Format
Sort by
Items per page

Send to

Choose Destination

Best matches for exome sequencing:

Search results

Items: 1 to 20 of 14813

1.

Whole-exome sequencing identified a TBX6 loss-of-function mutation in a patient with distal vaginal atresia.

Chu C, Li L, Lu D, Duan AH, Luo LJ, Li S, Yin C.

J Pediatr Adolesc Gynecol. 2019 Jun 21. pii: S1083-3188(19)30218-9. doi: 10.1016/j.jpag.2019.06.006. [Epub ahead of print]

PMID:
31233831
2.

Genomic Profiling of Vulvar Lichen Sclerosus Patients Shows Possible Pathogenetic Disease Mechanisms.

Haefner HK, Welch KC, Rolston AM, Koeppe ES, Stoffel EM, Kiel MJ, Berger MB.

J Low Genit Tract Dis. 2019 Jul;23(3):214-219. doi: 10.1097/LGT.0000000000000482.

PMID:
31232912
3.

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.

Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H.

Mol Genet Genomic Med. 2019 Jun 23:e814. doi: 10.1002/mgg3.814. [Epub ahead of print]

4.

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.

Thompson R, Papakonstantinou Ntalis A, Beltran S, Töpf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmüller H.

Hum Mutat. 2019 Jun 23. doi: 10.1002/humu.23792. [Epub ahead of print]

PMID:
31231902
5.

Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss.

Xia W, Hu J, Ma J, Huang J, Wang X, Jiang N, Zhang J, Ma Z, Ma D.

Clin Genet. 2019 Jun 23. doi: 10.1111/cge.13590. [Epub ahead of print]

PMID:
31231791
6.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N; Orphanomix Physician’s Group, Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C.

Eur J Hum Genet. 2019 Jun 23. doi: 10.1038/s41431-019-0442-1. [Epub ahead of print]

PMID:
31231135
7.

Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation.

Moteki Y, Akagawa H, Niimi Y, Okada Y, Kawamata T.

Brain Dev. 2019 Jun 20. pii: S0387-7604(19)30116-0. doi: 10.1016/j.braindev.2019.06.003. [Epub ahead of print]

PMID:
31230861
8.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR.

Am J Hum Genet. 2019 Jun 18. pii: S0002-9297(19)30202-2. doi: 10.1016/j.ajhg.2019.05.015. [Epub ahead of print]

PMID:
31230720
9.

Identification of mobile retrocopies during genetic testing: consequences for routine diagnosis.

Chatron N, Cassinari K, Quenez O, Baert-Desurmont S, Bardel C, Buisine MP, Calpena E, Capri Y, Galbany JC, Diguet F, Edery P, Isidor B, Labalme A, Le Caignec C, Lévy J, Lecoquierre F, Lindenbaum P, Pichon O, Rollat-Farnier PA, Simonet T, Saugier-Veber P, Tabet AC, Toutain A, Wilkie AOM, Lesca G, Sanlaville D, Nicolas G, Schluth-Bolard C.

Hum Mutat. 2019 Jun 23. doi: 10.1002/humu.23845. [Epub ahead of print]

PMID:
31230393
10.

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, Valivullah Z, Lek M, Mane S, Lifton RP, Tasic V, Shril S, Hildebrandt F.

Hum Genet. 2019 Jun 22. doi: 10.1007/s00439-019-02042-4. [Epub ahead of print]

PMID:
31230195
11.

Molecular genetic study of 59 Chinese Oculocutaneous albinism families.

Luo D, Linpeng S, Zeng L, Tan H, Li Z, Wu L.

Eur J Med Genet. 2019 Jun 20:103709. doi: 10.1016/j.ejmg.2019.103709. [Epub ahead of print]

PMID:
31229681
12.

Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix.

Zhu R, Wu H, Chen B, Pang J, Huo Z.

Diagn Pathol. 2019 Jun 22;14(1):64. doi: 10.1186/s13000-019-0837-x.

13.

Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing.

Musolf AM, Ho WSC, Long KA, Zhuang Z, Argersinger DP, Sun H, Moiz BA, Simpson CL, Mendelevich EG, Bogdanov EI, Bailey-Wilson JE, Heiss JD.

Eur J Hum Genet. 2019 Jun 21. doi: 10.1038/s41431-019-0457-7. [Epub ahead of print]

PMID:
31227808
14.

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP.

Sci Rep. 2019 Jun 21;9(1):9038. doi: 10.1038/s41598-019-44987-6.

15.

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

Yiş U, Hiz S, Güneş S, Diniz G, Baydan F, Töpf A, Sonmezler E, Lochmüller H, Horvath R, Oktay Y.

J Neuromuscul Dis. 2019 Jun 20. doi: 10.3233/JND-190383. [Epub ahead of print]

PMID:
31227654
16.

Integrated multiomic analysis reveals comprehensive tumour heterogeneity and novel immunophenotypic classification in hepatocellular carcinomas.

Zhang Q, Lou Y, Yang J, Wang J, Feng J, Zhao Y, Wang L, Huang X, Fu Q, Ye M, Zhang X, Chen Y, Ma C, Ge H, Wang J, Wu J, Wei T, Chen Q, Wu J, Yu C, Xiao Y, Feng X, Guo G, Liang T, Bai X.

Gut. 2019 Jun 21. pii: gutjnl-2019-318912. doi: 10.1136/gutjnl-2019-318912. [Epub ahead of print]

17.

Evolutionary routes in metastatic uveal melanomas depend on MBD4 alterations.

Rodrigues M, Mobuchon L, Houy A, Alsafadi S, Baulande S, Mariani O, Marande B, Ait Rais K, Van der Kooij MK, Kapiteijn EHW, Gassama S, Gardrat S, Barnhill R, Servois V, Dendale R, Putterman M, Tick S, Piperno-Neumann S, Cassoux N, Pierron G, Waterfall JJ, Roman-Roman S, Mariani P, Stern MH.

Clin Cancer Res. 2019 Jun 21. pii: clincanres.1215.2019. doi: 10.1158/1078-0432.CCR-19-1215. [Epub ahead of print]

PMID:
31227496
18.

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.

Chen YJ, Wang MW, Dong EL, Lin XH, Wang N, Zhang ZQ, Lin X, Chen WJ.

Parkinsonism Relat Disord. 2019 Jun 9. pii: S1353-8020(19)30269-X. doi: 10.1016/j.parkreldis.2019.06.008. [Epub ahead of print]

PMID:
31227335
19.

Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects.

Russell MW, Moldenhauer JS, Rychik J, Burnham NB, Zullo E, Parry SI, Simmons RA, Elovitz MA, Nicolson SC, Linn RL, Johnson MP, Yu S, Sampson MG, Hakonarson H, Gaynor JW.

J Pediatr. 2019 Jun 18. pii: S0022-3476(19)30578-5. doi: 10.1016/j.jpeds.2019.05.013. [Epub ahead of print]

PMID:
31227283
20.

A germline mutation in Rab43 gene identified from a cancer family predisposes to a hereditary liver-colon cancer syndrome.

Jiang Y, Sun Y, Hu J, Yu N, Liu H, Fan J, Ning X, Li Y, Liu B, Sun Y, Zhang J, Qiu X, Fu S, Zhou C, Xu H.

BMC Cancer. 2019 Jun 21;19(1):613. doi: 10.1186/s12885-019-5845-4.

Supplemental Content

Loading ...
Support Center