• 2635 Citations
  • 30 Scopus h-Index
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2019

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

Oliver, G. R., Tang, X., Schultz-Rogers, L. E., Vidal-Folch, N., Garrett Jenkinson, W., Schwab, T. L., Gaonkar, K., Cousin, M. A., Nair, A., Basu, S., Chanana, P., Oglesbee, D. & Klee, E. W., Jan 1 2019, In : PloS one. 14, 10, e0223337.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Aurora kinase B-phosphorylated HP1α functions in chromosomal instability

Williams, M. M., Mathison, A. J., Christensen, T., Greipp, P. T., Knutson, D. L., Klee, E. W., Zimmermann, M. T., Iovanna, J., Lomberk, G. A. & Urrutia, R. A., Jun 18 2019, In : Cell Cycle. 18, 12, p. 1407-1421 15 p.

Research output: Contribution to journalArticle

Open Access

Case-Based Learning in Translational Biomedical Research Education: Providing Realistic and Adaptive Skills for Early-Career Scientists

Greenberg-Worisek, A. J., Campbell, K. A., Klee, E. W., Staff, N. P., Schimmenti, L. A., Weavers, K. M., Ekker, S. C. & Windebank, A. J., Feb 1 2019, In : Academic medicine : journal of the Association of American Medical Colleges. 94, 2, p. 213-216 4 p.

Research output: Contribution to journalArticle

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias

Mangaonkar, A. A., Ferrer, A., Pinto e Vairo, F., Cousin, M. A., Kuisle, R. J., Gangat, N., Hogan, W. J., Litzow, M. R., McAllister, T. M., Klee, E. W., Lazaridis, K. N., Stewart, A. K. & Patnaik, M. M., Sep 2019, In : Mayo Clinic proceedings. 94, 9, p. 1753-1768 16 p.

Research output: Contribution to journalArticle

1 Scopus citations

Clinical spectrum of STX1B -related epileptic disorders

Wolking, S., May, P., Mei, D., Møller, R. S., Balestrini, S., Helbig, K. L., Altuzarra, C. D., Chatron, N., Kaiwar, C., Stöhr, K., Widdess-Walsh, P., Mendelsohn, B. A., Numis, A., Cilio, M. R., Van Paesschen, W., Svendsen, L. L., Oates, S., Hughes, E., Goyal, S., Brown, K. & 31 others, Sifuentes Saenz, M., Dorn, T., Muhle, H., Pagnamenta, A. T., Vavoulis, D. V., Knight, S. J. L., Taylor, J. C., Canevini, M. P., Darra, F., Gavrilova, R. H., Powis, Z., Tang, S., Marquetand, J., Armstrong, M., McHale, D., Klee, E. W., Kluger, G. J., Lowenstein, D. H., Weckhuysen, S., Pal, D. K., Helbig, I., Guerrini, R., Thomas, R. H., Rees, M. I., Lesca, G., Sisodiya, S. M., Weber, Y. G., Lal, D., Marini, C., Lerche, H. & Schubert, J., Mar 12 2019, In : Neurology. 92, 11, p. E1238-E1249

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

DDD Study, Dec 1 2019, In : Genetics in Medicine. 21, 12, p. 2723-2733 11 p.

Research output: Contribution to journalArticle

2 Scopus citations

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

DDD Study, Apr 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 570-578 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen, S., van der Werf, I. M., Innes, A. M., Afenjar, A., Agrawal, P. B., Anderson, I. J., Atwal, P. S., van Binsbergen, E., van den Boogaard, M. J., Castiglia, L., Coban-Akdemir, Z. H., van Dijck, A., Doummar, D., van Eerde, A. M., van Essen, A. J., van Gassen, K. L., Guillen Sacoto, M. J., van Haelst, M. M., Iossifov, I., Jackson, J. L. & 31 others, Judd, E., Kaiwar, C., Keren, B., Klee, E. W., Klein Wassink-Ruiter, J. S., Meuwissen, M. E., Monaghan, K. G., de Munnik, S. A., Nava, C., Ockeloen, C. W., Pettinato, R., Racher, H., Rinne, T., Romano, C., Sanders, V. R., Schnur, R. E., Smeets, E. J., Stegmann, A. P. A., Stray-Pedersen, A., Sweetser, D. A., Terhal, P. A., Tveten, K., VanNoy, G. E., de Vries, P. F., Waxler, J. L., Willing, M., Pfundt, R., Veltman, J. A., Kooy, R. F., Vissers, L. E. L. M. & de Vries, B. B. A., May 1 2019, In : European Journal of Human Genetics. 27, 5, p. 738-746 9 p.

Research output: Contribution to journalArticle

4 Scopus citations

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Gupta, A., Ewing, S. A., Renaud, D. L., Hasadsri, L., Raymond, K. M., Klee, E. W. & Gavrilova, R. M., Apr 1 2019, In : Clinical Case Reports. 7, 4, p. 632-637 6 p.

Research output: Contribution to journalArticle

Open Access

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype

Kaiwar, C., Kruisselbrink, T. M., Kudva, Y. C., Klee, E. W. & Pichurin, P., Oct 2019, In : Clinical Immunology. 207, p. 55-57 3 p.

Research output: Contribution to journalArticle

Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association

Camilleri, M., Wieben, E., Eckert, D., Carlson, P., Hurley O’Dwyer, R., Gibbons, D., Acosta, A. & Klee, E. W., Apr 2019, In : Neurogastroenterology and Motility. 31, 4, e13550.

Research output: Contribution to journalArticle

4 Scopus citations

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

the eMERGE Consortium, Sep 5 2019, In : American journal of human genetics. 105, 3, p. 588-605 18 p.

Research output: Contribution to journalArticle

2 Scopus citations

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Pant, D. C., Dorboz, I., Schluter, A., Fourcade, S., Launay, N., Joya, J., Aguilera-Albesa, S., Yoldi, M. E., Casasnovas, C., Willis, M. J., Ruiz, M., Ville, D., Lesca, G., Siquier-Pernet, K., Desguerre, I., Yan, H., Wang, J., Burmeister, M., Brady, L., Tarnopolsky, M. & 24 others, Cornet, C., Rubbini, D., Terriente, J., James, K. N., Musaev, D., Zaki, M. S., Patterson, M. C., Lanpher, B. C., Klee, E. W., E Vairo, F. P., Wohler, E., Sobreira, N. L. D. M., Cohen, J. S., Maroofian, R., Galehdari, H., Mazaheri, N., Shariati, G., Colleaux, L., Rodriguez, D., Gleeson, J. G., Pujades, C., Fatemi, A., Boespflug-Tanguy, O. & Pujol, A., Mar 2019, In : Journal of Clinical Investigation. 129, 3, p. 1240-1256 17 p.

Research output: Contribution to journalArticle

Open Access
9 Scopus citations

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

CAUSES Study & Deciphering Developmental Disorders Study, Mar 7 2019, In : American journal of human genetics. 104, 3, p. 530-541 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers

Zimmermann, M. T., Williams, M. M., Klee, E. W., Lomberk, G. A. & Urrutia, R., Jan 1 2019, In : Proteins: Structure, Function and Bioinformatics.

Research output: Contribution to journalArticle

Open Access

Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification

Gupta, A., Zimmermann, M. T., Wang, H., Broski, S. M., Sigafoos, A. N., Macklin, S. K., Urrutia, R. A., Clark, K. J., Atwal, P. S., Pignolo, R. J. & Klee, E. W., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

1 Scopus citations

Molecular modeling of LDLR aids interpretation of genomic variants

Klee, E. W. & Zimmermann, M. T., Jan 1 2019, In : Journal of Molecular Medicine.

Research output: Contribution to journalArticle

1 Scopus citations

Recommendations for performance optimizations when using GATK3.8 and GATK4

Heldenbrand, J. R., Baheti, S., Bockol, M. A., Drucker, T. M., Hart, S. N., Hudson, M. E., Iyer, R. K., Kalmbach, M. T., Kendig, K. I., Klee, E. W., Mattson, N. R., Wieben, E. D., Wiepert, M., Wildman, D. E. & Mainzer, L. S., Nov 8 2019, In : BMC bioinformatics. 20, 1, 557.

Research output: Contribution to journalArticle

Open Access

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

Cousin, M. A., Conboy, E., Wang, J. S., Lenz, D., Schwab, T. L., Williams, M., Abraham, R. S., Barnett, S., El-Youssef, M., Graham, R. P., Gutierrez Sanchez, L. H., Hasadsri, L., Hoffmann, G. F., Hull, N. C., Kopajtich, R., Kovacs-Nagy, R., Li, J. Q., Marx-Berger, D., McLin, V., McNiven, M. A. & 9 others, Mounajjed, T., Prokisch, H., Rymen, D., Schulze, R. J., Staufner, C., Yang, Y., Clark, K. J., Lanpher, B. C. & Klee, E. W., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 108-121 14 p.

Research output: Contribution to journalArticle

3 Scopus citations

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Oliver, G. R., Blackburn, P. R., Ellingson, M. S., Conboy, E., Pinto e Vairo, F., Webley, M., Thorland, E., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e00560.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

SentIeon DNaSeq variant calling workflow demonstrates strong computational performance and accuracy

Kendig, K. I., Baheti, S., Bockol, M. A., Drucker, T. M., Hart, S., Heldenbrand, J. R., Hernaez, M., Hudson, M. E., Kalmbach, M. T., Klee, E. W., Mattson, N. R., Ross, C. A., Taschuk, M., Wieben, E. D., Wiepert, M., Wildman, D. E. & Mainzer, L. S., Jan 1 2019, In : Frontiers in Genetics. 10, JUL, 736.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Blackburn, P. R., Zepeda-Mendoza, C. J., Kruisselbrink, T. M., Schimmenti, L. A., García-Miñaur, S., Palomares, M., Nevado, J., Mori, M. A., Le Meur, G., Klee, E. W., Le Caignec, C., Lapunzina, P., Isidor, B. & Babovic-Vuksanovic, D., Jan 1 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Variants in DOCK3 cause developmental delay and hypotonia

Wiltrout, K., Ferrer, A., van de Laar, I., Namekata, K., Harada, T., Klee, E. W., Zimmerman, M. T., Cousin, M. A., Kempainen, J. L., Babovic-Vuksanovic, D., van Slegtenhorst, M. A., Aarts-Tesselaar, C. D., Schnur, R. E., Andrews, M. & Shinawi, M., Aug 1 2019, In : European Journal of Human Genetics. 27, 8, p. 1225-1234 10 p.

Research output: Contribution to journalArticle

X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia

Blackburn, P. R., Lin, W. L., Miller, D. A., Lorenzo-Betancor, O., Edwards, E. S., Zimmermann, M. T., Farrugia, L. P., Freeman, W. D., Soto, A. I., Walton, R. L., Klee, E. W., Atwal, P. S., Abraham, R. S., Billadeau, D. D., Ross, O. A., Dickson, D. W. & Meschia, J. F., May 1 2019, In : Journal of neuropathology and experimental neurology. 78, 5, p. 460-466 7 p.

Research output: Contribution to journalArticle

2018

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis

Morales-Rosado, J. A., Kaiwar, C., Smith, B. E., Klee, E. W. & Dhamija, R., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Arterial tortuosity syndrome: 40 new families and literature review

Beyens, A., Albuisson, J., Boel, A., Al-Essa, M., Al-Manea, W., Bonnet, D., Bostan, O., Boute, O., Busa, T., Canham, N., Cil, E., Coucke, P. J., Cousin, M. A., Dasouki, M., De Backer, J., De Paepe, A., De Schepper, S., De Silva, D., Devriendt, K., De Wandele, I. & 44 others, Deyle, D. R., Dietz, H., Dupuis-Girod, S., Fontenot, E., Fischer-Zirnsak, B., Gezdirici, A., Ghoumid, J., Giuliano, F., Diéz, N. B., Haider, M. Z., Hardin, J. S., Jeunemaitre, X., Klee, E. W., Kornak, U., Landecho, M. F., Legrand, A., Loeys, B., Lyonnet, S., Michael, H., Moceri, P., Mohammed, S., Muiño-Mosquera, L., Nampoothiri, S., Pichler, K., Prescott, K., Rajeb, A., Ramos-Arroyo, M., Rossi, M., Salih, M., Seidahmed, M. Z., Schaefer, E., Steichen-Gersdorf, E., Temel, S., Uysal, F., Vanhomwegen, M., Van Laer, L., Van Maldergem, L., Warner, D., Willaert, A., Collins, T. R., Taylor, A., Davis, E. C., Zarate, Y. & Callewaert, B., Oct 1 2018, In : Genetics in Medicine. 20, 10, p. 1236-1245 10 p.

Research output: Contribution to journalArticle

14 Scopus citations

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Blackburn, P. R., Xu, Z., Tumelty, K. E., Zhao, R. W., Monis, W. J., Harris, K. G., Gass, J. M., Cousin, M. A., Boczek, N. J., Mitkov, M. V., Cappel, M. A., Francomano, C. A., Parisi, J. E., Klee, E. W., Faqeih, E., Alkuraya, F. S., Layne, M. D., McDonnell, N. B. & Atwal, P. S., Apr 5 2018, In : American Journal of Human Genetics. 102, 4, p. 696-705 10 p.

Research output: Contribution to journalArticle

23 Scopus citations

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Boczek, N. J., Hopp, K., Benoit, L., Kraft, D., Cousin, M. A., Blackburn, P. R., Madsen, C. D., Oliver, G. R., Nair, A. A., Na, J., Bianchi, D. W., Beek, G., Harris, P. C., Pichurin, P. & Klee, E. W., Jan 1 2018, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

5 Scopus citations

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes

Mangaonkar, A. A., Ferrer, A., Pinto e Vairo, F., Cousin, M. A., Kuisle, R. J., Klee, E. W., Kennedy, C. C., Peters, S. G., Scott, J. P., Utz, J. P., Baqir, M., Sekiguchi, H., Khan, S. P., Rodriguez, V., Simonetto, D. A., Kamath, P. S., Abraham, R. S., Wylam, M. E. & Patnaik, M. M., Jul 2018, In : Mayo Clinic proceedings. 93, 7, p. 834-839 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Comparative analysis of de novo assemblers for variation discovery in personal genomes

Tian, S., Yan, H. D., Klee, E. W., Kalmbach, M. & Slager, S. L., Sep 28 2018, In : Briefings in Bioinformatics. 19, 5, p. 893-904 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Polonis, K., Blackburn, P. R., Urrutia, R. A., Lomberk, G. A., Kruisselbrink, T., Cousin, M. A., Boczek, N. J., Hoppman, N. L., Babovic-Vuksanovic, D., Klee, E. W. & Pichurin, P. N., Aug 1 2018, In : Cold Spring Harbor molecular case studies. 4, 4

Research output: Contribution to journalArticle

3 Scopus citations

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deciphering Developmental Disorders Study, Nov 1 2018, In : American journal of human genetics. 103, 5, p. 666-678 13 p.

Research output: Contribution to journalArticle

12 Scopus citations

Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors

Winters, J. L., Davila, J. I., McDonald, A. M., Nair, A. A., Fadra, N., Wehrs, R. N., Thomas, B. C., Balcom, J. R., Jin, L., Wu, X., Voss, J. S., Klee, E. W., Oliver, G. R., Graham, R., Neff, J. L., Rumilla, K. M., Aypar, U., Kipp, B. R., Jenkins, R. B., Jen, J. & 1 others, Halling, K. C., Jul 1 2018, In : Journal of Molecular Diagnostics. 20, 4, p. 495-511 17 p.

Research output: Contribution to journalArticle

7 Scopus citations

Diagnosis of attenuated mucopolysaccharidosis VI: Clinical, biochemical, and genetic pitfalls

E Vairo, F. P., Conboy, E., De Souza, C. F. M., Jones, A., Barnett, S. S., Klee, E. W. & Lanpher, B. C., Dec 2018, In : Pediatrics. 142, 6, e20180658.

Research output: Contribution to journalArticle

Distinct epigenetic landscapes underlie the pathobiology of pancreatic cancer subtypes

Lomberk, G., Blum, Y., Nicolle, R., Nair, A., Gaonkar, K. S., Marisa, L., Mathison, A., Sun, Z., Yan, H., Elarouci, N., Armenoult, L., Ayadi, M., Ordog, T., Lee, J. H., Oliver, G., Klee, E., Moutardier, V., Gayet, O., Bian, B., Duconseil, P. & 13 others, Gilabert, M., Bigonnet, M., Garcia, S., Turrini, O., Delpero, J. R., Giovannini, M., Grandval, P., Gasmi, M., Secq, V., De Reyniès, A., Dusetti, N., Iovanna, J. & Urrutia, R., Dec 1 2018, In : Nature communications. 9, 1, 1978.

Research output: Contribution to journalArticle

33 Scopus citations

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Blackburn, P. R., Chacon-Camacho, O. F., Ortiz-González, X. R., Reyes, M., Lopez-Uriarte, G. A., Zarei, S., Bhoj, E. J., Perez-Solorzano, S., Vaubel, R. A., Murphree, M. I., Nava, J., Cortes-Gonzalez, V., Parisi, J. E., Villanueva-Mendoza, C., Tirado-Torres, I. G., Li, D., Klee, E. W., Pichurin, P. N. & Zenteno, J. C., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

1 Scopus citations

Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models

Larson, N., Wang, C., Na, J., Rowsey, R. A., Highsmith, W. E. J., Hoppman, N. L., Kocher, J-P. & Klee, E. W., Sep 1 2018, In : Journal of Computational Biology. 25, 9, p. 1040-1049 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

The DDD Study, Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

4 Scopus citations
3 Scopus citations

PCNT point mutations and familial intracranial aneurysms

Lorenzo-Betancor, O., Blackburn, P. R., Edwards, E., Vázquez-do-Campo, R., Klee, E. W., Labbé, C., Hodges, K., Glover, P., Sigafoos, A. N., Soto, A. I., Walton, R. L., Doxsey, S., Bober, M. B., Jennings, S., Clark, K. J., Asmann, Y., Miller, D., Freeman, W. D., Meschia, J. F. & Ross, O. A., Dec 4 2018, In : Neurology. 91, 23, p. e2170-e2181

Research output: Contribution to journalArticle

4 Scopus citations

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

Richter, J. E., Zimmermann, M. T., Blackburn, P. R., Mohammad, A. N., Klee, E. W., Pollard, L. M., Macmurdo, C. F., Atwal, P. S. & Caulfield, T., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journalArticle

2 Scopus citations

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

Cousin, M. A., Smith, M. J., Sigafoos, A. N., Jin, J. J., Murphree, M. I., Boczek, N. J., Blackburn, P. R., Oliver, G. R., Aleff, R. A., Clark, K. J., Wieben, E. D., Joshi, A. Y., Pichurin, P. N., Abraham, R. S. & Klee, E. W., Apr 18 2018, (Accepted/In press) In : Journal of Clinical Immunology. p. 1-13 13 p.

Research output: Contribution to journalArticle

9 Scopus citations
2017

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

Blackburn, P. R., Williams, M., Cousin, M. A., Boczek, N. J., Beek, G. J., Lomberk, G. A., Urrutia, R. A., Babovic-Vuksanovic, D. & Klee, E. W., Jan 1 2017, In : Molecular Genetics and Genomic Medicine. 5, 2, p. 141-146 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

A novel Kleefstra syndrome-associated variant that affects the conserved TPLX motif within the ankyrin repeat of EHMT1 leads to abnormal protein folding

Blackburn, P. R., Tischer, A., Zimmermann, M. T., Kemppainen, J. L., Sastry, S., Knight Johnson, A. E., Cousin, M. A., Boczek, N. J., Oliver, G., Misra, V. K., Gavrilova, R. M., Lomberk, G., Auton, M. T., Urrutia, R. & Klee, E. W., Mar 3 2017, In : Journal of Biological Chemistry. 292, 9, p. 3866-3876 11 p.

Research output: Contribution to journalArticle

3 Scopus citations

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., Gorman, K., King, M. D., Allen, N. M., Conroy, J., Ben Zeev, B., Tzadok, M., Korff, C., Dubois, F., Ramsey, K., Narayanan, V. & 23 others, Serratosa, J. M., Giraldez, B. G., Helbig, I., Marsh, E., O'Brien, M., Bergqvist, C. A., Binelli, A., Porter, B., Zaeyen, E., Horovitz, D. D., Wolff, M., Marjanovic, D., Caglayan, H. S., Arslan, M., Pena, S. D. J., Sisodiya, S. M., Balestrini, S., Syrbe, S., Veggiotti, P., Lemke, J. R., Møller, R. S., Lerche, H. & Rubboli, G., Sep 1 2017, In : Brain. 140, 9, p. 2337-2354 18 p.

Research output: Contribution to journalArticle

26 Scopus citations

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Lu, H. C., Tan, Q., Rousseaux, M. W. C., Wang, W., Kim, J. Y., Richman, R., Wan, Y. W., Yeh, S. Y., Patel, J. M., Liu, X., Lin, T., Lee, Y., Fryer, J. D., Han, J., Chahrour, M., Finnell, R. H., Lei, Y., Zurita-Jimenez, M. E., Ahimaz, P., Anyane-Yeboa, K. & 17 others, Van Maldergem, L., Lehalle, D., Jean-Marcais, N., Mosca-Boidron, A. L., Thevenon, J., Cousin, M. A., Bro, D. E., Lanpher, B., Klee, E. W., Alexander, N., Bainbridge, M. N., Orr, H. T., Sillitoe, R. V., Ljungberg, M. C., Liu, Z., Schaaf, C. P. & Zoghbi, H. Y., Mar 30 2017, In : Nature Genetics. 49, 4, p. 527-536 10 p.

Research output: Contribution to journalArticle

38 Scopus citations

Early-onset limb-girdle muscular dystrophy-2L in a female athlete

Blackburn, P. R., Selcen, D., Jackson, J. L., Guthrie, K. J., Cousin, M. A., Boczek, N. J., Clift, K. E., Klee, E. W., Dimberg, E. L. & Atwal, P. S., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

3 Scopus citations

Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery

Bryce, A. H., Egan, J. B., Borad, M. J., Keith Stewart, A., Nowakowski, G. S., Chanan-Khan, A., Patnaik, M. M., Ansell, S. M., Banck, M. S., Robinson, S. I., Mansfield, A. S., Klee, E. W., Oliver, G. R., McCormick, J. B., Huneke, N. E., Tagtow, C. M., Jenkins, R. B., Rumilla, K. M., Kerr, S. E., Kocher, J. P. A. & 5 others, Beck, S. A., Fernandez-Zapico, M. E., Farrugia, G., Lazaridis, K. N. & McWilliams, R. R., Jan 1 2017, In : Oncotarget. 8, 16, p. 27145-27154 10 p.

Research output: Contribution to journalArticle

18 Scopus citations