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
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
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
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 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
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