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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F, Undiagnosed Diseases Network, Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, [...] Kreienkamp HJ
Nat Commun, 15(1):7909, 10 Sep 2024
Cited by: 0 articles | PMID: 39256359 | PMCID: PMC11387733
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Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, [...] Korb E
medRxiv, 02 Nov 2024
Cited by: 0 articles | PPR: PPR934149
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Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, [...] Isidor B
Genet Med, 26(6):101120, 10 Mar 2024
Cited by: 0 articles | PMID: 38469793 | PMCID: PMC11241549
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NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, Akbar N, Javed I, Asif M, Ahmad I, Ullah S, Satti HS, Khan R, Naeem M, Ali M, Rendu J, Fauré J, Dieterich K, Latypova X, [...] Liu C
Mol Genet Genomics, 297(6):1601-1613, 24 Aug 2022
Cited by: 1 article | PMID: 36002593
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Challenges of preconception genetic testing in France: A qualitative study.
Hoarau E, Latypova X, Jourdain M, Isidor B
Eur J Med Genet, 65(11):104606, 10 Sep 2022
Cited by: 0 articles | PMID: 36100158
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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, [...] Stewart GS
Nat Commun, 13(1):6664, 04 Nov 2022
Cited by: 16 articles | PMID: 36333305 | PMCID: PMC9636423
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Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care
Vecten M, Pion E, Bartoli M, Juntas Morales R, Sternberg D, Rendu J, Stojkovic T, Acquaviva Bourdain C, Métay C, Richard I, Cerino M, Milh M, Gorokhova S, Levy N, Latypova X, Bonne G, Biancalana V, Petit F, Molon A, [...] Krahn M
medRxiv, 16 May 2022
Cited by: 0 articles | PPR: PPR495704
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, [...] Klee EW
Genome Med, 14(1):62, 13 Jun 2022
Cited by: 4 articles | PMID: 35698242 | PMCID: PMC9195326
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, Latypova X, Bonne G, Biancalana V, Petit F, [...] Cossée M
Int J Mol Sci, 23(15):8506, 31 Jul 2022
Cited by: 0 articles | PMID: 35955641 | PMCID: PMC9369031
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The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
Dahan-Oliel N, Dieterich K, Rauch F, Bardai G, Blondell TN, Gustafson AG, Hamdy R, Latypova X, Shazand K, Giampietro PF, van Bosse H
Genes (Basel), 12(8):1220, 06 Aug 2021
Cited by: 3 articles | PMID: 34440395 | PMCID: PMC8391526
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Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.
Le Tanno P, Latypova X, Rendu J, Fauré J, Bourg V, Gauthier M, Billy-Lopez G, Jouk PS, Dieterich K
J Med Genet, 60(1):13-24, 07 Dec 2021
Cited by: 3 articles | PMID: 34876503
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A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.
Latypova X, Creadore SG, Dahan-Oliel N, Gustafson AG, Wei-Hung Hwang S, Bedard T, Shazand K, van Bosse HJP, Giampietro PF, Dieterich K
Genes (Basel), 12(7):1052, 08 Jul 2021
Cited by: 2 articles | PMID: 34356068 | PMCID: PMC8305424
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Letter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).
Latypova X, Dang X, Zhang J, Isidor B
Eur J Med Genet, 64(4):104179, 23 Feb 2021
Cited by: 1 article | PMID: 33636376
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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, [...] Isidor B
Am J Hum Genet, 108(5):929-941, 02 Apr 2021
Cited by: 15 articles | PMID: 33811806 | PMCID: PMC8206166
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Response to Hall et al.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, [...] Bamshad MJ
Am J Hum Genet, 107(6):1188-1189, 01 Dec 2020
Cited by: 0 articles | PMID: 33275912 | PMCID: PMC7820630
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New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Bauché S, Sureau A, Sternberg D, Rendu J, Buon C, Messéant J, Boëx M, Furling D, Fauré J, Latypova X, Gelot AB, Mayer M, Mary P, Whalen S, Fournier E, Cloix I, Remerand G, Laffargue F, Nougues MC, [...] Strochlic L
Neurol Genet, 6(6):e534, 03 Dec 2020
Cited by: 2 articles | PMID: 33659639 | PMCID: PMC7803339
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First French study relative to preconception genetic testing: 1500 general population participants' opinion.
Bonneau V, Nizon M, Latypova X, Gaultier A, Hoarau E, Bézieau S, Minguet G, Turrini M, Jourdain M, Isidor B
Orphanet J Rare Dis, 16(1):130, 12 Mar 2021
Cited by: 5 articles | PMID: 33712027 | PMCID: PMC7955630
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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, [...] Bamshad MJ
Am J Hum Genet, 107(2):293-310, 23 Jul 2020
Cited by: 17 articles | PMID: 32707087 | PMCID: PMC7413889
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Mutations inMYLPFcause a novel segmental amyoplasia that manifests as distal arthrogryposis
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, [...] Bamshad MJ
bioRxiv, 08 May 2020
Cited by: 0 articles | PPR: PPR159971
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, [...] Isidor B
Am J Hum Genet, 106(6):893-904, 07 May 2020
Cited by: 20 articles | PMID: 32386558 | PMCID: PMC7273529
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A dominant vimentin variant causes a rare syndrome with premature aging.
Cogné B, Bouameur JE, Hayot G, Latypova X, Pattabiraman S, Caillaud A, Si-Tayeb K, Besnard T, Küry S, Chariau C, Gaignerie A, David L, Bordure P, Kaganovich D, Bézieau S, Golzio C, Magin TM, Isidor B
Eur J Hum Genet, 28(9):1218-1230, 17 Feb 2020
Cited by: 17 articles | PMID: 32066935 | PMCID: PMC7609319
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RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, [...] Reversade B
Nature, 557(7706):564-569, 16 May 2018
Cited by: 90 articles | PMID: 29769720
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, [...] Campeau PM
Am J Hum Genet, 104(3):530-541, 28 Feb 2019
Cited by: 24 articles | PMID: 30827496 | PMCID: PMC6407527
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, [...] Küry S
Am J Hum Genet, 102(5):744-759, 12 Apr 2018
Cited by: 35 articles | PMID: 29656859 | PMCID: PMC5986661
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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Pacault M, Vincent M, Besnard T, Kannengiesser C, Bénéteau C, Barbarot S, Latypova X, Belabbas K, Lamazière A, Winer N, Joubert M, Bézieau S, Isidor B, Mercier S, Nizon M, Leclerc-Mercier S, Hadj-Rabia S, Dufernez F
Eur J Hum Genet, 26(12):1784-1790, 22 Aug 2018
Cited by: 2 articles | PMID: 30135486 | PMCID: PMC6244079
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1-25 of 42 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

Challenges of preconception genetic testing in France: A qualitative study.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.

Letter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015).

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Response to Hall et al.

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.

First French study relative to preconception genetic testing: 1500 general population participants' opinion.

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Mutations inMYLPFcause a novel segmental amyoplasia that manifests as distal arthrogryposis

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

A dominant vimentin variant causes a rare syndrome with premature aging.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

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