Support us in the fight for the freedom of knowledge
Sign the petition
Hide info
books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 106; Issue 5
Main
The American Journal of Human Genetics
Volume 106; Issue 5
The American Journal of Human Genetics
Volume 106; Issue 5
1
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
Muir, Alison M.
,
Cohen, Jennifer L.
,
Sheppard, Sarah E.
,
Guttipatti, Pavithran
,
Lo, Tsz Y.
,
Weed, Natalie
,
Doherty, Dan
,
DeMarzo, Danielle
,
Fagerberg, Christina R.
,
Kjærsgaard, Lars
,
Larsen, Martin J
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 1.17 MB
Your tags:
2020
2
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases
DeBoever, Christopher
,
Tanigawa, Yosuke
,
Aguirre, Matthew
,
McInnes, Greg
,
Lavertu, Adam
,
Rivas, Manuel A.
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 2.09 MB
Your tags:
2020
3
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
Choufani, Sanaa
,
Gibson, William T.
,
Turinsky, Andrei L.
,
Chung, Brian H.Y.
,
Wang, Tianren
,
Garg, Kopal
,
Vitriolo, Alessandro
,
Cohen, Ana S.A.
,
Cyrus, Sharri
,
Goodman, Sarah
,
Chater-Diehl, Eric
,
Brzez
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 2.55 MB
Your tags:
2020
4
Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD
Chasman, Daniel I.
,
Giulianini, Franco
,
Demler, Olga V.
,
Udler, Miriam S.
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 976 KB
Your tags:
2020
5
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases
Cochran, J. Nicholas
,
Geier, Ethan G.
,
Bonham, Luke W.
,
Newberry, J. Scott
,
Amaral, Michelle D.
,
Thompson, Michelle L.
,
Lasseigne, Brittany N.
,
Karydas, Anna M.
,
Roberson, Erik D.
,
Cooper, Gregory M.
,
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 558 KB
Your tags:
2020
6
Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data Sets
Yang, Sheng
,
Zhou, Xiang
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 1.81 MB
Your tags:
2020
7
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy
Chung, Hyung-lok
,
Mao, Xiao
,
Wang, Hua
,
Park, Ye-Jin
,
Marcogliese, Paul C.
,
Rosenfeld, Jill A.
,
Burrage, Lindsay C.
,
Liu, Pengfei
,
Murdock, David R.
,
Yamamoto, Shinya
,
Wangler, Michael F.
,
Chao, Hsiao
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 2.82 MB
Your tags:
2020
8
Insufficient Evidence for âAutism-Specificâ Genes
Myers, Scott M.
,
Challman, Thomas D.
,
Bernier, Raphael
,
Bourgeron, Thomas
,
Chung, Wendy K.
,
Constantino, John N.
,
Eichler, Evan E.
,
Jacquemont, Sebastien
,
Miller, David T.
,
Mitchell, Kevin J.
,
Zoghbi,
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 509 KB
Your tags:
2020
9
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups
Dikilitas, Ozan
,
Schaid, Daniel J.
,
Kosel, Matthew L.
,
Carroll, Robert J.
,
Chute, Christopher G.
,
Denny, Joshua A.
,
Fedotov, Alex
,
Feng, QiPing
,
Hakonarson, Hakon
,
Jarvik, Gail P.
,
Lee, Ming Ta Michae
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 1.01 MB
Your tags:
2020
10
Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning
Vitsios, Dimitrios
,
Petrovski, Slavé
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 2.17 MB
Your tags:
2020
11
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
Badrock, Andrew P.
,
Uggenti, Carolina
,
Wacheul, Ludivine
,
Crilly, Siobhan
,
Jenkinson, Emma M.
,
Rice, Gillian I.
,
Kasher, Paul R.
,
Lafontaine, Denis L.J.
,
Crow, Yanick J.
,
OâKeefe, Raymond T.
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 3.48 MB
Your tags:
2020
12
This Month in The Journal
Ratzel, Sarah
,
Cullinan, Sara B.
Journal:
The American Journal of Human Genetics
Year:
2020
File:
PDF, 43 KB
Your tags:
2020
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×
Support us in the fight for the freedom of knowledge
Sign the petition
Hide info
