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Items: 18

1.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Rehman AU, Najafi M, Kambouris M, Gazali LA, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Jasmi FA, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Madani GK, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M.

Hum Mutat. 2018 Dec 6. doi: 10.1002/humu.23694. [Epub ahead of print]

PMID:
30520571
2.

Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data.

Schoeman EM, Roulis EV, Perry MA, Flower RL, Hyland CA.

Transfusion. 2018 Dec 6. doi: 10.1111/trf.15047. [Epub ahead of print]

PMID:
30520525
3.

CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.

Aspit L, Levitas A, Etzion S, Krymko H, Slanovic L, Zarivach R, Etzion Y, Parvari R.

J Med Genet. 2018 Dec 5. pii: jmedgenet-2018-105498. doi: 10.1136/jmedgenet-2018-105498. [Epub ahead of print]

PMID:
30518548
4.

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

Fu C, Luo S, Zhang Y, Fan X, D'Gama AM, Zhang X, Zheng H, Su J, Li C, Luo J, Agrawal PB, Li Q, Chen S.

Clin Chim Acta. 2018 Nov 30. pii: S0009-8981(18)30616-8. doi: 10.1016/j.cca.2018.11.035. [Epub ahead of print]

PMID:
30508507
5.

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium ; GoNL Consortium , Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V.

Brain. 2018 Nov 30. doi: 10.1093/brain/awy290. [Epub ahead of print]

PMID:
30508070
6.

Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family.

Yang N, Leng Y, Dai S, Chen C, Liu C, Cao L.

Eur J Gastroenterol Hepatol. 2018 Nov 30. doi: 10.1097/MEG.0000000000001295. [Epub ahead of print]

PMID:
30507656
7.

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.

Felice V, Abhyankar A, Jobanputra V.

Methods Mol Biol. 2019;1885:267-285. doi: 10.1007/978-1-4939-8889-1_18.

PMID:
30506204
8.

Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders.

Zimmerman RS, Eccles J, Jalas C, Treff NR, Scott RT Jr.

Methods Mol Biol. 2019;1885:61-71. doi: 10.1007/978-1-4939-8889-1_4.

PMID:
30506190
9.

Traditional Prenatal Diagnosis: Past to Present.

Levy B, Stosic M.

Methods Mol Biol. 2019;1885:3-22. doi: 10.1007/978-1-4939-8889-1_1.

PMID:
30506187
10.

Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper.

Pourreza MR, Mohammadi H, Sadeghian L, Asgharzadeh S, Sehhati M, Tabatabaiefar MA.

Adv Biomed Res. 2018 Oct 31;7:141. doi: 10.4103/abr.abr_80_18. eCollection 2018.

11.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE.

Genet Med. 2018 Dec 3. doi: 10.1038/s41436-018-0380-2. [Epub ahead of print]

PMID:
30504930
12.

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.

Zhang W, Li D, Wei S, Guo T, Wang J, Luo H, Yang Y, Tan Z.

J Hum Genet. 2018 Nov 30. doi: 10.1038/s10038-018-0540-x. [Epub ahead of print]

PMID:
30504913
13.

Ethical conundrums in pediatric genomics.

Rotz SJ, Kodish E.

Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):301-306. doi: 10.1182/asheducation-2018.1.301. Review.

PMID:
30504324
14.

TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.

Miura S, Kosaka K, Nomura T, Nagata S, Shimojo T, Morikawa T, Fujioka R, Harada M, Taniwaki T, Shibata H.

Eur J Med Genet. 2018 Nov 30. pii: S1769-7212(18)30337-9. doi: 10.1016/j.ejmg.2018.11.028. [Epub ahead of print]

PMID:
30503856
15.

A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions.

Cheung R, Insigne KD, Yao D, Burghard CP, Wang J, Hsiao YE, Jones EM, Goodman DB, Xiao X, Kosuri S.

Mol Cell. 2018 Nov 8. pii: S1097-2765(18)30897-9. doi: 10.1016/j.molcel.2018.10.037. [Epub ahead of print]

PMID:
30503770
16.

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.

Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J; Alzheimer's Disease Sequencing Project, Mayeux R, Haines JL, Schellenberg GD, Pericak-Vance MA, Lunetta KL, Farrer LA.

Alzheimers Dement. 2018 Nov 29. pii: S1552-5260(18)33579-9. doi: 10.1016/j.jalz.2018.10.005. [Epub ahead of print]

PMID:
30503768
17.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29.

PMID:
30503522
18.

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.

Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M.

Am J Hum Genet. 2018 Dec 6;103(6):858-873. doi: 10.1016/j.ajhg.2018.10.015. Epub 2018 Nov 29.

PMID:
30503517

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