Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
Willig, Laurel K, Petrikin, Josh E, Smith, Laurie D, Saunders, Carol J, Thiffault, Isabelle, Miller, Neil A, Soden, Sarah E, Cakici, Julie A, Herd, Suzanne M, Twist, Greyson, Noll, Aaron, Creed, Mitchell, Alba, Patria M, Carpenter, Shannon L, Clements, Mark A, Fischer, Ryan T, Hays, J Allyson, Kilbride, Howard, McDonough, Ryan J, Rosterman, Jamie L, Tsai, Sarah L, Zellmer, Lee, Farrow, Emily G, Kingsmore, Stephen F
Published in The lancet respiratory medicine (01.05.2015)
Published in The lancet respiratory medicine (01.05.2015)
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A highly annotated whole-genome sequence of a Korean individual
Seo, Jeong-Sun, Kim, Jong-Il, Ju, Young Seok, Park, Hansoo, Kim, Sheehyun, Lee, Seonwook, Yi, Jae-Hyuk, Mudge, Joann, Miller, Neil A, Hong, Dongwan, Bell, Callum J, Kim, Hye-Sun, Chung, In-Soon, Lee, Woo-Chung, Lee, Ji-Sun, Seo, Seung-Hyun, Yun, Ji-Young, Woo, Hyun Nyun, Lee, Heewook, Suh, Dongwhan, Lee, Seungbok, Kim, Hyun-Jin, Yavartanoo, Maryam, Kwak, Minhye, Zheng, Ying, Lee, Mi Kyeong, Park, Hyunjun, Kim, Jeong Yeon, Gokcumen, Omer, Mills, Ryan E, Zaranek, Alexander Wait, Thakuria, Joseph, Wu, Xiaodi, Kim, Ryan W, Huntley, Jim J, Luo, Shujun, Schroth, Gary P, Wu, Thomas D, Kim, HyeRan, Yang, Kap-Seok, Park, Woong-Yang, Kim, Hyungtae, Church, George M, Lee, Charles, Kingsmore, Stephen F
Published in Nature (London) (20.08.2009)
Published in Nature (London) (20.08.2009)
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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Guimier, Anne, Gabriel, George C, Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D, Klena, Nikolai T, Jimenez, Gina, Miller, Neil A, Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J, Baker, Candice N, Di Filippo, Sylvie, Peterson, Kevin A, Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D, Farrow, Emily G, Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A, Bonnet, Damien, Kingsmore, Stephen F, Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W, Gordon, Christopher T
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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Identification of mycoparasitism-related genes against the phytopathogen Sclerotinia sclerotiorum through transcriptome and expression profile analysis in Trichoderma harzianum
Steindorff, Andrei Stecca, Ramada, Marcelo Henrique Soller, Coelho, Alexandre Siqueira Guedes, Miller, Robert Neil Gerard, Pappas, Jr, Georgios Joannis, Ulhoa, Cirano José, Noronha, Eliane Ferreira
Published in BMC genomics (18.03.2014)
Published in BMC genomics (18.03.2014)
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CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project
Gaedigk, Andrea, Boone, Erin C, Scherer, Steven E, Lee, Seung-Been, Numanagić, Ibrahim, Sahinalp, Cenk, Smith, Joshua D, McGee, Sean, Radhakrishnan, Aparna, Qin, Xiang, Wang, Wendy Y, Farrow, Emily G, Gonzaludo, Nina, Halpern, Aaron L, Nickerson, Deborah A, Miller, Neil A, Pratt, Victoria M, Kalman, Lisa V
Published in The Journal of molecular diagnostics : JMD (01.04.2022)
Published in The Journal of molecular diagnostics : JMD (01.04.2022)
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Synthesis and Pharmacological Evaluation of Dual Acting Ligands Targeting the Adenosine A2A and Dopamine D2 Receptors for the Potential Treatment of Parkinson’s Disease
Jörg, Manuela, May, Lauren T, Mak, Frankie S, Lee, Kiew Ching K, Miller, Neil D, Scammells, Peter J, Capuano, Ben
Published in Journal of medicinal chemistry (22.01.2015)
Published in Journal of medicinal chemistry (22.01.2015)
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The Association Between Craniofacial Fracture Patterns and Traumatic Optic Neuropathy
Hassan, Bashar, Yoon, Joshua, Elegbede, Adekunle, Merbs, Shannath L, Liang, Fan, Miller, Neil R, Manson, Paul N, Grant, Michael P
Published in The Journal of craniofacial surgery (27.03.2024)
Published in The Journal of craniofacial surgery (27.03.2024)
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Physiologically Based Pharmacokinetic Modelling of Inhaled Nemiralisib: Mechanistic Components for Pulmonary Absorption, Systemic Distribution, and Oral Absorption
Miller, Neil A., Graves, Rebecca H., Edwards, Chris D., Amour, Augustin, Taylor, Ed, Robb, Olivia, O’Brien, Brett, Patel, Aarti, Harrell, Andrew W., Hessel, Edith M.
Published in Clinical pharmacokinetics (01.02.2022)
Published in Clinical pharmacokinetics (01.02.2022)
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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Petrikin, Josh E., Cakici, Julie A., Clark, Michelle M., Willig, Laurel K., Sweeney, Nathaly M., Farrow, Emily G., Saunders, Carol J., Thiffault, Isabelle, Miller, Neil A., Zellmer, Lee, Herd, Suzanne M., Holmes, Anne M., Batalov, Serge, Veeraraghavan, Narayanan, Smith, Laurie D., Dimmock, David P., Leeder, J. Steven, Kingsmore, Stephen F.
Published in Npj genomic medicine (09.02.2018)
Published in Npj genomic medicine (09.02.2018)
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Peripapillary Retinal Nerve Fiber Layer Swelling Predicts Peripapillary Atrophy in a Primate Model of Nonarteritic Anterior Ischemic Optic Neuropathy
Johnson, Mary A, Miller, Neil R, Nolan, Theresa, Bernstein, Steven L
Published in Investigative ophthalmology & visual science (01.02.2016)
Published in Investigative ophthalmology & visual science (01.02.2016)
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Synthetic DNA system for structure-function studies of the high affinity CO2 uptake NDH-13 protein complex in cyanobacteria
Artier, Juliana, Holland, Steven C., Miller, Neil T., Zhang, Minquan, Burnap, Robert L.
Published in Biochimica et biophysica acta. Bioenergetics (01.10.2018)
Published in Biochimica et biophysica acta. Bioenergetics (01.10.2018)
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Guidelines of the International Headache Society for Controlled Clinical Trials in Idiopathic Intracranial Hypertension
Mollan, Susan P., Fraser, Clare L., Digre, Kathleen B., Diener, Hans-Christoph, Lipton, Richard B., Juhler, Marianne, Miller, Neil R., Pozo-Rosich, Patricia, Togha, Mansoureh, Brock, Kristian, Dinkin, Marc J., Chan, Carmen K. M., Tassorelli, Cristina, Sinclair, Alex J., Terwindt, Gisela M., Jensen, Rigmor H.
Published in Cephalalgia (01.08.2023)
Published in Cephalalgia (01.08.2023)
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Flow dynamics of cerebrospinal fluid between the intracranial cavity and the subarachnoid space of the optic nerve measured with a diffusion magnetic resonance imaging sequence in patients with normal tension glaucoma
Boye, Dirk, Montali, Margherita, Miller, Neil R, Pircher, Achmed, Gruber, Philipp, Killer, Hanspeter E, Remonda, Luca, Berberat, Jatta
Published in Clinical & experimental ophthalmology (01.07.2018)
Published in Clinical & experimental ophthalmology (01.07.2018)
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Cerebrospinal fluid exchange in the optic nerve in normal-tension glaucoma
Killer, Hanspeter E, Miller, Neil R, Flammer, Josef, Meyer, Peter, Weinreb, Robert N, Remonda, Luca, Jaggi, Gregor P
Published in British journal of ophthalmology (01.04.2012)
Published in British journal of ophthalmology (01.04.2012)
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