Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 6/7

Results: 12

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 553, doi. 10.1007/s00439-018-1910-3

By:

Liu, Jiaqi;
Zhou, Yangzhong;
Liu, Sen;
Song, Xiaofei;
Yang, Xin-Zhuang;
Fan, Yanhui;
Chen, Weisheng;
Akdemir, Zeynep Coban;
Yan, Zihui;
Zuo, Yuzhi;
Du, Renqian;
Liu, Zhenlei;
Yuan, Bo;
Zhao, Sen;
Liu, Gang;
Chen, Yixin;
Zhao, Yanxue;
Lin, Mao;
Zhu, Qiankun;
Niu, Yuchen

Publication type:

Article

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 543, doi. 10.1007/s00439-018-1909-9

By:

Kehrer-Sawatzki, Hildegard;
Kluwe, Lan;
Friedrich, Reinhard E.;
Summerer, Anna;
Schäfer, Eleonora;
Wahlländer, Ute;
Matthies, Cordula;
Gugel, Isabel;
Farschtschi, Said;
Hagel, Christian;
Cooper, David N.;
Mautner, Victor-Felix

Publication type:

Article

Admixture mapping and fine-mapping of birth weight loci in the Black Women’s Health Study.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 535, doi. 10.1007/s00439-018-1908-x

By:

Ochs-Balcom, Heather M.;
Shaw, Holly;
Preus, Leah;
Palmer, Julie R.;
Haddad, Stephen A.;
Rosenberg, Lynn;
Ruiz-Narváez, Edward A.

Publication type:

Article

Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 521, doi. 10.1007/s00439-018-1906-z

By:

Yamaguchi-Kabata, Yumi;
Morihara, Takashi;
Ohara, Tomoyuki;
Ninomiya, Toshiharu;
Takahashi, Atsushi;
Akatsu, Hiroyasu;
Hashizume, Yoshio;
Hayashi, Noriyuki;
Shigemizu, Daichi;
Boroevich, Keith A.;
Ikeda, Manabu;
Kubo, Michiaki;
Takeda, Masatoshi;
Tsunoda, Tatsuhiko

Publication type:

Article

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 511, doi. 10.1007/s00439-018-1904-1

By:

Summerer, Anna;
Mautner, Victor-Felix;
Upadhyaya, Meena;
Claes, Kathleen B. M.;
Högel, Josef;
Cooper, David N.;
Messiaen, Ludwine;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 487, doi. 10.1007/s00439-018-1902-3

By:

Pemberton, Trevor J.;
Verdu, Paul;
Becker, Noémie S.;
Willer, Cristen J.;
Hewlett, Barry S.;
Le Bomin, Sylvie;
Froment, Alain;
Rosenberg, Noah A.;
Heyer, Evelyne

Publication type:

Article

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 479, doi. 10.1007/s00439-018-1901-4

By:

Bademci, Guney;
Abad, Clemer;
Incesulu, Armagan;
Rad, Abolfazl;
Alper, Ozgul;
Kolb, Susanne M.;
Cengiz, Filiz B.;
Diaz-Horta, Oscar;
Silan, Fatma;
Mihci, Ercan;
Ocak, Emre;
Najafi, Maryam;
Maroofian, Reza;
Yilmaz, Elanur;
Nur, Banu G.;
Duman, Duygu;
Guo, Shengru;
Sant, David W.;
Wang, Gaofeng;
Monje, Paula V.

Publication type:

Article

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 471, doi. 10.1007/s00439-018-1899-7

By:

Schrauwen, Isabelle;
Chakchouk, Imen;
Liaqat, Khurram;
Jan, Abid;
Nasir, Abdul;
Hussain, Shabir;
Nickerson, Deborah A.;
Bamshad, Michael J.;
Ullah, Asmat;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 459, doi. 10.1007/s00439-018-1898-8

By:

Schrauwen, Isabelle;
Kari, Elina;
Mattox, Jacob;
Llaci, Lorida;
Smeeton, Joanna;
Naymik, Marcus;
Raible, David W.;
Knowles, James A.;
Crump, J. Gage;
Huentelman, Matthew J.;
Friedman, Rick A.

Publication type:

Article

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 447, doi. 10.1007/s00439-018-1897-9

By:

Chekuri, Anil;
Guru, Aditya A.;
Biswas, Pooja;
Branham, Kari;
Borooah, Shyamanga;
Soto-Hermida, Angel;
Hicks, Michael;
Khan, Naheed W.;
Matsui, Hiroko;
Alapati, Akhila;
Raghavendra, Pongali B.;
Roosing, Susanne;
Sarangapani, Sripriya;
Mathavan, Sinnakaruppan;
Telenti, Amalio;
Heckenlively, John R.;
Riazuddin, S. Amer;
Frazer, Kelly A.;
Sieving, Paul A.;
Ayyagari, Radha

Publication type:

Article

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 437, doi. 10.1007/s00439-018-1895-y

By:

Wang, Li;
Feng, Yong;
Yan, Denise;
Qin, Litao;
Grati, M’hamed;
Mittal, Rahul;
Li, Tao;
Sundhari, Abhiraami Kannan;
Liu, Yalan;
Chapagain, Prem;
Blanton, Susan H.;
Liao, Shixiu;
Liu, Xuezhong

Publication type:

Article

Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference.

Published in:

Human Genetics, 2018, v. 137, n. 6/7, p. 431, doi. 10.1007/s00439-018-1894-z

By:

Lin, Yuan;
Liu, Lu;
Yang, Sen;
Li, Yun;
Lin, Dongxin;
Zhang, Xuejun;
Yin, Xianyong

Publication type:

Article