Publications by authors named "Jennifer Mulle"

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Copy Number Variants: Deletion and Duplication Syndromes.
Matthew K Harner, Daniela V Bishop, Rebecca M Pollak, Ryan H Purcell, Jennifer G Mulle

Annu Rev Genomics Hum Genet· August 2025

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Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.
Rebecca M Pollak, Michael Mortillo, Melissa M Murphy, Jennifer G Mulle

J Autism Dev Disord· February 2025

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Comparison of autism domains across thirty rare variant genotypes.
Nabila M H Ali, Samuel J R A Chawner, Leila Kushan-Wells, Carrie E Bearden, Jennifer Gladys Mulle

EBioMedicine· February 2025

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Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.
Esra Sefik, Kuaikuai Duan, Yiheng Li, Brittney Sholar, Lindsey Evans, Jennifer G Mulle

Mol Psychiatry· November 2024

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Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs.
Hanwen Zhang, Ada McCarroll, Lilia Peyton, Sol Díaz de León-Guerrerro, Siwei Zhang, Jennifer G Mulle

Stem Cell Reports· October 2024

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Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.
Rebecca M Pollak, Esra Sefik, Katrina Aberizk, Kuaikuai Duan, Roberto Espana, Jennifer G Mulle

Psychol Med· October 2024

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Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.
Rebecca M Pollak, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Melissa M Murphy, Jennifer G Mulle

J Autism Dev Disord· August 2024

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Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity.
Esra Sefik, Ryan M Guest, Katrina Aberizk, Roberto Espana, Katrina Goines, Jennifer G Mulle

Psychiatry Res· May 2024

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Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSC.
Hanwen Zhang, Lilia Peyton, Ada McCarroll, Sol Díaz de León Guerrerro, Siwei Zhang, Jennifer G Mulle

bioRxiv· March 2024

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Musculoskeletal phenotypes in 3q29 deletion syndrome.
Rebecca M Pollak, Jacob C Tilmon, Melissa M Murphy, Michael J Gambello, Rossana Sanchez Russo, Jennifer G Mulle

Am J Med Genet A· November 2023

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Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Ryan H Purcell, Esra Sefik, Erica Werner, Alexia T King, Trenell J Mosley, Jennifer G Mulle

Sci Adv· August 2023

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Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Ryan H Purcell, Esra Sefik, Erica Werner, Alexia T King, Trenell J Mosley, Jennifer G Mulle

bioRxiv· May 2023

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High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J Mosley, Pille Hallast, Kwondo Kim, Jennifer G Mulle

Genome Med· May 2023

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Adaptive behavior deficits in individuals with 3q29 deletion syndrome.
Rebecca M Pollak, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Melissa M Murphy, Jennifer G Mulle

medRxiv· April 2023

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Musculoskeletal phenotypes in 3q29 deletion syndrome.
Rebecca M Pollak, Jacob C Tilmon, Melissa M Murphy, Michael J Gambello, Rossana Sanchez Russo, Jennifer G Mulle

medRxiv· April 2023

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Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
Barbara Biedziak, Justyna Dąbrowska, Anna Szponar-Żurowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Jennifer Mulle

Am J Med Genet A· January 2023

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Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.
Rebecca M Pollak, Jordan E Pincus, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Jennifer G Mulle

Mol Autism· December 2022

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Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
Alena Kozlova, Siwei Zhang, Alex V Kotlar, Brendan Jamison, Hanwen Zhang, Jennifer G Mulle

Am J Hum Genet· August 2022

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Symptoms of Pediatric Feeding Disorders Among Individuals with 3q29 Deletion Syndrome: A Case-Control Study.
Addam J Wawrzonek, William Sharp, Teresa Lindsey Burrell, Scott E Gillespie, Rebecca M Pollak, Jennifer G Mulle

J Dev Behav Pediatr· April 2022

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Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: "We Can't Just Wish This Thing Away".
Megan R Glassford, Ryan H Purcell, Sarah Pass, Melissa M Murphy, Gary J Bassell, Jennifer G Mulle

J Dev Behav Pediatr· March 2022

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Metabolic effects of the schizophrenia-associated 3q29 deletion.
Rebecca M Pollak, Ryan H Purcell, Timothy P Rutkowski, Tamika Malone, Kimberly J Pachura, Jennifer G Mulle

Transl Psychiatry· February 2022

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Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.
Jennifer Cable, Ryan H Purcell, Elise Robinson, Jacob A S Vorstman, Wendy K Chung, Jennifer G Mulle

Ann N Y Acad Sci· December 2021

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Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Cristina E Trevino, Aaron M Holleman, Holly Corbitt, Cheryl L Maslen, Tracie C Rosser, Jennifer G Mulle

Sci Rep· July 2021

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Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.
Esra Sefik, Ryan H Purcell, , Elaine F Walker, Gary J Bassell, Jennifer G Mulle

Transl Psychiatry· June 2021

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