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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
Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
Published in:
2018
By:
- Huusko, Johanna M.;
- Karjalainen, Minna K.;
- Graham, Britney E.;
- Zhang, Ge;
- Farrow, Emily G.;
- Miller, Neil A.;
- Jacobsson, Bo;
- Eidem, Haley R.;
- Murray, Jeffrey C.;
- Bedell, Bruce;
- Breheny, Patrick;
- Brown, Noah W.;
- Bødker, Frans L.;
- Litterman, Nadia K.;
- Jiang, Pan-Pan;
- Russell, Laura;
- Hinds, David A.;
- Hu, Youna;
- Rokas, Antonis;
- Teramo, Kari
Publication type:
Correction Notice
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
Published in:
PLoS Genetics, 2018, v. 14, n. 7, p. 1, doi. 10.1371/journal.pgen.1007394
By:
- Huusko, Johanna M.;
- Karjalainen, Minna K.;
- Graham, Britney E.;
- Zhang, Ge;
- Farrow, Emily G.;
- Miller, Neil A.;
- Jacobsson, Bo;
- Eidem, Haley R.;
- Murray, Jeffrey C.;
- Bedell, Bruce;
- Breheny, Patrick;
- Brown, Noah W.;
- Bødker, Frans L.;
- Litterman, Nadia K.;
- Jiang, Pan-Pan;
- Russell, Laura;
- Hinds, David A.;
- Hu, Youna;
- null, null;
- Rokas, Antonis
Publication type:
Article
Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-44980-2
By:
- Groza, Cristian;
- Schwendinger-Schreck, Carl;
- Cheung, Warren A.;
- Farrow, Emily G.;
- Thiffault, Isabelle;
- Lake, Juniper;
- Rizzo, William B.;
- Evrony, Gilad;
- Curran, Tom;
- Bourque, Guillaume;
- Pastinen, Tomi
Publication type:
Article
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.
Published in:
2009
By:
- Brown, Whitney W;
- Jüppner, Harald;
- Langman, Craig B;
- Price, Heather;
- Farrow, Emily G;
- White, Kenneth E;
- McCormick, Kenneth L
Publication type:
journal 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
Genetic heterogeneity and enrichment of variants in DNA‐repair genes in ameloblastoma.
Published in:
Journal of Oral Pathology & Medicine, 2023, v. 52, n. 3, p. 263, doi. 10.1111/jop.13410
By:
- Awotoye, Waheed;
- Whitt, Joseph Craig;
- Yoo, Byunggil;
- Farooqi, Midhat S.;
- Farrow, Emily G.;
- Allareddy, Veerasathpurush;
- Amendt, Brad A.;
- Rengasamy Venugopalan, Shankar
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
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
Published in:
Clinical Chemistry, 2024, v. 70, n. 4, p. 577, doi. 10.1093/clinchem/hvae025
By:
- Saunders, Carol J;
- Brunelli, Luca;
- Deem, Michael J;
- Farrow, Emily G;
- Hegde, Madhuri;
- Stark, Zornitza
Publication type:
Article
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Published in:
Clinical Chemistry, 2022, v. 68, n. 9, p. 1177, doi. 10.1093/clinchem/hvac113
By:
- Lansdon, Lisa A.;
- Cadieux-Dion, Maxime;
- Herriges, John C.;
- Johnston, Jeffrey;
- Byunggil Yoo;
- Alaimo, Joseph T.;
- Thiffault, Isabelle;
- Miller, Neil;
- Cohen, Ana S. A.;
- Repnikova, Elena A.;
- Lei Zhang;
- Farooqi, Midhat S.;
- Farrow, Emily G.;
- Saunders, Carol J.
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
Diagnostics of Primary immunodeficiencies through next-generation sequencing.
Published in:
Frontiers in Immunology, 2016, v. 7, p. 1, doi. 10.3389/fimmu.2016.00466
By:
- Gallo, Vera;
- Dotta, Laura;
- Giardino, Giuliana;
- Cirillo, Emilia;
- Lougaris, Vassilios;
- D'Assante, Roberta;
- Prandini, Alberto;
- Consolini, Rita;
- Farrow, Emily G.;
- Thiffault, Isabelle;
- Saunders, Carol J.;
- Leonardi, Antonio;
- Plebani, Alessandro;
- Badolato, Raffaele;
- Pignata, Claudio
Publication type:
Article
Alström Syndrome: Mutation Spectrum of ALMS1.
Published in:
Human Mutation, 2015, v. 36, n. 7, p. 660, doi. 10.1002/humu.22796
By:
- Marshall, Jan D.;
- Muller, Jean;
- Collin, Gayle B.;
- Milan, Gabriella;
- Kingsmore, Stephen F.;
- Dinwiddie, Darrell;
- Farrow, Emily G.;
- Miller, Neil A.;
- Favaretto, Francesca;
- Maffei, Pietro;
- Dollfus, Hélène;
- Vettor, Roberto;
- Naggert, Jürgen K.
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
Using dried blood spots for variant analysis for patients with haemophilia.
Published in:
Haemophilia, 2019, v. 25, n. 5, p. e339, doi. 10.1111/hae.13824
By:
- Amos, Lauren E.;
- Yoo, Byunggil;
- Miller, Neil;
- Farrow, Emily G.;
- Walter, Adam;
- Gibson, Margaret;
- Durham, Sara;
- Herd, Suzanne;
- Soden, Sarah;
- Carpenter, Shannon L.
Publication type:
Article
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52407-1
By:
- Smail, Craig;
- Ge, Bing;
- Keever-Keigher, Marissa R.;
- Schwendinger-Schreck, Carl;
- Cheung, Warren A.;
- Johnston, Jeffrey J.;
- Barrett, Cassandra;
- Feldman, Keith;
- Cohen, Ana S. A.;
- Farrow, Emily G.;
- Thiffault, Isabelle;
- Grundberg, Elin;
- Pastinen, Tomi
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
Neonatal Iron Deficiency Causes Abnormal Phosphate Metabolism by Elevating FGF23 in Normal and ADHR Mice.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 2, p. 361, doi. 10.1002/jbmr.2049
By:
- Clinkenbeard, Erica L;
- Farrow, Emily G;
- Summers, Lelia J;
- Cass, Taryn A;
- Roberts, Jessica L;
- Bayt, Christine A;
- Lahm, Tim;
- Albrecht, Marjorie;
- Allen, Matthew R;
- Peacock, Munro;
- White, Kenneth E
Publication type:
Article

Found: 19