Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 9

Results: 8

Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases.

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 679, doi. 10.1007/s00439-018-1933-9

By:

Cai, Bincui;
Sun, Shuo;
Li, Zhiqing;
Zhang, Xiaomin;
Ke, Yifeng;
Yang, Jin;
Li, Xiaorong

Publication type:

Article

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5

By:

Bramswig, Nuria C.;
Bertoli-Avella, Aida M.;
Albrecht, Beate;
Al Aqeel, Aida I.;
Alhashem, Amal;
Al-Sannaa, Nouriya;
Bah, Maissa;
Bröhl, Katharina;
Depienne, Christel;
Dorison, Nathalie;
Doummar, Diane;
Ehmke, Nadja;
Elbendary, Hasnaa M.;
Gorokhova, Svetlana;
Héron, Delphine;
Horn, Denise;
James, Kiely;
Keren, Boris;
Kuechler, Alma;
Ismail, Samira

Publication type:

Article

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 735, doi. 10.1007/s00439-018-1928-6

By:

Santos-Cortez, Regie Lyn P.;
Khan, Valeed;
Khan, Falak Sher;
Mughal, Zaib-un-Nisa;
Chakchouk, Imen;
Lee, Kwanghyuk;
Rasheed, Memoona;
Hamza, Rifat;
Acharya, Anushree;
Ullah, Ehsan;
Saqib, Muhammad Arif Nadeem;
Abbe, Izoduwa;
Ali, Ghazanfar;
Hassan, Muhammad Jawad;
Khan, Saadullah;
Azeem, Zahid;
Ullah, Irfan;
Bamshad, Michael J.;
Nickerson, Deborah A.;
Schrauwen, Isabelle

Publication type:

Article

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 723, doi. 10.1007/s00439-018-1927-7

By:

Schiff, E. R.;
Frampton, M.;
Ben-Yosef, N.;
Avila, B. E.;
Semplici, F.;
Pontikos, N.;
Bloom, S. L.;
McCartney, S. A.;
Vega, R.;
Lovat, L. B.;
Wood, E.;
Hart, A.;
Israeli, E.;
Crespi, D.;
Furman, M. A.;
Mann, S.;
Murray, C. D.;
Segal, A. W.;
Levine, A. P.

Publication type:

Article

Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression.

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 717, doi. 10.1007/s00439-018-1925-9

By:

Devanna, Paolo;
van de Vorst, Maartje;
Pfundt, Rolph;
Gilissen, Christian;
Vernes, Sonja C.

Publication type:

Article

Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas.

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 665, doi. 10.1007/s00439-018-1916-x

By:

Weile, Jochen;
Roth, Frederick P.

Publication type:

Article

Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 705, doi. 10.1007/s00439-018-1915-y

By:

Kishore, Amit;
Petersen, Britt-Sabina;
Nutsua, Marcel;
Müller-Quernheim, Joachim;
Franke, Andre;
Fischer, Annegret;
Schreiber, Stefan;
Petrek, Martin

Publication type:

Article

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y

By:

Du, Renqian;
Dinckan, Nuriye;
Song, Xiaofei;
Coban-Akdemir, Zeynep;
Jhangiani, Shalini N.;
Guven, Yeliz;
Aktoren, Oya;
Kayserili, Hulya;
Petty, Lauren E.;
Muzny, Donna M.;
Below, Jennifer E.;
Boerwinkle, Eric;
Wu, Nan;
Gibbs, Richard A.;
Posey, Jennifer E.;
Lupski, James R.;
Letra, Ariadne;
Uyguner, Z. Oya

Publication type:

Article