Publications by authors named "Jennifer Dempsey"

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Behavioral Correlates of Caregiver-Reported Oral Health of Individuals With Joubert Syndrome: A Cross-Sectional Observational Study.
Sai Win Kyaw Htet Aung, Joshua Orack, Dan Doherty, Travis Nelson, Jennifer C Dempsey

Spec Care Dentist· June 2025

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Jennifer C Dempsey

EBioMedicine· May 2025

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Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Jia-Der Ju-Wang, Jennifer C Dempsey, Cristian Zhang, Daniel Doherty, Manisha Witmans

Ther Adv Respir Dis· January 2025

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Quantification and prediction of human fetal (-)-Δ-tetrahydrocannabinol/(±)-11-OH-Δ-tetrahydrocannabinol exposure during pregnancy to inform fetal cannabis toxicity.
Aditya R Kumar, Lyndsey S Benson, Erica M Wymore, Jocelyn E Phipers, Jennifer C Dempsey

Nat Commun· January 2025

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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Jennifer C Dempsey

J Med Genet· September 2023

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Donor perspectives on informed consent and use of biospecimens for brain organoid research.
Katherine E MacDuffie, Jason L Stein, Dan Doherty, Suman Jayadev, Jessica B Girault, Jennifer C Dempsey

Stem Cell Reports· July 2023

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Jennifer C Dempsey

Genet Med· February 2023

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haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni

J Med Genet· September 2022

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Jennifer C Dempsey

Genet Med· August 2022

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Rescuing human fetal tissue research in the United States: A call for additional regulatory reform.
Katherine E MacDuffie, Insoo Hyun, Michaela M Krogen, Jennifer C Dempsey, Charles E Murry

Stem Cell Reports· December 2021

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A Case Series of Familial Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, Kareesma Parbhoo, Bregje W van Bon, Jennifer C Dempsey

Genes (Basel)· August 2021

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Per- and Polyfluoroalkyl Substances (PFAS) in Breast Milk: Concerning Trends for Current-Use PFAS.
Guomao Zheng, Erika Schreder, Jennifer C Dempsey, Nancy Uding, Valerie Chu

Environ Sci Technol· June 2021

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Julie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Jennifer C Dempsey

HGG Adv· January 2021

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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Brooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, Stef Jf Letteboer, Arianna Gomez, Jennifer C Dempsey

J Clin Invest· August 2020

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Healthcare recommendations for Joubert syndrome.
Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, Maida L Chen, Stefano D'Arrigo

Am J Med Genet A· January 2020

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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P Adam, Michele Mehaffey, Jennifer C Dempsey

Am J Hum Genet· January 2019

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Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Kimberly A Aldinger, Jennifer C Dempsey, Hannah M Tully, Megan E Grout, Michele G Mehaffey

Am J Med Genet C Semin Med Genet· December 2018

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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, Christine R Isabella, Hannah M Tully

Genet Med· February 2018

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Jennifer C Dempsey

Am J Hum Genet· July 2017

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Mortality in Joubert syndrome.
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, Ian A Glass, Hannah M Tully

Am J Med Genet A· May 2017

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Abnormal glycosylation in Joubert syndrome type 10.
Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Jennifer C Dempsey

Cilia· March 2017

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Post-Discharge Survival Outcomes of Patients with Advanced Cancer from the University of Texas MD Anderson Cancer Center Investigational Cancer Therapeutics (Phase I Trials) Inpatient Unit.
Holly Kinahan, Abhishek Maiti, Kenneth Hess, Jennifer Dempsey, Laura Beatty

Oncology· January 2017

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Jessica X Chong, Viviana Caputo, Ian G Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C Dempsey

Am J Hum Genet· April 2016

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MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels

J Med Genet· January 2016

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