J Hum Genet. 2015 Oct 21

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Riviere JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T

Eur J Hum Genet. 2015 Sep 23

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Limoge F, Faivre L, Gautier T, Petit JM, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi MC, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L

Hum Mol Genet. 2015 Sep 10. pii: ddv366.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

El Chehadeh S, Bonnet C, Callier P, Beri M, Dupre T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C

JIMD Rep. 2015;20:45-55

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C

Am J Med Genet A. 2014 Dec;164A(12):3027-34

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Riviere JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L

Eur J Hum Genet. 2014 Oct 15

Dual regulation of SPI1/PU.1 transcription factor by heat shock factor 1 (HSF1) during macrophage differentiation of monocytes.

Jego G, Lanneau D, De Thonel A, Berthenet K, Hazoumé A, Droin N, Hamman A, Girodon F, Bellaye PS, Wettstein G, Jacquel A, Duplomb L, Le Mouël A, Papanayotou C, Christians E, Bonniaud P, Lallemand-Mezger V, Solary E, Garrido C

Leukemia. 2014 Aug;28(8):1676-86

Cohen syndrome is associated with major glycosylation defects.

Duplomb L, Duvet S, Picot D, Jego G, El Chehadeh-Djebbar S, Marle N, Gigot N, Aral B, Carmignac V, Thevenon J, Lopez E, Riviere JB, Klein A, Philippe C, Droin N, Blair E, Girodon F, Donadieu J, Bellanne-Chantelot C, Delva L, Michalski JC, Solary E, Faivre L, Foulquier F, Thauvin-Robinet C

Hum Mol Genet. 2014 May 1;23(9):2391-9

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C

Am J Med Genet A. 2014 Feb;164A(2):522-7

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L

Eur J Hum Genet. 2013 Jul;21(7):736-42

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Heron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Riviere JB

Am J Hum Genet. 2013 Jul 11;93(1):141-9

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C

J Med Genet. 2012 Dec;49(12):731-6

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Carmignac V, Thevenon J, Ades L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Riviere JB, Boileau C, De Paepe A, Faivre L

Am J Hum Genet. 2012 Nov 2;91(5):950-7

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Beri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C

J Med Genet. 2012 Jun;49(6):400-8

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L

Am J Med Genet A. 2012 Feb;158A(2):333-9

GLI3 is rarely implicated in OFD syndromes with midline abnormalities.

Avila M, Gigot N, Aral B, Callier P, Gautier E, Thevenon J, Pasquier L, Lopez E, Gueneau L, Duplomb L, Goldenberg A, Baumann C, Cormier V, Marlin S, Masurel-Paulet A, Huet F, Attie-Bitach T, Faivre L, Thauvin-Robinet C

Hum Mutat. 2011 Nov;32(11):1332-3

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