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A retrospective review of LMNB1-related autosomal dominant leukodystrophy.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00055-w
By:
- Ortiz, Judit M. Perez;
- Muthusamy, Karthik;
- Tobin, W. Oliver;
- Gavrilova, Ralitza;
- Cousin, Margot A.;
- Dhamija, Radhika
Publication type:
Article
P²T²: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.
Published in:
JAMIA Open, 2021, v. 4, n. 3, p. 1, doi. 10.1093/jamiaopen/ooab065
By:
- DeVoe, Elias;
- Oliver, Gavin R.;
- Zenka, Roman;
- Blackburn, Patrick R.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Kocher, Jean-Pierre A.;
- Urrutia, Raul;
- Klee, EricW.;
- Zimmermann, Michael T.
Publication type:
Article
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 649, doi. 10.1007/s00439-024-02664-3
By:
- Ferrer, Alejandro;
- Duffy, Patrick;
- Olson, Rory J.;
- Meiners, Michael A.;
- Schultz-Rogers, Laura;
- Macke, Erica L.;
- Safgren, Stephanie;
- Morales-Rosado, Joel A.;
- Cousin, Margot A.;
- Oliver, Gavin R.;
- Rider, David;
- Williams, Megan;
- Pichurin, Pavel N.;
- Deyle, David R.;
- Morava, Eva;
- Gavrilova, Ralitza H.;
- Dhamija, Radhika;
- Wierenga, Klass J.;
- Lanpher, Brendan C.;
- Babovic-Vuksanovic, Dusica
Publication type:
Article
Cover.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1511
By:
- Morales‐Rosado, Joel A.;
- Macke, Erica L.;
- Cousin, Margot A.;
- Oliver, Gavin R.;
- Dhamija, Radhika;
- Klee, Eric W.
Publication type:
Article
Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1341
By:
- Morales‐Rosado, Joel A.;
- Macke, Erica L.;
- Cousin, Margot A.;
- Oliver, Gavin R.;
- Dhamija, Radhika;
- Klee, Eric W.
Publication type:
Article
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
Published in:
Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/7263780
By:
- Zimmermann, Michael T.;
- Urrutia, Raul A.;
- Blackburn, Patrick R.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Klee, Eric W.;
- Macmurdo, Colleen;
- Atwal, Paldeep S.
Publication type:
Article
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22627-w
By:
- Kour, Sukhleen;
- Rajan, Deepa S.;
- Fortuna, Tyler R.;
- Anderson, Eric N.;
- Ward, Caroline;
- Lee, Youngha;
- Lee, Sangmoon;
- Shin, Yong Beom;
- Chae, Jong-Hee;
- Choi, Murim;
- Siquier, Karine;
- Cantagrel, Vincent;
- Amiel, Jeanne;
- Stolerman, Elliot S.;
- Barnett, Sarah S.;
- Cousin, Margot A.;
- Castro, Diana;
- McDonald, Kimberly;
- Kirmse, Brian;
- Nemeth, Andrea H.
Publication type:
Article
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01064-4
By:
- Cousin, Margot A.;
- Veale, Emma L.;
- Dsouza, Nikita R.;
- Tripathi, Swarnendu;
- Holden, Robyn G.;
- Arelin, Maria;
- Beek, Geoffrey;
- Bekheirnia, Mir Reza;
- Beygo, Jasmin;
- Bhambhani, Vikas;
- Bialer, Martin;
- Bigoni, Stefania;
- Boelman, Cyrus;
- Carmichael, Jenny;
- Courtin, Thomas;
- Cogne, Benjamin;
- Dabaj, Ivana;
- Doummar, Diane;
- Fazilleau, Laura;
- Ferlini, Alessandra
Publication type:
Article
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1328, doi. 10.1002/ajmg.a.38113
By:
- Boczek, Nicole J.;
- Kruisselbrink, Teresa;
- Cousin, Margot A.;
- Blackburn, Patrick R.;
- Klee, Eric W.;
- Gavrilova, Ralitza H.;
- Lanpher, Brendan C.
Publication type:
Article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
By:
- Blackburn, Patrick R.;
- Zimmermann, Michael T.;
- Gass, Jennifer M.;
- Harris, Kimberly G.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Ross, Owen A.;
- Klee, Eric W.;
- Brazis, Paul W.;
- Van Gerpen, Jay A.;
- Atwal, Paldeep S.
Publication type:
Article
Larval Zebrafish Model for FDA-Approved Drug Repositioning for Tobacco Dependence Treatment.
Published in:
PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090467
By:
- Cousin, Margot A.;
- Ebbert, Jon O.;
- Wiinamaki, Amanda R.;
- Urban, Mark D.;
- Argue, David P.;
- Ekker, Stephen C.;
- Klee, Eric W.
Publication type:
Article
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
Published in:
2017
By:
- Blackburn, Patrick R.;
- Selcen, Duygu;
- Jackson, Jessica L.;
- Guthrie, Kimberly J.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Clift, Kristin E.;
- Klee, Eric W.;
- Dimberg, Elliot L.;
- Atwal, Paldeep S.
Publication type:
journal article
Zebrafish: a model for the study of addiction genetics.
Published in:
Human Genetics, 2012, v. 131, n. 6, p. 977, doi. 10.1007/s00439-011-1128-0
By:
- Klee, Eric;
- Schneider, Henning;
- Clark, Karl;
- Cousin, Margot;
- Ebbert, Jon;
- Hooten, W.;
- Karpyak, Victor;
- Warner, David;
- Ekker, Stephen
Publication type:
Article
Differences in the distribution of cytogenetic subtypes between multiple myeloma patients with and without a family history of monoclonal gammopathy and multiple myeloma.
Published in:
European Journal of Haematology, 2013, v. 91, n. 3, p. 193, doi. 10.1111/ejh.12133
By:
- Greenberg, Alexandra J.;
- Cousin, Margot;
- Kumar, Shaji;
- Ketterling, Rhett P.;
- Knudson, Ryan A.;
- Larson, Dirk;
- Colby, Colin;
- Scott, Christopher;
- Vachon, Celine M.;
- Vincent Rajkumar, S.
Publication type:
Article
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Published in:
PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0223337
By:
- Oliver, Gavin R.;
- Tang, Xiaojia;
- Schultz-Rogers, Laura E.;
- Vidal-Folch, Noemi;
- Jenkinson, W. Garrett;
- Schwab, Tanya L.;
- Gaonkar, Krutika;
- Cousin, Margot A.;
- Nair, Asha;
- Basu, Shubham;
- Chanana, Pritha;
- Oglesbee, Devin;
- Klee, Eric W.
Publication type:
Article
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
Published in:
Clinical Case Reports, 2016, v. 4, n. 9, p. 885, doi. 10.1002/ccr3.655
By:
- Boczek, Nicole J.;
- Sigafoos, Ashley N.;
- Zimmermann, Michael T.;
- Maus, Rachel L.;
- Cousin, Margot A.;
- Blackburn, Patrick R.;
- Urrutia, Raul;
- Clark, Karl J.;
- Patterson, Marc C.;
- Wick, Myra J.;
- Klee, Eric W.
Publication type:
Article
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 986, doi. 10.1007/s10875-022-01217-5
By:
- Donko, Agnes;
- Kuhns, Douglas B.;
- Cousin, Margot A.;
- Smith, Matthew J.;
- Sacco, Keith A.;
- Klee, Eric W.;
- Joshi, Avni Y.;
- Gavrilova, Ralitza H.;
- Holland, Steven M.;
- Leto, Thomas L.;
- Abraham, Roshini S.
Publication type:
Article
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Published in:
Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 307, doi. 10.1007/s10875-018-0499-6
By:
- Cousin, Margot A.;
- Smith, Matthew J.;
- Sigafoos, Ashley N.;
- Jin, Jay J.;
- Murphree, Marine I.;
- Boczek, Nicole J.;
- Blackburn, Patrick R.;
- Oliver, Gavin R.;
- Aleff, Ross A.;
- Clark, Karl J.;
- Wieben, Eric D.;
- Joshi, Avni Y.;
- Pichurin, Pavel N.;
- Abraham, Roshini S.;
- Klee, Eric W.
Publication type:
Article
A Critical Review of Repurposing Apomorphine for Smoking Cessation.
Published in:
Assay & Drug Development Technologies, 2015, v. 13, n. 10, p. 612, doi. 10.1089/adt.2015.680
By:
- Morales-Rosado, Joel A.;
- Cousin, Margot A.;
- Ebbert, Jon O.;
- Klee, Eric W.
Publication type:
Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 295, doi. 10.1002/mgg3.280
By:
- Blackburn, Patrick R.;
- Selcen, Duygu;
- Gass, Jennifer M.;
- Jackson, Jessica L.;
- Macklin, Sarah;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Klee, Eric W.;
- Dimberg, Elliot L.;
- Kennelly, Kathleen D.;
- Atwal, Paldeep S.
Publication type:
Article
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 269, doi. 10.1002/mgg3.283
By:
- Cousin, Margot A.;
- Matey, Eric T.;
- Blackburn, Patrick R.;
- Boczek, Nicole J.;
- McAllister, Tammy M.;
- Kruisselbrink, Teresa M.;
- Babovic‐Vuksanovic, Dusica;
- Lazaridis, Konstantinos N.;
- Klee, Eric W.
Publication type:
Article
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 141, doi. 10.1002/mgg3.268
By:
- Blackburn, Patrick R.;
- Williams, Monique;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Beek, Geoffrey J.;
- Lomberk, Gwen A.;
- Urrutia, Raul A.;
- Babovic‐Vuksanovic, Dusica;
- Klee, Eric W.
Publication type:
Article
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
Published in:
Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00276
By:
- Zimmermann, Michael T.;
- Urrutia, Raul;
- Cousin, Margot A.;
- Oliver, Gavin R.;
- Klee, Eric W.
Publication type:
Article
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
Published in:
PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170822
By:
- Zimmermann, Michael T.;
- Urrutia, Raul;
- Oliver, Gavin R.;
- Blackburn, Patrick R.;
- Cousin, Margot A.;
- Bozeck, Nicole J.;
- Klee, Eric W.
Publication type:
Article
Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants.
Published in:
Behavior Genetics, 2017, v. 47, n. 1, p. 125, doi. 10.1007/s10519-016-9818-y
By:
- Gerlai, Robert;
- Poshusta, Tanya;
- Rampersad, Mindy;
- Fernandes, Yohaan;
- Greenwood, Tammy;
- Cousin, Margot;
- Klee, Eric;
- Clark, Karl
Publication type:
Article
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
Published in:
Molecular Neurobiology, 2023, v. 60, n. 11, p. 6362, doi. 10.1007/s12035-023-03461-1
By:
- Neri, Irene;
- Ramazzotti, Giulia;
- Mongiorgi, Sara;
- Rusciano, Isabella;
- Bugiani, Marianna;
- Conti, Luciano;
- Cousin, Margot;
- Giorgio, Elisa;
- Padiath, Quasar S.;
- Vaula, Giovanna;
- Cortelli, Pietro;
- Manzoli, Lucia;
- Ratti, Stefano
Publication type:
Article
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.
Published in:
Bioinformatics, 2020, v. 36, n. 17, p. 4609, doi. 10.1093/bioinformatics/btaa259
By:
- Jenkinson, Garrett;
- Li, Yang I;
- Basu, Shubham;
- Cousin, Margot A;
- Oliver, Gavin R;
- Klee, Eric W
Publication type:
Article

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