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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6
By:
- 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.
Publication type:
Article
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6
By:
- 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.
Publication type:
Article
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2720, doi. 10.1002/ajmg.a.38351
By:
- Couser, Natario L.;
- Marchuk, Daniel S.;
- Smith, Laurie D.;
- Arreola, Alexandra;
- Kaiser‐Rogers, Kathleen A.;
- Muenzer, Joseph;
- Pandya, Arti;
- Gucsavas‐Calikoglu, Muge;
- Powell, Cynthia M.
Publication type:
Article
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Published in:
Nature Genetics, 2015, v. 47, n. 11, p. 1260, doi. 10.1038/ng.3376
By:
- Guimier, Anne;
- Liu, Hui;
- Noll, Aaron;
- El Malti, Rajae;
- Smith, Laurie D;
- Jimenez, Gina;
- Miller, Neil A;
- Oufadem, Myriam;
- Moreau de Bellaing, Anne;
- Saunders, Carol J;
- Thiffault, Isabelle;
- Bole-Feysot, Christine;
- Cooley, Linda D;
- Farrow, Emily G;
- Masson, Cécile;
- Nitschké, Patrick;
- Lyonnet, Stanislas;
- de Pontual, Loic;
- Bonnet, Damien;
- Kingsmore, Stephen F
Publication type:
Article
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Published in:
NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0045-8
By:
- 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.
Publication type:
Article
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
Published in:
BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-32
By:
- Dinwiddie, Darrell L;
- Soden, Sarah E.;
- Saunders, Carol J.;
- Miller, Neil A.;
- Farrow, Emily G.;
- Smith, Laurie D.;
- Kingsmore, Stephen F.
Publication type:
Article
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Published in:
Science Translational Medicine, 2014, v. 6, n. 265, p. 1, doi. 10.1126/scitranslmed.3010076
By:
- Soden, Sarah E.;
- Saunders, Carol J.;
- Willig, Laurel K.;
- Farrow, Emily G.;
- Smith, Laurie D.;
- Petrikin, Josh E.;
- LePichon, Jean-Baptiste;
- Miller, Neil A.;
- Thiffault, Isabelle;
- Dinwiddie, Darrell L.;
- Twist, Greyson;
- Noll, Aaron;
- Heese, Bryce A.;
- Zellmer, Lee;
- Atherton, Andrea M.;
- Abdelmoity, Ahmed T.;
- Safina, Nicole;
- Nyp, Sarah S.;
- Zuccarelli, Britton;
- Larson, Ingrid A.
Publication type:
Article
An ethical framework for responding to drug shortages in pediatric oncology.
Published in:
Pediatric Blood & Cancer, 2015, v. 62, n. 6, p. 931, doi. 10.1002/pbc.25461
By:
- Beck, Jill C.;
- Smith, Laurie D.;
- Gordon, Bruce G.;
- Garrett, Jeremy R.
Publication type:
Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.
Published in:
Human Mutation, 2015, v. 36, n. 6, p. 656, doi. 10.1002/humu.22790
By:
- Saunders, Carol J.;
- Moon, Sung Ho;
- Liu, Xinping;
- Thiffault, Isabelle;
- Coffman, Keith;
- LePichon, Jean‐Baptiste;
- Taboada, Eugenio;
- Smith, Laurie D.;
- Farrow, Emily G.;
- Miller, Neil;
- Gibson, Margaret;
- Patterson, Melanie;
- Kingsmore, Stephen F.;
- Gross, Richard W.
Publication type:
Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 301, doi. 10.1002/humu.22743
By:
- Saunders, Carol J.;
- Moon, Sung Ho;
- Liu, Xinping;
- Thiffault, Isabelle;
- Coffman, Keith;
- LePichon, Jean‐Baptiste;
- Taboada, Eugenio;
- Smith, Laurie D.;
- Farrow, Emily G.;
- Miller, Neil;
- Gibson, Margaret;
- Patterson, Melanie;
- Kingsmore, Stephen F.;
- Gross, Richard W.
Publication type:
Article
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Published in:
Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0221-8
By:
- Miller, Neil A.;
- Farrow, Emily G.;
- Gibson, Margaret;
- Willig, Laurel K.;
- Twist, Greyson;
- Yoo, Byunggil;
- Marrs, Tyler;
- Corder, Shane;
- Krivohlavek, Lisa;
- Walter, Adam;
- Petrikin, Josh E.;
- Saunders, Carol J.;
- Thiffault, Isabelle;
- Soden, Sarah E.;
- Smith, Laurie D.;
- Dinwiddie, Darrell L.;
- Herd, Suzanne;
- Cakici, Julie A.;
- Catreux, Severine;
- Ruehle, Mike
Publication type:
Article

Found: 11