Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 10

Results: 8

A founder DBR1 variant causes a lethal form of congenital ichthyosis.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1491, doi. 10.1007/s00439-023-02597-3

By:

Shamseldin, Hanan E.;
Sadagopan, Mukunth;
Martini, Javier;
Al-Ali, Ruslan;
Radefeldt, Mandy;
Ataei, Mojgan;
Lemke, Sabrina;
Rahbeeni, Zuhair;
Al Mutairi, Fuad;
Ababneh, Faroug;
AlRukban, Hadeel A.;
Abdulwahab, Firdous;
Alhajj, Saleh Mohammed;
Bauer, Peter;
Bertoli-Avella, Aida;
Alkuraya, Fowzan S.

Publication type:

Article

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1531, doi. 10.1007/s00439-023-02596-4

By:

Curtis, Sarah W.;
Carlson, Jenna C.;
Beaty, Terri H.;
Murray, Jeffrey C.;
Weinberg, Seth M.;
Marazita, Mary L.;
Cotney, Justin L.;
Cutler, David J.;
Epstein, Michael P.;
Leslie, Elizabeth J.

Publication type:

Article

The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1429, doi. 10.1007/s00439-023-02595-5

By:

Ford, Charles L.;
Riggs, William J.;
Quigley, Tera;
Keifer Jr., Orion P.;
Whitton, Jonathon P.;
Valayannopoulos, Vassili

Publication type:

Article

Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1519, doi. 10.1007/s00439-023-02594-6

By:

Chung, Cheuk Yan;
Pan, Dora Jue;
Paracchini, Silvia;
Jiang, Wenxuan;
So, Hon-Cheong;
McBride, Catherine;
Maurer, Urs;
Zheng, Mo;
Choy, Kwong Wai

Publication type:

Article

Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1477, doi. 10.1007/s00439-023-02593-7

By:

Anwar, Mohammad Yaser;
Graff, Mariaelisa;
Highland, Heather M.;
Smit, Roelof;
Wang, Zhe;
Buchanan, Victoria L.;
Young, Kristin L.;
Kenny, Eimear E.;
Fernandez-Rhodes, Lindsay;
Liu, Simin;
Assimes, Themistocles;
Garcia, David O.;
Daeeun, Kim;
Gignoux, Christopher R.;
Justice, Anne E.;
Haiman, Christopher A.;
Buyske, Steve;
Peters, Ulrike;
Loos, Ruth J. F.;
Kooperberg, Charles

Publication type:

Article

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1451, doi. 10.1007/s00439-023-02591-9

By:

Sugimoto, Takeshi;
Inagaki, Hidehito;
Mariya, Tasuku;
Kawamura, Rie;
Taniguchi-Ikeda, Mariko;
Mizuno, Seiji;
Muramatsu, Yukako;
Tsuge, Ikuya;
Ohashi, Hirofumi;
Saito, Nakamichi;
Hasegawa, Yuiko;
Ochi, Nobuhiko;
Yamaguchi, Masatoshi;
Murotsuki, Jun;
Kurahashi, Hiroki

Publication type:

Article

Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1461, doi. 10.1007/s00439-023-02590-w

By:

Willett, Julian Daniel Sunday;
Lu, Tianyuan;
Nakanishi, Tomoko;
Yoshiji, Satoshi;
Butler-Laporte, Guillaume;
Zhou, Sirui;
Farjoun, Yossi;
Richards, J. Brent

Publication type:

Article

CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.

Published in:

Human Genetics, 2023, v. 142, n. 10, p. 1499, doi. 10.1007/s00439-023-02581-x

By:

Roux, Isabelle;
Fenollar-Ferrer, Cristina;
Lee, Hyun Jae;
Chattaraj, Parna;
Lopez, Ivan A.;
Han, Kyungreem;
Honda, Keiji;
Brewer, Carmen C.;
Butman, John A.;
Morell, Robert J.;
Martin, Donna M.;
Griffith, Andrew J.

Publication type:

Article