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