Publications by authors named "Dan Doherty"

Claim this Profile
E
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis.
Joon-Ho Yu, Katherine E MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Dan Doherty

HGG Adv· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Dan Doherty

Am J Hum Genet· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortex.
Yu Gao, Qiping Dong, Kalpana Hanthanan Arachchilage, Ryan D Risgaard, Moosa Syed, Dan Doherty

Neuron· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Dan Doherty

Ther Adv Rare Dis· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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, Dan Doherty

EBioMedicine· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Early Intervention services in the era of genomic medicine: setting a research agenda.
Katherine E MacDuffie, Betty Cohn, Paul Appelbaum, Kyle B Brothers, Dan Doherty

Pediatr Res· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neuropsychiatric Symptoms in Rhombencephalosynapsis: A Clinical Report.
Dennis J L G Schutter, Dan Doherty, James O Phillips, Avery H Weiss, Roderick P P W M Maas

Cerebellum· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multimodal analyses reveal genes driving electrophysiological maturation of neurons in the primate prefrontal cortex.
Yu Gao, Qiping Dong, Kalpana Hanthanan Arachchilage, Ryan Risgaard, Jie Sheng, Dan Doherty

bioRxiv· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development.
Minjie Shen, Carissa L Sirois, Yu Guo, Meng Li, Qiping Dong, Dan Doherty

Neuron· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Single-cell census of human tooth development enables generation of human enamel.
Ammar Alghadeer, Sesha Hanson-Drury, Anjali P Patni, Devon D Ehnes, Yan Ting Zhao, Dan Doherty

Dev Cell· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Dan Doherty

J Med Genet· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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

Stem Cell Reports· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Central sleep apnea in patients with pontine tegmental cap dysplasia treated with supplemental oxygen: a case report.
Jia-Der Ju Wang, Dan Doherty, Jan-Marino Ramirez, Maida Chen

J Clin Sleep Med· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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, Dan Doherty

Genet Med· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines.
Arianna Ericka Gómez, Angela K Christman, Julie Craft Van De Weghe, Malaney Finn, Dan Doherty

PLoS One· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
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, Dan Doherty

J Med Genet· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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, Dan Doherty

Genet Med· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Julie C Van De Weghe, Arianna Gomez, Dan Doherty

Annu Rev Genomics Hum Genet· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Dan Doherty

Am J Med Genet A· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mortality in pediatric hydrocephalus.
Hannah M Tully, Dan Doherty, Mark Wainwright

Dev Med Child Neurol· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Katherine A Inskeep, Yuri A Zarate, Danielle Monteil, Jurgen Spranger, Dan Doherty

Am J Med Genet A· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
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, Dan Doherty

Stem Cell Reports· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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, Dan Doherty

Genes (Basel)· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis