De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons
Tomoki T. Nomakuchi, Alyssa L. Rippert, Sabrina A. Santos De Leon…·Elizabeth J. K. Bhoj
Author
Children's Hospital of PhiladelphiaORCID 0000-0002-2265-6727Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
10 papers
Recent·Most cited
Tomoki T. Nomakuchi, Alyssa L. Rippert, Sabrina A. Santos De Leon…·Elizabeth J. K. Bhoj
Lot Snijders Blok, Jolijn J. A. Verseput, Dmitrijs Rots…·Tjitske Kleefstra
The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.
Rose Guo, Frank D. Mentch, Dong Li…·Elizabeth J. K. Bhoj
The paper evaluates Mendelian causes of pediatric neurodegenerative disorders in a cohort of 69 patients, finding 42 genetic diagnoses and 32 unique disorders.
Anna R. Docherty, Niamh Mullins, Allison E. Ashley‐Koch…·Laura M. Thornton
This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.
Niamh Mullins, Jooeun Kang, Adrián I. Campos…·DAVID L. BRAFF
This study identifies genetic loci associated with suicide attempts and shows shared genetic architecture with psychiatric disorders and non-psychiatric risk factors.
Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson
The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.
Naihua Natalie Gong, Leela Chakravarti Dilley, Charlette E. Williams…·Matthew S. Kayser
The paper identifies ISWI as a chromatin remodeler required for adult sleep in Drosophila, with distinct developmental roles in sleep and other behaviors.
Reham Alharatani, Athina Ververi, Ana Beleza‐Meireles…·Karen J. Liu
The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.
Laura M. Huckins, Amanda L. Dobbyn, Whitney C. McFadden…·Mario Maj
This paper uses transcriptomic imputation to identify gene-tissue associations linked to Anorexia Nervosa risk, finding significant links in both brain and metabolic tissues.