scispace - formally typeset
M

Menachem Fromer

Researcher at Icahn School of Medicine at Mount Sinai

Publications -  97
Citations -  41438

Menachem Fromer is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Genome-wide association study & Copy-number variation. The author has an hindex of 45, co-authored 94 publications receiving 33892 citations. Previous affiliations of Menachem Fromer include Harvard University & Hebrew University of Jerusalem.

Papers
More filters
Journal ArticleDOI

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, +106 more
- 18 Aug 2016 - 
TL;DR: The aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC) provides direct evidence for the presence of widespread mutational recurrence.
Journal ArticleDOI

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke, +354 more
- 24 Jul 2014 - 
TL;DR: Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
Journal ArticleDOI

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 - 
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
Journal ArticleDOI

Patterns and rates of exonic de novo mutations in autism spectrum disorders

TL;DR: Results from de novo events and a large parallel case–control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors and support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5- to 20-fold.