Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 4

Results: 6

Genotype imputation performance of three reference panels using African ancestry individuals.
Published in:
Human Genetics, 2018, v. 137, n. 4, p. 281, doi. 10.1007/s00439-018-1881-4
By:
- Vergara, Candelaria;
- Parker, Margaret M.;
- Franco, Liliana;
- Cho, Michael H.;
- Valencia-Duarte, Ana V.;
- Beaty, Terri H.;
- Duggal, Priya
Publication type:
Article
<italic>ELMOD3</italic>, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Published in:
Human Genetics, 2018, v. 137, n. 4, p. 329, doi. 10.1007/s00439-018-1885-0
By:
- Li, Wu;
- Sun, Jie;
- Ling, Jie;
- Li, Jiada;
- He, Chufeng;
- Liu, Yalan;
- Chen, Hongsheng;
- Men, Meichao;
- Niu, Zhijie;
- Deng, Yuyuan;
- Li, Meng;
- Li, Taoxi;
- Wen, Jie;
- Sang, Shushan;
- Li, Haibo;
- Wan, Zhengqing;
- Richard, Elodie M.;
- Chapagain, Prem;
- Yan, Denise;
- Liu, Xue Zhong
Publication type:
Article
A zebrafish model of <italic>foxe3</italic> deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.
Published in:
Human Genetics, 2018, v. 137, n. 4, p. 315, doi. 10.1007/s00439-018-1884-1
By:
- Krall, M.;
- Htun, S.;
- Anand, D.;
- Hart, D.;
- Lachke, S. A.;
- Slavotinek, A. M.
Publication type:
Article
Complement receptor 1 gene (<italic>CR1</italic>) intragenic duplication and risk of Alzheimer’s disease.
Published in:
Human Genetics, 2018, v. 137, n. 4, p. 305, doi. 10.1007/s00439-018-1883-2
By:
- Kucukkilic, Ezgi;
- Brookes, Keeley;
- Barber, Imelda;
- Guetta-Baranes, Tamar;
- ARUK Consortium;
- Morgan, Kevin;
- Hollox, Edward J.
Publication type:
Article
Loss of function mutations in <italic>VARS</italic> encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Published in:
Human Genetics, 2018, v. 137, n. 4, p. 293, doi. 10.1007/s00439-018-1882-3
By:
- Stephen, Joshi;
- Nampoothiri, Sheela;
- Banerjee, Aditi;
- Tolman, Nathanial J.;
- Penninger, Josef Martin;
- Elling, Ullrich;
- Agu, Chukwuma A.;
- Burke, John D.;
- Devadathan, Kalpana;
- Kannan, Rajesh;
- Huang, Yan;
- Steinbach, Peter J.;
- Martinis, Susan A.;
- Gahl, William A.;
- Malicdan, May Christine V.
Publication type:
Article
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
Published in:
Human Genetics, 2018, v. 137, n. 4, p. 343, doi. 10.1007/s00439-018-1886-z
By:
- Lencz, Todd;
- Yu, Jin;
- Palmer, Cameron;
- Carmi, Shai;
- Ben-Avraham, Danny;
- Barzilai, Nir;
- Bressman, Susan;
- Darvasi, Ariel;
- Cho, Judy H.;
- Clark, Lorraine N.;
- Gümüş, Zeynep H.;
- Joseph, Vijai;
- Klein, Robert;
- Lipkin, Steven;
- Offit, Kenneth;
- Ostrer, Harry;
- Ozelius, Laurie J.;
- Peter, Inga;
- Atzmon, Gil;
- Pe’er, Itsik
Publication type:
Article

Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 4

Genotype imputation performance of three reference panels using African ancestry individuals.

<italic>ELMOD3</italic>, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.

A zebrafish model of <italic>foxe3</italic> deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.

Complement receptor 1 gene (<italic>CR1</italic>) intragenic duplication and risk of Alzheimer’s disease.

Loss of function mutations in <italic>VARS</italic> encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.