• 2463 Citations
  • 29 Scopus h-Index
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Research Output 2001 2019

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Article
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
Rare Diseases
Fusion reactions
prioritization
germ cells
RNA Sequence Analysis

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
Aurora Kinase B
Chromosomal Instability
Centromere
Mitosis
Serine

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

career
science
learning
education
medicine
1 Citation (Scopus)

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., Jan 1 2019, In : Mayo Clinic proceedings.

Research output: Contribution to journalArticle

Precision Medicine
Exome
Poisons
Hematopoietic Stem Cell Transplantation
Cell Lineage
1 Citation (Scopus)

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. M., 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
Epilepsy
Syntaxin 1
Febrile Seizures
Seizures
Phenotype

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

DDD Study, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Nervous System
Genes
Drosophila
RNA Sequence Analysis
Biological Phenomena
1 Citation (Scopus)
Intellectual Disability
Phenotype
DEAD-box RNA Helicases
Exome
Haploinsufficiency
4 Citations (Scopus)

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., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Intellectual Disability
Lip
Ubiquitin-Protein Ligase Complexes
Cullin Proteins
F-Box Proteins

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
Epilepsy
Megalencephaly
Heparitin Sulfate
Autistic Disorder
Genes

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 1 2019, In : Clinical Immunology. 207, p. 55-57 3 p.

Research output: Contribution to journalArticle

Exome
Hodgkin Disease
Phenotype
Lipomatosis
Immune System
2 Citations (Scopus)

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

Camilleri, M., Wieben, E. D., Eckert, D., Carlson, P., Hurley O’Dwyer, R., Gibbons, D., Acosta, A. & Klee, E. W., Jan 1 2019, (Accepted/In press) In : Neurogastroenterology and Motility. e13550.

Research output: Contribution to journalArticle

Megacolon
Genes
DNA
Dilatation
Colon
2 Citations (Scopus)

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

Genetic Testing
Clinical Decision Support Systems
Precision Medicine
Gene Targeting
Information Dissemination
8 Citations (Scopus)

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., 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 1 2019, In : Journal of Clinical Investigation. 129, 3, p. 1240-1256 17 p.

Research output: Contribution to journalArticle

Open Access
Ceramides
Zebrafish
Myelin Sheath
Exome
Leukoencephalopathies
2 Citations (Scopus)

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

Gene Components
Histone Acetyltransferases
Autistic Disorder
Intellectual Disability
Genetic Association Studies

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
Karyopherins
Post Translational Protein Processing
Mutation
Neoplasms
Phosphorylation

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

Myositis Ossificans
Diffuse Idiopathic Skeletal Hyperostosis
Ligaments
Osteogenesis
Phenotype
1 Citation (Scopus)

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

LDL Receptors
Hyperlipoproteinemia Type II
Genomics
Proteins
Genetic Testing

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
Performance Optimization
Recommendations
Genes
Cost effectiveness
Electric sparks
2 Citations (Scopus)

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

Acute Liver Failure
Liver
Autophagy
Fibroblasts
Transport Vesicles
1 Citation (Scopus)

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. C., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e00560.

Research output: Contribution to journalArticle

Open Access
Multiple Hereditary Exostoses
RNA
Comparative Genomic Hybridization
Exome
Multiplex Polymerase Chain Reaction
2 Citations (Scopus)

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
Workflow
Genome
Software

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

Microphthalmos
Brain
Bone Morphogenetic Protein 4
Dual (Psychiatry) Diagnosis
Phenotype

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., Jan 1 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Muscle Hypotonia
Cytokinesis
Exome
PDZ Domains
Guanine Nucleotide Exchange Factors

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

Multi-Infarct Dementia
Lymphoproliferative Disorders
Siblings
Central Nervous System Vasculitis
Exome
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

Learning Disorders
Myasthenia Gravis
Exome
Genes
Congenital Myasthenic Syndromes
10 Citations (Scopus)

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

Blood Vessels
Skin
Newborn Respiratory Distress Syndrome
Electron Microscopy
Diaphragmatic Hernia
22 Citations (Scopus)

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

Ehlers-Danlos Syndrome
Connective Tissue
Collagen
Carboxypeptidases
Skin
5 Citations (Scopus)

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

Exome
Orofaciodigital Syndromes
Pedigree
Phenotype
RNA Sequence Analysis
7 Citations (Scopus)

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., Peters, S. G., Scott, J. P., Utz, J. P., Baqir, M., Sekiguchi, H., Khan, S. P., Rodriguez, V., Simonetto, D., Kamath, P. S., Abraham, R. S., Wylam, M. & Patnaik, M. M., Jul 1 2018, In : Mayo Clinic Proceedings. 93, 7, p. 834-839 6 p.

Research output: Contribution to journalArticle

Telomere
Idiopathic Interstitial Pneumonias
Danazol
Transplants
Phenotype
2 Citations (Scopus)

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

Exome
Genes
Genome
Antigens
HLA Antigens
3 Citations (Scopus)

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

Methylation
Growth
Genes
Intellectual Disability
Sotos Syndrome

Correction to: Arterial tortuosity syndrome: 40 new families and literature review (GENETICS in MEDICINE, (2018), 10.1038/gim.2017.253)

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., Baena, N., 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., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Names
Arterial Tortuosity Syndrome
8 Citations (Scopus)

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

Megalencephaly
Dyskinesias
Brain Diseases
Contracture
S 6
6 Citations (Scopus)

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

RNA Sequence Analysis
Gene Fusion
Neoplasms
RNA
Investigational Therapies

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., Dec 1 2018, In : Pediatrics. 142, 6, e20180658.

Research output: Contribution to journalArticle

Mucopolysaccharidosis VI
Molecular Biology
Biochemical Phenomena
Pelvic Bones
Mucopolysaccharidosis I
26 Citations (Scopus)

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. D., Yan, H. D., Elarouci, N., Armenoult, L., Ayadi, M., Ordog, T., Lee, J. H., Oliver, G., Klee, E. W., 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

Pancreatic Neoplasms
Epigenomics
Adenocarcinoma
sequencing
cancer
1 Citation (Scopus)

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

Anophthalmos
Teratoma
Mutation
Esophageal Atresia
Pituitary Neoplasms
1 Citation (Scopus)

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

Bayesian Hierarchical Model
Single nucleotide Polymorphism
Nucleotides
Plasma Cells
Polymorphism
2 Citations (Scopus)

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

Social Media
Language Development Disorders
Microcephaly
Penetrance
Genetic Association Studies
1 Citation (Scopus)

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

Vairo, F. P. E., Ferrer, A., Cathcart-Rake, E., King, R., Howard, M. T., Viswanatha, D. S., Klee, E. W., Mangaonkar, A. A. & Patnaik, M. M., Jan 1 2018, (Accepted/In press) In : Leukemia and Lymphoma.

Research output: Contribution to journalArticle

Neoplasms
3 Citations (Scopus)

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

Intracranial Aneurysm
Subarachnoid Hemorrhage
Point Mutation
Intracranial Hemorrhages
Exome
Radiosurgery
Molecular Biology
Sarcoma
Acoustic Neuroma
Radiation
2 Citations (Scopus)

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

GM1 Gangliosidosis
Galactosidases
Molecular Dynamics Simulation
Proteins
Mucopolysaccharidosis IV
6 Citations (Scopus)

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

Exome
RNA
Ataxia Telangiectasia
Chromosomes, Human, Pair 11
DNA
2017
1 Citation (Scopus)

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

Fibroblasts
Exome
Haploinsufficiency
Microcephaly
Muscle Hypotonia
3 Citations (Scopus)

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

Ankyrin Repeat
Protein folding
Protein Folding
Histone Code
Intellectual Disability
22 Citations (Scopus)

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., Gavrilova, R. M., 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

Genetic Association Studies
Brain Diseases
Mutation
Epilepsy
Seizures
26 Citations (Scopus)

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

Phenotype
Mutation
Middle Hypothalamus
Attention Deficit Disorder with Hyperactivity
Interpersonal Relations
3 Citations (Scopus)

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

Limb-Girdle Muscular Dystrophies
Muscular Dystrophies
Athletes
Muscular Dystrophy, Limb-Girdle, Type 2L