Publications:

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Frontiers In Genetics

Chang, Xiao X; Lima, Leandro de Araujo LA; Liu, Yichuan Y; Li, Jin J; Li, Qingqin Q; Sleiman, Patrick M A PMA; Hakonarson, Hakon H

Publication Date: 2018

Variant appearance in text: COL16A1: T832T

PubMed Link: 30323833

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: COL16A1: 2496C>T

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-5.xlsx, sheet 2

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: rs201512515

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

View BVdb publication page