Jennifer Bain

Columbia University Irving Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

32h-index4.7kcitations127works5.02yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(30), Autism Spectrum Disorder Research(16), Genomics and Rare Diseases(13), COVID-19 Clinical Research Studies(11), Cerebral Palsy and Movement Disorders(8)

Publications114 total

Early Detection of Cerebral Palsy Using Standardized Screening Assessments in Neonatal Hypoxic Ischemic Encephalopathy: A Pilot Case Series
Journal of Child Neurology·2026
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Journal of Clinical Investigation·2025Open Access
Pediatric Neck Vessel Repair Following Extracorporeal Membrane Oxygenation Decannulation: Assessing Stroke Risk, Long-Term Neurologic Outcomes, and Vessel Patency
ASAIO Journal·2025· 1 cited
Essential Components of Child Neurology Training: Program Director Consensus Recommendations
Annals of the Child Neurology Society·2025· 1 citedOpen Access
RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation
2025Open Access
MTOR Inhibition, a Potential Treatment for Leigh Syndrome? Report of Three Cases. (P10-6.002)
Neurology·2025
Expanding the Phenotypic Spectrum of <scp>HNRNPU</scp>‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review
American Journal of Medical Genetics Part A·2025· 3 citedOpen Access
Clinical Actionability of Genetic Findings in Cerebral Palsy
JAMA Pediatrics·2024· 9 citedOpen Access
Motor phenotypes associated with genetic neurodevelopmental disorders
Annals of Clinical and Translational Neurology·2024· 2 citedOpen Access
Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic
JAMA Network Open·2024· 9 citedOpen Access
Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders
Molecular Psychiatry·2024· 5 citedOpen Access
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in <i>PPP2R5D</i> ‐related neurodevelopmental disorder
Clinical Genetics·2024· 5 citedOpen Access
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder
Nature Medicine·2024· 38 citedOpen Access
Author response for "Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder"
2024
Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment
2024· 6 citedOpen Access
Correction to: A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder
Advances in Neurodevelopmental Disorders·2024Open Access
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
2024· 2 citedOpen Access
Rates of Positive M-CHAT-R Screenings by Pandemic Birth and Prenatal SARS-CoV-2 Exposure
2024· 1 citedOpen Access
Clinical phenotypic spectrum of <scp> <i>CTNNB1</i> </scp> neurodevelopmental disorder
Clinical Genetics·2024· 17 citedOpen Access
Gastrointestinal symptoms have a non-temporal association with regression in a cohort with autism spectrum disorder using the simons simplex collection
Research in autism spectrum disorders·2024
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Frequent Co-authors

Wendy K. Chung(8), Sylvie Goldman(6), Wendy G. Silver(5), Dario R. Alessi(4), Lauren C. Shuffrey(3), Morgan R. Firestein(3), Margaret H. Kyle(3), Judy Austin(3), Yunzhe Hu(3), Maha Hussain(3), Rachel Marsh(3), Rebecca Muhle(3), Anna A. Penn(3), Cynthia Rodríguez(3), Kally C. O’Reilly(3), Melissa S. Stockwell(3), William P. Fifer(3), Catherine Monk(3), Dani Dumitriu(3), Matthew Elliott(3)