Publications by authors named "Jennifer E Neil"

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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, Mariasavina Severino, Raffaella De Pace, Jennifer E Neil

Brain· October 2025

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ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Jennifer E Neil

Brain· September 2025

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Spatial transcriptomics reveals human cortical layer and area specification.
Xuyu Qian, Kyle Coleman, Shunzhou Jiang, Andrea J Kriz, Jack H Marciano, Jennifer E Neil

Nature· August 2025

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Neurodevelopmental disorders associated variants in disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Jennifer E Neil

medRxiv· November 2024

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Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification.
Xuyu Qian, Kyle Coleman, Shunzhou Jiang, Andrea J Kriz, Jack H Marciano, Jennifer E Neil

bioRxiv· June 2024

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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Jennifer E Neil

Am J Hum Genet· May 2024

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Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zinan Zhou, Junho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Jennifer E Neil

bioRxiv· December 2023

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Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Jennifer E Neil

medRxiv· October 2023

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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Shyam K Akula, Allen Y Chen, Jennifer E Neil, Diane D Shao, Alisa Mo

JAMA Neurol· September 2023

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Jennifer E Neil

Am J Hum Genet· May 2023

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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, Daniel C Koboldt, Isabel Marques, Jennifer E Neil

Am J Med Genet A· January 2023

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TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Shyam K Akula, Jack H Marciano, Youngshin Lim, David Exposito-Alonso, Norma K Hylton, Jennifer E Neil

Proc Natl Acad Sci U S A· January 2023

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ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Ajay X Thomas, Nichole Link, Laurie A Robak, Gail Demmler-Harrison, Emily C Pao, Jennifer E Neil

Ann Clin Transl Neurol· August 2022

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Somatic genomic changes in single Alzheimer's disease neurons.
Michael B Miller, August Yue Huang, Junho Kim, Zinan Zhou, Samantha L Kirkham, Jennifer E Neil

Nature· April 2022

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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Cai Qi, Irena Feng, Ana Rita Costa, Rita Pinto-Costa, Jennifer E Neil

Genet Med· February 2022

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Natja Haag, Ene-Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Jennifer E Neil

Eur J Hum Genet· November 2021

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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Diane D Shao, Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, Jennifer E Neil

Genet Med· June 2021

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Early role for a Na,K-ATPase () in brain development.
Richard S Smith, Marta Florio, Shyam K Akula, Jennifer E Neil, Yidi Wang

Proc Natl Acad Sci U S A· June 2021

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