Joshua E. Motelow

Columbia University — United States

Medicine · Health Sciences

22h-index2.4kcitations43works2.52yr avg
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Research Topics

Epilepsy research and treatment(9), Functional Brain Connectivity Studies(9), Genomics and Rare Diseases(9), Neuroscience and Neuropharmacology Research(7), Advanced MRI Techniques and Applications(7)

Publications43 total

Interstitial Cystitis: a phenotype and rare variant exome sequencing study
2025Open Access
Genetic disorders and their association with morbidity and mortality in early preterm small for gestational age infants
American Journal of Obstetrics and Gynecology·2024· 6 cited
Engraftment of wild-type alveolar type II epithelial cells in surfactant protein C deficient mice
2024· 2 citedOpen Access
Assisting the analysis of insertions and deletions using regional allele frequencies
Functional & Integrative Genomics·2024· 2 citedOpen Access
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS
Research Square (Research Square)·2023Open Access
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies <i>ANTXR2</i> as a candidate in PLS
2023· 3 citedOpen Access
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Nature Communications·2023· 53 citedOpen Access
The Contribution of Commonly Diagnosed Genetic Disorders to Small for Gestational Age Birth and Subsequent Morbidity and Mortality in Preterm Infants
2023Open Access
Investigation into the genetics of fetal congenital lymphatic anomalies
Prenatal Diagnosis·2023· 27 citedOpen Access
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing
Schizophrenia Research·2023· 20 cited
Risk Variants in the Exomes of Children With Critical Illness
JAMA Network Open·2022· 3 citedOpen Access
Children with Critical Illness Carry Risk Variants Despite Non-Diagnostic Whole Exome Sequencing
2022Open Access
Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study
Epilepsia·2022· 13 citedOpen Access
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Human Molecular Genetics·2021· 19 citedOpen Access
High-impact rare genetic variants in severe schizophrenia
Proceedings of the National Academy of Sciences·2021· 49 citedOpen Access
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
The American Journal of Human Genetics·2021· 4 citedOpen Access
Improving Screening for Social Determinants of Health in a Pediatric Resident Clinic: A Quality Improvement Initiative
Pediatric Quality and Safety·2021· 18 citedOpen Access
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
The American Journal of Human Genetics·2021· 58 citedOpen Access
COVID-19 Mortality in a Pediatric Patient with Hemoglobin SC Disease and Alpha-Thalassemia Trait
Case Reports in Critical Care·2021· 3 citedOpen Access
Whole exome sequencing across clinical specialties within a medical center
Molecular Genetics and Metabolism·2021
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Frequent Co-authors

Hal Blumenfeld(21), Michael Purcaro(7), Fahmeed Hyder(6), Qiong Zhan(6), Gundula Povysil(6), Anna Alkelai(6), David B. Goldstein(6), Basavaraju G. Sanganahalli(5), Nathan Danielson(5), Asht M. Mishra(5), Ryan S. Dhindsa(5), Zhong Ren(5), Miro Enev(4), Ulrich Schridde(4), Xiaoxiao Bai(4), Abhijeet Gummadavelli(4), Matthew N. DeSalvo(4), Kate E. Stanley(4), Erin L. Heinzen(4), Ingo Helbig(4)