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To what extent are de novo DNA rearrangements in the human genome responsible for sporadic human disease traits? How many human Mendelian and complex traits, as well as sporadic genomic disorders, developmental disabilities and birth defects, are due to structural changes and/or gene copy number variants (CNV)? To what extent is secondary structure mutagenesis, rather than W-C base pair changes, underlying variant alleles and human disease traits? What are the molecular mechanisms for human genomic rearrangements and structural variant (SV) mutagenesis? The answers to these questions will impact both prenatal and postnatal molecular diagnostics, as well as patient and family management and therapeutics. Moreover, the answers have profound implications for organismal developmental biology, biological homeostasis, and human gene and human genome evolution.
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medRxiv : the preprint server for health sciences (2024)
M. Cecilia Poli,Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana,Gabriela Moreno, Luz M. Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M. Jesús Zavala, Trinidad Hasbún, Sara Fischer,
European Journal of Human Geneticspp.1-11, (2024)
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,Ivan K. Chinn,James R. Lupski,
Michael E Horesh, Marta Martin-Fernandez,Conor Gruber,Sofija Buta,Tom Le Voyer, Eve Puzenat,Harry Lesmana,Yiming Wu,Ashley Richardson,David Stein,Stephanie Hodeib,Mariam Youssef,
The Journal of experimental medicineno. 6 (2024)
Haowei Du,Zain Dardas,Angad Jolly, Christopher M. Grochowski,Shalini N. Jhangiani,He Li,Donna Muzny,Jawid M. Fatih,Gozde Yesil,Nursel H. Elcioglu,Alper Gezdirici,Dana Marafi,
NUCLEIC ACIDS RESEARCHno. 4 (2024): e18-e18
CLINICAL GENETICS (2024)
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,Ivan K. Chinn,James R. Lupski,
GENETICS IN MEDICINEno. 3 (2024)
Abigail E Reed, Jackeline Peraza, Frederique van den Haak, Evelyn R Hernandez,Richard A Gibbs,Ivan K Chinn,James R Lupski,Enrica Marchi,Ran Reshef, Bachir Alobeid,Emily M Mace,Jordan S Orange
Journal of immunology (Baltimore, Md. : 1950)no. 6 (2024): 962-973
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