Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: JAG1: 2698C>T; Arg900Ter
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
Investigative Ophthalmology & Visual Science
da Palma, Mariana Matioli MM; Igelman, Austin D AD; Ku, Cristy C; Burr, Amanda A; You, Jia Yue JY; Place, Emily M EM; Wang, Nan-Kai NK; Oh, Jin Kyun JK; Branham, Kari E KE; Zhang, Xinxin X; Ahn, Jeeyun J; Gorin, Michael B MB; Lam, Byron L BL; Ronquillo, Cecinio C CC; Bernstein, Paul S PS; Nagiel, Aaron A; Huckfeldt, Rachel R; Cabrera, Michelle T MT; Kelly, John P JP; Bakall, Benjamin B; Iannaccone, Alessandro A; Hufnagel, Robert B RB; Zein, Wadih M WM; Koenekoop, Robert K RK; Birch, David G DG; Yang, Paul P; Fahim, Abigail T AT; Pennesi, Mark E ME
Publication Date: 2021-06-01
Variant appearance in text: JAG1: 2698C>T; Arg900*
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Human Mutation
Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
Hypertension (Dallas, Tex. : 1979)
Warejko, Jillian K JK; Schueler, Markus M; Vivante, Asaf A; Tan, Weizhen W; Daga, Ankana A; Lawson, Jennifer A JA; Braun, Daniela A DA; Shril, Shirlee S; Amann, Kassaundra K; Somers, Michael J G MJG; Rodig, Nancy M NM; Baum, Michelle A MA; Daouk, Ghaleb G; Traum, Avram Z AZ; Kim, Heung Bae HB; Vakili, Khashayar K; Porras, Diego D; Lock, James J; Rivkin, Michael J MJ; Chaudry, Gulraiz G; Smoot, Leslie B LB; Singh, Michael N MN; Smith, Edward R ER; Mane, Shrikant M SM; Lifton, Richard P RP; Stein, Deborah R DR; Ferguson, Michael A MA; Hildebrandt, Friedhelm F
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.