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Chelsea Lowther · SciRah

Researcher profile · Semantic Scholar

Chelsea Lowther

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Chelsea Lowther — researcher profile on SciRah

h-index: 18
Works: 31
Citations: 2,497

Most-cited papers

A structural variation reference for medical and population genetics
Ryan L. Collins, H. Brand, K. Karczewski, Xue-Fang Zhao +180 more
2020Nature932 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
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
G. Costain, A. C. Lionel, D. Merico, P. Forsythe +10 more
2013Human Molecular Genetics137 citations Open access
Semantic Scholar
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
Chelsea Lowther, G. Costain, D. Stavropoulos, R. Melvin +8 more
2014Genetics in Medicine133 citations Open access
Semantic Scholar
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Xue-Fang Zhao, Ryan L. Collins, Wan-Ping Lee, Alexandra M. Weber +19 more
2021American Journal of Human Genetics115 citations Open access
Semantic Scholar
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
I. Cleynen, W. Engchuan, M. Hestand, Tracy Heung +120 more
2020Molecular Psychiatry113 citations Open access
Semantic Scholar
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther, M. Speevak, Christine M. Armour, E. Goh +28 more
2016Genetics in Medicine94 citations Open access
Semantic Scholar
Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome
A. Bassett, Chelsea Lowther, D. Merico, G. Costain +46 more
2017American Journal of Psychiatry92 citations Open access
Semantic Scholar
An open resource of structural variation for medical and population genetics
Ryan L. Collins, H. Brand, K. Karczewski, Xue-Fang Zhao +41 more
201976 citations Open access
Semantic Scholar
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
M. Reuter, R. Jobling, R. Chaturvedi, R. Manshaei +17 more
2018Genetics in Medicine74 citations Open access
Semantic Scholar
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
A. Isles, A. Ingason, Chelsea Lowther, J. Walters +36 more
2016PLoS Genetics63 citations Open access
Semantic Scholar
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Chelsea Lowther, E. Valkanas, J. Giordano, Harold Wang +41 more
2023American Journal of Human Genetics54 citations Open access
Semantic Scholar
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
G. Raca, C. Astbury, Andrea Behlmann, M. D. De Castro +7 more
2022Genetics in Medicine45 citations Open access
Semantic Scholar
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Christina Halgren, N. Nielsen, Lusine Nazaryan-Petersen, Asli Silahtaroglu +21 more
2018American Journal of Human Genetics45 citations Open access
Semantic Scholar
Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?
Chelsea Lowther, G. Costain, D. Baribeau, A. Bassett
2017Current Psychiatry Reports38 citations
Semantic Scholar
Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population
B. Hashemi, A. Bassett, D. Chitayat, K. Chong +12 more
2015American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
Chelsea Lowther, D. Merico, G. Costain, Jack Waserman +9 more
2017Genome Medicine32 citations Open access
Semantic Scholar
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Kiana Mohajeri, Rachita Yadav, E. D'Haene, Philip M. Boone +19 more
2022bioRxiv29 citations Open access
Semantic Scholar
Author Correction: A structural variation reference for medical and population genetics
Ryan L. Collins, H. Brand, K. Karczewski, Xue-Fang Zhao +44 more
2021Nature13 citations Open access
Semantic Scholar
Adult expression of a 3q13.31 microdeletion
Chelsea Lowther, G. Costain, R. Melvin, D. Stavropoulos +4 more
2014Molecular Cytogenetics13 citations Open access
Semantic Scholar
Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
Chelsea Lowther, E. Valkanas, J. Giordano, Harold Wang +41 more
2020bioRxiv12 citations Open access
Semantic Scholar
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
Christopher C. Y. Mak, P. Chow, Anthony P. Y. Liu, K. Chan +10 more
2016npj Genomic Medicine10 citations Open access
Semantic Scholar
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Chelsea Lowther, M. Mehrjouy, Ryan L. Collins, M. Bak +151 more
2022medRxiv8 citations Open access
Semantic Scholar
Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly
Xue-Fang Zhao, Ryan L. Collins, Wan-Ping Lee, Alexandra M. Weber +19 more
2020bioRxiv8 citations Open access
Semantic Scholar
Reproductive Genetic Testing and Human Genetic Variation in the Era of Genomic Medicine
Chelsea Lowther, G. Costain, A. Bassett
2015American Journal of Bioethics4 citations Open access
Semantic Scholar
Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders
Chelsea Lowther, E. Valkanas, J. Giordano, Harold Wang +32 more
20202 citations
Semantic Scholar
Adult expression of a 3q13.31 microdeletion
Chelsea Lowther, G. Costain, R. Melvin, D. Stavropoulos +4 more
2014Molecular Cytogenetics1 citations Open access
Semantic Scholar
Rare copy number variations associated with schizophrenia and intellectual disability
Chelsea Lowther
20180 citations
Semantic Scholar
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
Chelsea Lowther, D. Merico, G. Costain, Jack Waserman +9 more
2017Genome Medicine0 citations Open access
Semantic Scholar
Title De novo large rare copy-number variations contribute toconotruncal heart disease in Chinese patients
Christopher C. Y. Mak, P. Chow, Anthony P. Y. Liu, K. Chan +10 more
20160 citations
Semantic Scholar
MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations
Chelsea Lowther, M. Speevak, Christine M. Armour, E. Goh +20 more
20150 citations
Semantic Scholar

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