Publications:

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: TG: 2125G>C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Mannose 6-phosphate receptor homology (MRH) domain-containing lectins in the secretory pathway.

Biochimica Et Biophysica Acta

Castonguay, Alicia C AC; Olson, Linda J LJ; Dahms, Nancy M NM

Publication Date: 2011-09

Variant appearance in text: TGN: E709Q

PubMed Link: 21723917

Variant Present in the following documents:

• Main text

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Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

Bmc Medical Genetics

Myhre, Ronny R; Klungland, Helge H; Farrer, Matthew J MJ; Aasly, Jan O JO

Publication Date: 2008-03-21

Variant appearance in text: TG: Glu709Gln

PubMed Link: 18366718

Variant Present in the following documents:

• 1471-2350-9-19.pdf

View BVdb publication page