Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 1

Results: 11

Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 1, doi. 10.1007/s00439-017-1865-9

By:

Sikela, J. M.;
Searles Quick, V. B.

Publication type:

Article

De novo variants in <italic>SETD1B</italic> are associated with intellectual disability, epilepsy and autism.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 95, doi. 10.1007/s00439-017-1863-y

By:

Hiraide, Takuya;
Nakashima, Mitsuko;
Yamoto, Kaori;
Fukuda, Tokiko;
Kato, Mitsuhiro;
Ikeda, Hiroko;
Sugie, Yoko;
Aoto, Kazushi;
Kaname, Tadashi;
Nakabayashi, Kazuhiko;
Ogata, Tsutomu;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

Principles and methods of in-silico prioritization of non-coding regulatory variants.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 15, doi. 10.1007/s00439-017-1861-0

By:

Lee, Phil H.;
Lee, Christian;
Li, Xihao;
Wee, Brian;
Dwivedi, Tushar;
Daly, Mark

Publication type:

Article

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Published in:

2018

By:

Anazi, Shams;
Maddirevula, Sateesh;
Salpietro, Vincenzo;
Asi, Yasmine T.;
Alsahli, Saud;
Alhashem, Amal;
Shamseldin, Hanan E.;
AlZahrani, Fatema;
Patel, Nisha;
Ibrahim, Niema;
Abdulwahab, Firdous M.;
Hashem, Mais;
Alhashmi, Nadia;
Al Murshedi, Fathiya;
Al Kindy, Adila;
Alshaer, Ahmad;
Rumayyan, Ahmed;
Al Tala, Saeed;
Kurdi, Wesam;
Alsaman, Abdulaziz

Publication type:

Correction Notice

Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 85, doi. 10.1007/s00439-017-1858-8

By:

Li, Chang;
Grove, Megan L.;
Yu, Bing;
Jones, Barbara C.;
Morrison, Alanna;
Boerwinkle, Eric;
Liu, Xiaoming

Publication type:

Article

Pleiotropy of cardiometabolic syndrome with obesity-related anthropometric traits determined using empirically derived kinships from the Busselton Health Study.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 45, doi. 10.1007/s00439-017-1856-x

By:

Cadby, Gemma;
Melton, Phillip E.;
McCarthy, Nina S.;
Almeida, Marcio;
Williams-Blangero, Sarah;
Curran, Joanne E.;
VandeBerg, John L.;
Hui, Jennie;
Beilby, John;
Musk, A. W.;
James, Alan L.;
Hung, Joseph;
Blangero, John;
Moses, Eric K.

Publication type:

Article

Copy number variation arising from gene conversion on the human Y chromosome.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 73, doi. 10.1007/s00439-017-1857-9

By:

Shi, Wentao;
Massaia, Andrea;
Louzada, Sandra;
Banerjee, Ruby;
Hallast, Pille;
Chen, Yuan;
Bergström, Anders;
Gu, Yong;
Leonard, Steven;
Quail, Michael A.;
Ayub, Qasim;
Yang, Fengtang;
Tyler-Smith, Chris;
Xue, Yali

Publication type:

Article

Authorization of tissues from deceased patients for genetic research.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 63, doi. 10.1007/s00439-017-1855-y

By:

Wilson-Genderson, Maureen;
Barker, K. Laura;
Gardiner, Heather M.;
Mosavel, Maghboeba;
Thomas, Jeffrey;
Siminoff, Laura A.

Publication type:

Article

The ubiquity of pleiotropy in human disease.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 39, doi. 10.1007/s00439-017-1854-z

By:

Chesmore, Kevin;
Bartlett, Jacquelaine;
Williams, Scott M.

Publication type:

Article

3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 55, doi. 10.1007/s00439-017-1853-0

By:

Schilit, Samantha L. P.;
Morton, Cynthia C.

Publication type:

Article

Actionable secondary findings from whole-genome sequencing of 954 East Asians.

Published in:

Human Genetics, 2018, v. 137, n. 1, p. 31, doi. 10.1007/s00439-017-1852-1

By:

Tang, Clara Sze-man;
Dattani, Saloni;
So, Man-ting;
Cherny, Stacey S.;
Tam, Paul K. H.;
Sham, Pak C.;
Garcia-Barcelo, Maria-Mercè

Publication type:

Article