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An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
Published in:
2015
By:
- de Bruin, Christiaan;
- Mericq, Verónica;
- Andrew, Shayne F;
- van Duyvenvoorde, Hermine A;
- Verkaik, Nicole S;
- Losekoot, Monique;
- Porollo, Aleksey;
- Garcia, Hernán;
- Kuang, Yi;
- Hanson, Dan;
- Clayton, Peter;
- van Gent, Dik C;
- Wit, Jan M;
- Hwa, Vivian;
- Dauber, Andrew
Publication type:
journal article
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Published in:
2013
By:
- Wang, Sophie R;
- Carmichael, Heather;
- Andrew, Shayne F;
- Miller, Timothy C;
- Moon, Jennifer E;
- Derr, Michael A;
- Hwa, Vivian;
- Hirschhorn, Joel N;
- Dauber, Andrew
Publication type:
journal article
A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.
Published in:
Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 397, doi. 10.1159/000534183
By:
- Giannakopoulos, Aristeidis;
- Papanastasiou, Anastasios D.;
- Zarkadis, Ioannis K.;
- Andrew, Shayne F.;
- Rosenfeld, Ron G.;
- Efthymiadou, Alexandra;
- Chrysis, Dionisios;
- Hwa, Vivian
Publication type:
Article
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
Published in:
Hormone Research in Paediatrics, 2017, v. 87, n. 6, p. 412, doi. 10.1159/000464143
By:
- Ocaranza, Paula;
- Golekoh, Marjorie C.;
- Andrew, Shayne F.;
- Guo, Michael H.;
- Kaplowitz, Paul;
- Saal, Howard;
- Rosenfeld, Ron G.;
- Dauber, Andrew;
- Cassorla, Fernando;
- Backeljauw, Philippe F.;
- Hwa, Vivian
Publication type:
Article
A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype.
Published in:
Hormone Research in Paediatrics, 2014, v. 82, n. 5, p. 344, doi. 10.1159/000368192
By:
- Swartz, Jonathan M.;
- akinci, aysehan;
- andrew, Shayne F.;
- Siğirci, ahmet;
- Hirschhorn, Joel N.;
- Rosenfeld, Ron G.;
- Dauber, andrew;
- Hwa, Vivian
Publication type:
Article
A Novel GHR Intronic Variant, c.266+83G>T, Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome.
Published in:
Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 397, doi. 10.1159/000355404
By:
- Feigerlova, Eva;
- Swinyard, Mike;
- Derr, Michael a.;
- Farnsworth, Jeannie;
- andrew, Shayne F.;
- Rosenfeld, Ron G.;
- Hwa, Vivian
Publication type:
Article
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04521-0
By:
- Klammt, Jürgen;
- Neumann, David;
- Gevers, Evelien F.;
- Andrew, Shayne F.;
- Schwartz, I. David;
- Rockstroh, Denise;
- Colombo, Roberto;
- Sanchez, Marco A.;
- Vokurkova, Doris;
- Kowalczyk, Julia;
- Metherell, Louise A.;
- Rosenfeld, Ron G.;
- Pfäffle, Roland;
- Dattani, Mehul T.;
- Dauber, Andrew;
- Hwa, Vivian
Publication type:
Article
Variant-proof high affinity ACE2 antagonist limits SARS-CoV-2 replication in upper and lower airways.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51046-w
By:
- Gagne, Matthew;
- Flynn, Barbara J.;
- Honeycutt, Christopher Cole;
- Flebbe, Dillon R.;
- Andrew, Shayne F.;
- Provost, Samantha J.;
- McCormick, Lauren;
- Van Ry, Alex;
- McCarthy, Elizabeth;
- Todd, John-Paul M.;
- Bao, Saran;
- Teng, I-Ting;
- Marciano, Shir;
- Rudich, Yinon;
- Li, Chunlin;
- Jain, Shilpi;
- Wali, Bushra;
- Pessaint, Laurent;
- Dodson, Alan;
- Cook, Anthony
Publication type:
Article
Protective antibodies elicited by SARS-CoV-2 spike protein vaccination are boosted in the lung after challenge in nonhuman primates.
Published in:
Science Translational Medicine, 2021, v. 13, n. 607, p. 1, doi. 10.1126/scitranslmed.abi4547
By:
- Francica, Joseph R.;
- Flynn, Barbara J.;
- Foulds, Kathryn E.;
- Noe, Amy T.;
- Werner, Anne P.;
- Moore, Ian N.;
- Gagne, Matthew;
- Johnston, Timothy S.;
- Tucker, Courtney;
- Davis, Rachel L.;
- Flach, Britta;
- O'Connell, Sarah;
- Andrew, Shayne F.;
- Lamb, Evan;
- Flebbe, Dillon R.;
- Nurmukhambetova, Saule T.;
- Donaldson, Mitzi M.;
- Todd, John-Paul M.;
- Zhu, Alex Lee;
- Atyeo, Caroline
Publication type:
Article

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