Not logged in Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants Mccarty, Riley M.; Saade, Dimah; Munot, Pinki; Laverty, Chamindra G.; Pinz, Hailey; Zou, Yaqun; Mcanally, Meghan; Yun, Pomi; Tian, Cuixia; Hu, Ying; Feng, Lucy; Phadke, Rahul; Ceulemans, Sophia; Magoulas, Pilar; Skalsky, Andrew J.; Friedman, Jennifer R.; Braddock, Stephen R.; Neuhaus, Sarah B.; Malicki, Denise M.; Bainbridge, Matthew N.; Nahas, Shareef; Dimmock, David P.; Kingsmore, Stephen F.; Lotze, Timothy E.; Foley, A. Reghan; Muntoni, Francesco; Straub, Volker; Donkervoort, Sandra; Bonnemann, Carsten G. Share Save
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The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap Jonker, Anneliene H.; Tataru, Elena-Alexandra; Graessner, Holm; Dimmock, David; Jaffe, Adam; Baynam, Gareth; Davies, James; Mitkus, Shruti; Iliach, Oxana; Horgan, Rich; Augustine, Erika F.; Bateman-House, Alison; Pasmooij, Anna Maria Gerdina; Yu, Tim; Synofzik, Matthis; Douville, Julie; Lapteva, Larissa; Brooks, Philip John; O'Connor, Daniel; Aartsma-Rus, Annemieke Share Save
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Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining Cakici, Julie A.; Dimmock, David; Caylor, Sara; Gaughran, Mary; Clarke, Christina; Triplett, Cynthia; Clark, Michelle M.; Kingsmore, Stephen F.; Bloss, Cinnamon S. Share Save
The evolution of the mitochondrial disease diagnostic odyssey (vol 18, 157, 2023) Thompson, John L. P.; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M.; Buchsbaum, Richard; Rosales, Xiomara Q.; Hirano, Michio Share Save
The evolution of the mitochondrial disease diagnostic odyssey Thompson, John L. P.; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M.; Buchsbaum, Richard; Rosales, Xiomara Q.; Hirano, Michio Share Save
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome Baghdassarian, Hratch; Blackstone, Sarah A.; Clay, Owen S.; Philips, Rachael; Matthiasardottir, Brynja; Nehrebecky, Michele; Hua, Vivian K.; McVicar, Rachael; Liu, Yang; Tucker, Suzanne M.; Randazzo, Davide; Deuitch, Natalie; Rosenzweig, Sofia; Mark, Adam; Sasik, Roman; Fisch, Kathleen M.; Pimpale Chavan, Pallavi; Eren, Elif; Watts, Norman R.; Ma, Chi A.; Gadina, Massimo; Schwartz, Daniella M.; Sanyal, Anwesha; Werner, Giffin; Murdock, David R.; Horita, Nobuyuki; Chowdhury, Shimul; Dimmock, David; Jepsen, Kristen; Remmers, Elaine F.; Goldbach-Mansky, Raphaela; Gahl, William A.; O'Shea, John J.; Milner, Joshua D.; Lewis, Nathan E.; Chang, Johanna; Kastner, Daniel L.; Torok, Kathryn; Oda, Hirotsugu; Putnam, Christopher D.; Broderick, Lori Share Save
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Response to Grosse et al. Kingsmore, Stephen F.; Smith, Laurie D.; Kunard, Chris M.; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P.; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C.; Guidugli, Lucia; Hall, Kevin P.; Hansen, Christian; Hobbs, Charlotte A.; Kahn, Scott D.; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H.; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R.; Oh, Danny; Owen, Mallory J.; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S.; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G.; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J.; Wolen, Aaron R.; Defay, Thomas Share Save
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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases Kingsmore, Stephen F.; Smith, Laurie D.; Kunard, Chris M.; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P.; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C.; Guidugli, Lucia; Hall, Kevin P.; Hansen, Christian; Hobbs, Charlotte A.; Kahn, Scott D.; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H.; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R.; Oh, Danny; Owen, Mallory J.; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S.; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G.; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J.; Wolen, Aaron R.; Defay, Thomas Share Save
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases Owen, Mallory J.; Lefebvre, Sebastien; Hansen, Christian; Kunard, Chris M.; Dimmock, David P.; Smith, Laurie D.; Scharer, Gunter; Mardach, Rebecca; Willis, Mary J.; Feigenbaum, Annette; Niemi, Anna-Kaisa; Ding, Yan; Van der Kraan, Luca; Ellsworth, Katarzyna; Guidugli, Lucia; Lajoie, Bryan R.; McPhail, Timothy K.; Mehtalia, Shyamal S.; Chau, Kevin K.; Kwon, Yong H.; Zhu, Zhanyang; Batalov, Sergey; Chowdhury, Shimul; Rego, Seema; Perry, James; Speziale, Mark; Nespeca, Mark; Wright, Meredith S.; Reese, Martin G.; De la Vega, Francisco M.; Azure, Joe; Frise, Erwin; Rigby, Charlene Son; White, Sandy; Hobbs, Charlotte A.; Gilmer, Sheldon; Knight, Gail; Oriol, Albert; Lenberg, Jerica; Nahas, Shareef A.; Perofsky, Kate; Kim, Kyu; Carroll, Jeanne; Coufal, Nicole G.; Sanford, Erica; Wigby, Kristen; Weir, Jacqueline; Thomson, Vicki S.; Fraser, Louise; Lazare, Seka S.; Shin, Yoon H.; Grunenwald, Haiying; Lee, Richard; Jones, David; Tran, Duke; Gross, Andrew; Daigle, Patrick; Case, Anne; Lue, Marisa; Richardson, James A.; Reynders, John; Defay, Thomas; Hall, Kevin P.; Veeraraghavan, Narayanan; Kingsmore, Stephen F. Share Save
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Genome-to-treatment: A system to guide the acute management of genetic disorders in children Willis, Mary; Owen, Mallory; Lefebvre, Sebastien; Hanson, Christian; Dimmock, David; Scharer, Gunter; Mardach, Rebecca; Feigenbaum, Annette; Smith, Laurie; Kingsmore, Stephen Share Save
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes Yang, Jennifer H.; Friederich, Marisa W.; Ellsworth, Katarzyna A.; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C.; Rupar, C. Anthony; Hegele, Robert A.; Manickam, Kandamurugu; Koboldt, Daniel C.; Crist, Erin; Choi, Samantha S.; Farhan, Sali M. K.; Harvey, Helen; Sattar, Shifteh; Karp, Natalya; Wong, Terence; Haas, Richard; Van Hove, Johan L. K.; Wigby, Kristen Share Save
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease A Randomized Clinical Trial Krantz, Ian D.; Medne, Livija; Weatherly, Jamila M.; Wild, Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P.; Abdul-Rahman, Omar; Euteneuer, Joshua C.; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adamj.; Vargas-Shiraishi, Ofelia M.; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A.; Baldridge, Dustin; Cole, F. Sessions; Wegner, Daniel J.; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J.; Pivnick, Eniko K.; Ward, Jewell C.; Talati, Ajay; Brown, Chester W.; Belmont, Johnw.; Ortega, Julia L.; Robinson, Keisha D.; Brocklehurst, W. Tyler; Perry, Denise L.; Ajay, Subramanian S.; Hagelstrom, R. Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J. Share Save
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Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Jaman, Nazreen B. Kamarus; Kurian, Manju A.; Morava, Eva; Naess, Karin; Dario Ortigoza-Escobar, Juan; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskar, Karin B.; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence A.; Fellman, Vineta; Rahman, Shamima Share Save
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