Publications by authors named "James Lupski"

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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, James R Lupski

medRxiv· December 2025

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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Haowei Du, Ming Yin Lun, Lidiia Gagarina, Jesse D Bengtsson, Christopher M Grochowski, James R Lupski

Genome Med· December 2025

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, James R Lupski

Ann Neurol· November 2025

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, James R Lupski

Nature· November 2025

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CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
Kamal Khan, Erika Tavares, Katherine Bishara, Aysegul Ozanturk, Leila Qebibo, James R Lupski

Sci Adv· October 2025

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Allele-specific correction of ATAD3A pathogenic variants via template-free CRISPR-Cas9 editing and gene conversion.
Taejeong Bae, Yohan Park, Anel LaGrone, Milovan Suvakov, Ping Zhang, James R Lupski

bioRxiv· October 2025

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Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics.
Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, Juliana F Mazzeu, Janson White, James R Lupski

bioRxiv· August 2025

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Improving automated deep phenotyping through large language models using retrieval-augmented generation.
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E Andres Rivera-Munoz, James R Lupski

Genome Med· August 2025

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Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Archana Rai, Jonathan Klonowski, Bo Yuan, Karen J Coveler, Zain Dardas, James R Lupski

Am J Hum Genet· July 2025

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EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.
Lianlei Wang, Xinyu Yang, Sen Zhao, Pengfei Zheng, Wen Wen, James R Lupski

Elife· July 2025

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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, James R Lupski

Am J Hum Genet· July 2025

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Domain specific phenotypic expansion associated with variants in .
Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, Paulina Bahena-Carbajal, Jonathan A Bernstein, James R Lupski

medRxiv· June 2025

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Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency.
Manar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, Ivan K Chinn, Lisa R Forbes Satter, James R Lupski

J Allergy Clin Immunol· May 2025

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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Zain Dardas, Laura Harrold, Daniel G Calame, Claire G Salter, Takashi Kikuma, James R Lupski

Am J Hum Genet· May 2025

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2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility.
James R Lupski

Am J Hum Genet· March 2025

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Ivana Lessel, Anja Baresic, Ivan K Chinn, Jonathan May, Anu Goenka, James R Lupski

Am J Hum Genet· February 2025

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands, James R Lupski

Nat Commun· February 2025

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is implicated in central nervous system, orofacial and maxillofacial anomalies.
Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, James R Lupski

J Med Genet· January 2025

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Monoallelic expression can govern penetrance of inborn errors of immunity.
O'Jay Stewart, Conor Gruber, Haley E Randolph, Roosheel Patel, Meredith Ramba, James R Lupski

Nature· January 2025

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The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.
Luis A Pedroza, Frederique van den Haak, Alexander Frumovitz, Evelyn Hernandez, Everardo Hegewisch-Solloa, James R Lupski

Cell Rep· January 2025

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Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation.
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E Andres Rivera-Munoz, James R Lupski

medRxiv· December 2024

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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun, James R Lupski

Genome Med· December 2024

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, James R Lupski

ArXiv· December 2024

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Variants in , a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Youn Hee Jee, Julian C Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, James R Lupski

Genet Med Open· December 2024

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The impact of the Turkish population variome on the genomic architecture of rare disease traits.
Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, James R Lupski

Genet Med Open· February 2024

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