List of works - Jeremy McRae

A Mendelian trait for olfactory sensitivity affects odor experience and food selection

scientific article

A preliminary investigation into a genetic basis for cis-3-hexen-1-ol odour perception: A genome-wide association approach

scholarly article

Author Correction: Predicting the clinical impact of human mutation with deep neural networks

scientific article published on 01 February 2019

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

scientific article published on 19 July 2016

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

scientific article published on 17 August 2016

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

scientific article published in Nature

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

scholarly article

De novo mutations in regulatory elements cause neurodevelopmental disorders

scholarly article

De novo mutations in regulatory elements in neurodevelopmental disorders.

scientific article

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

scientific article published on 5 October 2015

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Evidence for 28 genetic disorders discovered by combining healthcare and research data

scientific article published on 14 October 2020

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

scientific article published on 21 June 2019

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

scientific article published on 10 October 2019

Genetic and chemotherapeutic influences on germline hypermutation

scientific article published on 11 May 2022

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

scientific article

Genetic variation in the odorant receptor OR2J3 is associated with the ability to detect the "grassy" smelling odor, cis-3-hexen-1-ol

scientific article

Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome

scholarly article

Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome

scholarly article published in September 2013

Identification of regions associated with variation in sensitivity to food-related odors in the human genome

scientific article published in August 2013

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

scientific article published on 11 January 2018

Pathogenicity and selective constraint on variation near splice sites

scholarly article published 30 January 2018

Pathogenicity and selective constraint on variation near splice sites

scientific article published on 26 December 2018

Predicting Splicing from Primary Sequence with Deep Learning

scientific article published on 17 January 2019

Predicting the clinical impact of human mutation with deep neural networks

scientific article published on 23 July 2018

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Quantifying the contribution of recessive coding variation to developmental disorders

scholarly article

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

scientific article

List of works by Jeremy McRae

A Mendelian trait for olfactory sensitivity affects odor experience and food selection

A preliminary investigation into a genetic basis for cis-3-hexen-1-ol odour perception: A genome-wide association approach

Author Correction: Predicting the clinical impact of human mutation with deep neural networks

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

De novo mutations in regulatory elements cause neurodevelopmental disorders

De novo mutations in regulatory elements in neurodevelopmental disorders.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Genetic and chemotherapeutic influences on germline hypermutation

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Genetic variation in the odorant receptor OR2J3 is associated with the ability to detect the "grassy" smelling odor, cis-3-hexen-1-ol

Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome

Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome

Identification of regions associated with variation in sensitivity to food-related odors in the human genome

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Pathogenicity and selective constraint on variation near splice sites

Pathogenicity and selective constraint on variation near splice sites

Predicting Splicing from Primary Sequence with Deep Learning

Predicting the clinical impact of human mutation with deep neural networks

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Quantifying the contribution of recessive coding variation to developmental disorders

Quantifying the contribution of recessive coding variation to developmental disorders

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

The landscape of tolerated genetic variation in humans and primates