Publications by authors named "David A Sweetser"

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Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.
Jessica I Gold, Yehuda Elkaim, Nina B Gold, Stephanie Asher, Anna Raper, David A Sweetser

Am J Hum Genet· December 2025

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LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler

Clin Genet· September 2025

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Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series.
Cristina Viguera Altolaguirre, Andrew B Stergachis, David A Sweetser, Nina B Gold

Neurohospitalist· March 2025

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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, David A Sweetser

Am J Hum Genet· January 2025

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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, David A Sweetser

HGG Adv· July 2024

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Xueyang Pan, Alice M Tao, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, David A Sweetser

Am J Hum Genet· April 2024

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High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.
Alisa A Mueller, Takanori Sasaki, Joshua W Keegan, Jennifer P Nguyen, Alec Griffith, David A Sweetser

J Clin Invest· December 2023

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Allelic strengths of encephalopathy-associated variants correlate between in vivo and in vitro assays.
Xueyang Pan, Albert N Alvarez, Mengqi Ma, Shenzhao Lu, Michael W Crawford, David A Sweetser

Elife· December 2023

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Allelic strengths of encephalopathy-associated variants correlate between and assays.
Xueyang Pan, Albert N Alvarez, Mengqi Ma, Shenzhao Lu, Michael W Crawford, David A Sweetser

medRxiv· October 2023

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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, David A Sweetser

Genetics· August 2023

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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C Briere, Marion Rosello, David A Sweetser

Am J Hum Genet· August 2023

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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, David A Sweetser

Am J Hum Genet· August 2023

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Tle4 controls both developmental acquisition and early post-natal maturation of corticothalamic projection neuron identity.
Maria J Galazo, David A Sweetser, Jeffrey D Macklis

Cell Rep· August 2023

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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Daphne J Smits, Rachel Schot, Cristiana A Popescu, Kerith-Rae Dias, Lesley Ades, David A Sweetser

Hum Genet· July 2023

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A pooled electronic consultation program to improve access to genetics specialists.
Emma K Folkerts, Renée C Pelletier, Daniel C Chung, Susan A Goldstein, Douglas S Micalizzi, David A Sweetser

Genet Med Open· May 2023

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A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome.
Christian Lacks Lino Cardenas, Lauren C Briere, David A Sweetser, Mark E Lindsay, Patricia L Musolino

J Clin Invest· March 2023

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A missense variant in associated with developmental delay exhibits functional deficits in .
Sharayu Jangam, Lauren C Briere, Kristy Jay, Jonathan C Andrews, Melissa A Walker, David A Sweetser

medRxiv· February 2023

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A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists.
Emma K Folkerts, Renée C Pelletier, Daniel C Chung, Susan A Goldstein, Douglas S Micalizzi, David A Sweetser

medRxiv· February 2023

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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Yan Huang, Gabrielle Lemire, Lauren C Briere, Fang Liu, Marja W Wessels, David A Sweetser

Am J Hum Genet· November 2022

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Gain-of-function mutations in cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M Warner, David A Sweetser

Ann Rheum Dis· October 2022

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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Yan Huang, Gabrielle Lemire, Lauren C Briere, Fang Liu, Marja W Wessels, David A Sweetser

Am J Hum Genet· October 2022

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny, David A Sweetser

Am J Med Genet A· September 2022

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A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, David A Sweetser

J Inherit Metab Dis· September 2022

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