JamesLupskiMD

PubMed

• Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
  Michael E Horesh, Marta Martin-Fernandez, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hod...> ;The Journal of Experimental Medicine. 2024 Jun 3
• Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
  Tugce Bozkurt-Yozgatli, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, Zeynep Coban-Akdemir, Davut Pehlivan, James R Lupski> ;BMC Medical Genomics. 2024 Apr 16
• Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
  Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie...> ;Brain. 2024 Apr 4
• NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
  Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin...> ;Genome Medicine. 2024 Apr 3
• Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk fo...
  Mengqi Ma, Mythily Ganapathi, Yiming Zheng, Kai-Li Tan, Oguz Kanca, Kevin E Bove, Norma Quintanilla, Sebnem O Sag, Sehime G Temel, Charles A LeDuc, Amanda J McPartland...> ;Genetics in Medicine. 2024 Mar 21
• Clinical and molecular characterization of patients with YWHAG-related epilepsy.
  Valentina Cetica, Tiziana Pisano, Gaetan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Allan Bayat, Meena Balasubramanian, Danie...> ;Epilepsia. 2024 Mar 16
• Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
  James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Carolyn A Allan, David J Amor, Siddharth Banka, Donald G Basel, Laura D Buc...> ;American Journal of Human Genetics. 2024 Mar 7
• Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
  Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
• Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32.
  Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Claudia Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs,...> ;Research Square. 2024 Feb 19
• Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
  Almannai, M., Marafi, D., Zaki, M., Maroofian, R., Efthymiou, S., Saadi, N., Filimban, B., Dafsari, H., Rahman, F., Maqbool, S., Faqeih, E., Al Mutairi, F., Alsharhan,...> ;Clinical Genetics. 2024 Feb 14
• Biallelic variation in the choline and ethanolamine transporterunderlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
  Calame, D., Wong, J., Panda, P., Nguyen, D., Leong, N., Sangermano, R., Patankar, S., Abdel-Hamid, M., AlAbdi, L., Safwat, S., Flannery, K., Dardas, Z., Fatih, J., Mur...> ;Medrxiv. 2024 Feb 13
• β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
  Reed, A., Peraza, J., van den Haak, F., Hernandez, E., Gibbs, R., Chinn, I., Lupski, J., Marchi, E., Reshef, R., Alobeid, B., Mace, E., Orange, J.> ;Journal of Immunology. 2024 Mar 15
• Loss of symmetric cell division of apical neural progenitors drives-related developmental and epileptic encephalopathy.
  Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Levesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem ...> ;Medrxiv. 2024 Jan 31
• Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
  Bassani, S., Chrast, J., Ambrosini, G., Voisin, N., Schütz, F., Brusco, A., Sirchia, F., Turban, L., Schubert, S., Jamra, R., Schlump, J., DeMille, D., Bayrak-Toydemir...> ;Medrxiv. 2024 Jan 17
• 2 citations
  Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
  M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M Jesús Zavala,...> ;European Journal of Human Genetics. 2024 Jan 4
• 2 citations
  HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
  Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici,...> ;Nucleic Acids Research. 2024 Feb 28
• 1 citations
  Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
  Maroofian, R., Zamani, M., Kaiyrzhanov, R., Liebmann, L., Karimiani, E., Vona, B., Huebner, A., Calame, D., Misra, V., Sadeghian, S., Azizimalamiri, R., Mohammadi, M.,...> ;Genetics in Medicine. 2024 Mar 1
• Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
  Priya T Bhola, Radha Mishra, Jennifer E Posey, Leslie E Hamilton, Gail E Graham, Jaya Punetha, , James R Lupski, Kym M Boycott, Damien D'Amours, Kristin D Kernohan> ;American Journal of Medical Genetics. Part A. 2024 Mar 1
• PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
  Florence Petit, Mauro Longoni, Julie Wells, Richard S Maser, Eric L Bogenschutz, Matthew J Dysart, Hannah T M Contreras, Frederic Frénois, Barbara R Pober, Robin D Cla...> ;American Journal of Human Genetics. 2023 Oct 5
• 1 citations
  Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
  Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K Saad, Haowei Du, Jawid M Fatih, Jill V Hunter, Hasnaa M Elbendary, Shah...> ;Journal of Inherited Metabolic Disease. 2023 Nov 1
• Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
  Joshua B Alinger, Emily M Mace, Justin R Porter, Annelise Y Mah-Som, Allyssa L Daugherty, Stephanie Li, Allison A Throm, Jeanette T Pingel, Nermina Saucier, Albert Yao...> ;The Journal of Allergy and Clinical Immunology. 2024 Jan 1
• Somatic cell structural variant mutagenesis and neurologic disease.
  James R Lupski> ;Cell Genomics. 2023 Aug 9
• Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, in...
  Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Anna Alkelai, Alan Shuldiner, Stephanie Efthymiou, Farrah Rajabi, Stephanie Coury, Catherine A B...> ;Human Molecular Genetics. 2023 Oct 4
• Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
  Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Gha...> ;Brain. 2023 Dec 1
• 1 citations
  Rare variant enrichment analysis supportsas a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
  Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M Grochowski, Ruizhi Duan, Jawid M Fatih, Moez Dawood, Sejal Salvi, Shalini N Jhangiani, Donna...> ;HGG Advances. 2023 Jul 13
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Journal Articles

• Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies  
  Scott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature
• A Comprehensive Clinical and Genetic Study in 127 Patients with ID in Kinshasa, DR Congo  
  James R Lupski, Jennifer Posey, American Journal of Medical Genetics Part A