Publications by authors named "Anna Need"

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Childhood-Onset Psychosis: A large UK case series.
Mitra S Sato, Anthony James, Marinos Kyriakopoulos, Anna C Need

Eur Child Adolesc Psychiatry· October 2025

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A Genomics England haplotype reference panel and imputation of UK Biobank.
Sinan Shi, Simone Rubinacci, Sile Hu, Loukas Moutsianas, Alex Stuckey, Anna C Need

Nat Genet· September 2024

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Zerin Hyder, Eduardo Calpena, Yang Pei, Rebecca S Tooze, Helen Brittain, Anna Need

Genet Med· December 2021

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics.
Max Lam, Chia-Yen Chen, Tian Ge, Yan Xia, David W Hill, Anna C Need

Neuropsychopharmacology· September 2021

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar I Da'as, Reza Maroofian, Anna C Need

Brain· March 2021

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Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis.
Mitra S Sato, Marinos Kyriakopoulos, Anthony James, Susanne Marwedel, Clare Borsay, Anna C Need

Psychiatr Genet· June 2020

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Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
Max Lam, W David Hill, Joey W Trampush, Jin Yu, Emma Knowles, Anna C Need

Am J Hum Genet· August 2019

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Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Gail Davies, Max Lam, Sarah E Harris, Joey W Trampush, Michelle Luciano, Anna C Need

Nat Commun· May 2019

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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Vandana Shashi, Kelly Schoch, Rebecca Spillmann, Heidi Cope, Queenie K-G Tan, Anna C Need

Genet Med· January 2019

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Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).
Max Lam, Joey W Trampush, Jin Yu, Emma Knowles, Srdjan Djurovic, Anna C Need

Twin Res Hum Genet· October 2018

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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Anna C Need

Hum Mol Genet· July 2018

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Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
Jeanne E Savage, Philip R Jansen, Sven Stringer, Kyoko Watanabe, Julien Bryois, Anna C Need

Nat Genet· July 2018

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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Gail Davies, Max Lam, Sarah E Harris, Joey W Trampush, Michelle Luciano, Anna C Need

Nat Commun· May 2018

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Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.
Max Lam, Joey W Trampush, Jin Yu, Emma Knowles, Gail Davies, Anna C Need

Cell Rep· November 2017

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The importance of dynamic re-analysis in diagnostic whole exome sequencing.
Anna C Need, Vandana Shashi, Kelly Schoch, Slavé Petrovski, David B Goldstein

J Med Genet· March 2017

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Anna C Need

Am J Hum Genet· January 2017

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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Anna C Need

Am J Hum Genet· October 2016

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Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.
Anna C Need, David B Goldstein

Dialogues Clin Neurosci· September 2016

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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, Anna C Need

Genet Med· October 2015

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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Gregory M Enns, Vandana Shashi, Matthew Bainbridge, Michael J Gambello, Farah R Zahir, Anna C Need

Genet Med· October 2014

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Where now for schizophrenia research?
David J Nutt, Anna C Need

Eur Neuropsychopharmacol· August 2014

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Schizophrenia genetics comes of age.
Anna C Need, David B Goldstein

Neuron· August 2014

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One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.
Xiaolin Zhu, Anna C Need, Slavé Petrovski, David B Goldstein

Nat Neurosci· June 2014

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