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B. Neale · SciRah

Researcher profile · Semantic Scholar

B. Neale

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B. Neale — researcher profile on SciRah

h-index: 128
Works: 460
Citations: 147K

Most-cited papers

The mutational constraint spectrum quantified from variation in 141,456 humans
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +62 more
2020Nature8,785 citations Open access
Semantic Scholar
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
V. Trubetskoy, A. Pardiñas, Ting Qi, G. Panagiotaropoulou +430 more
2022Nature2,385 citations Open access
Semantic Scholar
Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology
N. Mullins, A. Forstner, K. O’Connell, B. Coombes +313 more
2021Nature Genetics1,030 citations Open access
Semantic Scholar
Rare coding variants in 10 genes confer substantial risk for schizophrenia
T. Singh, T. Poterba, D. Curtis, H. Akil +107 more
2022Nature687 citations Open access
Semantic Scholar
Genome-wide analyses of attention deficit hyperactivity disorder identify 27 risk loci, refine the genetic architecture, and implicate several cognitive domains
D. Demontis, G. Walters, G. Athanasiadis, R. Walters +43 more
2022Nature Genetics632 citations Open access
Semantic Scholar
A cross-disorder dosage sensitivity map of the human genome
Ryan L. Collins, J. Glessner, E. Porcu, Theodore J. Morley +30 more
2021medRxiv327 citations Open access
Semantic Scholar
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
K. Karczewski, M. Solomonson, Katherine R. Chao, J. Goodrich +41 more
2022Cell Genomics266 citations Open access
Semantic Scholar
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
Si-Wei Chen, L. Francioli, J. Goodrich, Ryan L. Collins +40 more
2022bioRxiv261 citations Open access
Semantic Scholar
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale
Xi-Hao Li, Zi-Lin Li, Hufeng Zhou, Sheila M. Gaynor +61 more
2020Nature Genetics255 citations Open access
Semantic Scholar
Genetic analyses identify widespread sex-differential participation bias
N. Pirastu, M. Cordioli, P. Nandakumar, Gianmarco Mignogna +25 more
2020Nature Genetics223 citations Open access
Semantic Scholar
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
Getting genetic ancestry right for science and society
A. C. Lewis, Santiago J. Molina, P. Appelbaum, Bege Dauda +16 more
2021Science185 citations Open access
Semantic Scholar
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
S. Zekavat, Shu-Hong Lin, A. Bick, Ao-Xing Liu +33 more
2021Nature Medicine166 citations Open access
Semantic Scholar
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
D. Palmer, D. Howrigan, Sinéad B. Chapman, R. Adolfsson +43 more
2022Nature Genetics162 citations Open access
Semantic Scholar
Polygenic architecture of rare coding variation across 394,783 exomes
D. Weiner, Ajay Nadig, K. A. Jagadeesh, K. Dey +4 more
2023Nature152 citations Open access
Semantic Scholar
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
Hufeng Zhou, Theodore Arapoglou, Xi-Hao Li, Zi-Lin Li +20 more
2022bioRxiv143 citations Open access
Semantic Scholar
Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities
Alicia R. Martin, M. Kanai, Y. Kamatani, Y. Okada +2 more
2021Nature Genetics142 citations Open access
Semantic Scholar
Tractor uses local ancestry to enable inclusion of admixed individuals into GWAS and boost power
E. Atkinson, A. Maihofer, M. Kanai, Alicia R. Martin +10 more
2021Nature Genetics140 citations Open access
Semantic Scholar
A harmonized public resource of deeply sequenced diverse human genomes
Zan Koenig, M. Yohannes, Lethukuthula L Nkambule, Xue-Fang Zhao +17 more
2023bioRxiv135 citations Open access
Semantic Scholar
SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests
Wei Zhou, Wenjian Bi, Zhangchen Zhao, K. Dey +5 more
2022Nature Genetics129 citations Open access
Semantic Scholar
Problems with Using Polygenic Scores to Select Embryos
P. Turley, M. Meyer, Nancy Wang, D. Cesarini +9 more
2021New England Journal of Medicine118 citations Open access
Semantic Scholar
Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia
T. Singh, T. Poterba, David Curtis, H. Akil +106 more
2020medRxiv111 citations Open access
Semantic Scholar
Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics
Jonas Bovijn, Kristi Krebs, Chia-Yen Chen, R. Boxall +16 more
2020Science Translational Medicine109 citations Open access
Semantic Scholar
Inherited myeloproliferative neoplasm risk impacts hematopoietic stem cells
Erik L. Bao, Satish K. Nandakumar, Xiaotian Liao, A. Bick +31 more
2020Nature108 citations Open access
Semantic Scholar
Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity
K. Tsuo, Wei Zhou, Ying Wang, M. Kanai +9 more
2021medRxiv107 citations Open access
Semantic Scholar
The genetic architecture of sporadic and multiple consecutive miscarriage
T. Laisk, A. Soares, T. Ferreira, J. Painter +51 more
2020Nature Communications98 citations Open access
Semantic Scholar
Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases
Huiling Zhao, Humaira Rasheed, T. Nøst, Yoonsu Cho +10 more
2022medRxiv85 citations Open access
Semantic Scholar
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +62 more
2021Nature85 citations Open access
Semantic Scholar
Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum
Zhiyu Yang, Hanrui Wu, P. Lee, Fotis Tsetsos +21 more
2021Biological Psychiatry84 citations Open access
Semantic Scholar
Genome-wide risk prediction of common diseases across ancestries in one million people
N. Mars, S. Kerminen, Y. Feng, M. Kanai +16 more
2022Cell Genomics76 citations Open access
Semantic Scholar
Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention deficit hyperactivity disorder
V. Rajagopal, Jinjie Duan, L. Vilar-Ribó, J. Grove +18 more
2021Nature Genetics73 citations Open access
Semantic Scholar
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
Dong-Jing Liu, Dara Meyer, B. Fennessy, C. Feng +157 more
2023Nature Genetics70 citations Open access
Semantic Scholar
Improving fine-mapping by modeling infinitesimal effects
Ran Cui, Roy A. Elzur, M. Kanai, J. Ulirsch +5 more
2023bioRxiv67 citations Open access
Semantic Scholar
Multi-PGS enhances polygenic prediction by combining 937 polygenic scores
C. Albiñana, Zhihong Zhu, A. Schork, A. Ingason +15 more
2023Nature Communications66 citations Open access
Semantic Scholar
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains
D. Demontis, G. Walters, G. Athanasiadis, R. Walters +45 more
2023Nature Genetics65 citations Open access
Semantic Scholar
Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility
M. Meyer, P. Appelbaum, Daniel J. Benjamin, Shawneequa Callier +15 more
2023The Hastings center report64 citations Open access
Semantic Scholar
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups
M. Mattheisen, J. Grove, T. Als, Joanna Martin +30 more
2022Nature Genetics64 citations Open access
Semantic Scholar
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Sanna Gudmundsson, K. Karczewski, L. Francioli, Grace Tiao +63 more
2021Nature56 citations Open access
Semantic Scholar
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia
R. Nehme, O. Pietiläinen, M. Artomov, M. Tegtmeyer +41 more
2021Nature Communications54 citations Open access
Semantic Scholar
Analysis of genetic dominance in the UK Biobank
D. Palmer, Wei Zhou, L. Abbott, E. Wigdor +8 more
2021bioRxiv54 citations Open access
Semantic Scholar
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Joshua E. Motelow, G. Povysil, R. Dhindsa, Kate E. Stanley +251 more
2021American Journal of Human Genetics53 citations Open access
Semantic Scholar
Shared Genetic Risk between Eating Disorder and Substance Use-Related Phenotypes: Evidence from Genome-Wide Association Studies
Melissa A. Munn-Chernoff, E. Johnson, Yi-Ling Chou, J. Coleman +350 more
2020Addiction Biology50 citations Open access
Semantic Scholar
Incorporating family history of disease improves polygenic risk scores in diverse populations
M. Hujoel, Po-ru Loh, B. Neale, Alkes L. Price
2021bioRxiv49 citations Open access
Semantic Scholar
Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder
D. Demontis, R. Walters, V. Rajagopal, I. Waldman +16 more
2021Nature Communications46 citations Open access
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2023medRxiv44 citations Open access
Semantic Scholar
Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks
Rounak Dey, Wei Zhou, T. Kiiskinen, A. Havulinna +9 more
2022Nature Communications42 citations Open access
Semantic Scholar
Genome-wide association study of pediatric obsessive-compulsive traits: shared genetic risk between traits and disorder
C. Burton, M. Lemire, Bowei Xiao, E. Corfield +99 more
2021Translational Psychiatry42 citations Open access
Semantic Scholar
Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies
Pouria Salehi Nowbandegani, A. Wohns, J. L. Ballard, E. Lander +3 more
2022bioRxiv41 citations Open access
Semantic Scholar
GWAS Significance Thresholds for Deep Phenotyping Studies Can Depend Upon Minor Allele Frequencies and Sample Size
Huma Asif, N. Alliey-Rodriguez, S. Keedy, C. Tamminga +8 more
2020Molecular Psychiatry41 citations Open access
Semantic Scholar
Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights
N. Mullins, A. Forstner, K. O’Connell, B. Coombes +309 more
2020medRxiv38 citations Open access
Semantic Scholar

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