• 2658 Citations
  • 30 Scopus h-Index
20012020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

2020

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations

Kotwal, A., Ferrer, A., Kumar, R., Singh, R. J., Murthy, V., Schultz-Rogers, L., Zimmermann, M., Lanpher, B., Zimmerman, K., Stabach, P. R., Klee, E., Braddock, D. T. & Wermers, R. A., Apr 1 2020, In : Journal of Bone and Mineral Research. 35, 4, p. 662-670 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research

Oliver, G. R., Jenkinson, G. & Klee, E. W., Feb 28 2020, In : Frontiers in Genetics. 11, 173.

Research output: Contribution to journalArticle

Open Access

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity

Blackburn, P. R., Sullivan, A. E., Gerassimou, A. G., Kleinendorst, L., Bersten, D. C., Cooiman, M., Harris, K. G., Wierenga, K. J., Klee, E. W., van Gerpen, J. A., Ross, O. A., van Haelst, M. M., Whitelaw, M. L., Caulfield, T. R. & Atwal, P. S., Jan 1 2020, In : The Journal of clinical endocrinology and metabolism. 105, 1

Research output: Contribution to journalArticle

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism

Gupta, A., Dsouza, N. R., Zarate, Y. A., Lombardo, R., Hopkin, R., Linehan, A. R., Simpson, J., McCarrier, J., Agre, K. E., Gavrilova, R. H., Stephens, M. C., Grothe, R. M., Monaghan, K. G., Xie, Y., Basel, D., Urrutia, R. A., Cole, C. R., Klee, E. W. & Zimmermann, M. T., Apr 2020, In : European Journal of Medical Genetics. 63, 4, 103817.

Research output: Contribution to journalArticle

Genomic and phenotypic characterization of a broad panel of patient-derived xenografts reflects the diversity of glioblastoma

Vaubel, R. A., Tian, S., Remonde, D., Schroeder, M. A., Mladek, A. C., Kitange, G. J., Caron, A., Kollmeyer, T. M., Grove, R., Peng, S., Carlson, B. L., Ma, D. J., Sarkar, G., Evers, L., Decker, P. A., Yan, H., Dhruv, H. D., Berens, M. E., Wang, Q., Marin, B. M. & 14 others, Klee, E. W., Califano, A., LaChance, D. H., Eckel-Passow, J. E., Verhaak, R. G., Sulman, E. P., Burns, T. C., Meyer, F. B., O'Neill, B. P., Tran, N. L., Giannini, C., Jenkins, R. B., Parney, I. F. & Sarkaria, J. N., Mar 1 2020, In : Clinical Cancer Research. 26, 5, p. 1094-1104 11 p.

Research output: Contribution to journalArticle

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

Slavotinek, A., van Hagen, J. M., Kalsner, L., Pai, S., Davis-Keppen, L., Ohden, L., Weber, Y. G., Macke, E. L., Klee, E. W., Morava, E., Gunderson, L., Person, R., Liu, S. & Weiss, M., Apr 2020, In : European Journal of Medical Genetics. 63, 4, 103850.

Research output: Contribution to journalArticle

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T. T., Eio, M. Y., Narayanan, G., Utami, K. H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H. M., Gunay-Aygun, M., Muriello, M. J., Verhelst, H., Weckhuysen, S. & 65 others, Mahida, S., Naidu, S., Thomas, T. G., Lim, J. Y., Tan, E. S., Haye, D., Willemsen, M. A. A. P., Oegema, R., Mitchell, W. G., Pierson, T. M., Andrews, M. V., Willing, M. C., Rodan, L. H., Barakat, T. S., van Slegtenhorst, M., Gavrilova, R. H., Martinelli, D., Gilboa, T., Tamim, A. M., Hashem, M. O., AlSayed, M. D., Abdulrahim, M. M., Al-Owain, M., Awaji, A., Mahmoud, A. A. H., Faqeih, E. A., Asmari, A. A., Algain, S. M., Jad, L. A., Aldhalaan, H. M., Helbig, I., Koolen, D. A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A. Y. J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L. E., Klee, E. W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M. A., Stewart, J. C., Claridge-Chang, A., Lefeber, D. J., Alkuraya, F. S., Mathuru, A. S., Venkatesh, B., Barycki, J. J., Simpson, M. A., Jamuar, S. S., Schöls, L. & Reversade, B., Dec 1 2020, In : Nature communications. 11, 1, 595.

Research output: Contribution to journalArticle

Open Access

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Lennox, A. L., Hoye, M. L., Jiang, R., Johnson-Kerner, B. L., Suit, L. A., Venkataramanan, S., Sheehan, C. J., Alsina, F. C., Fregeau, B., Aldinger, K. A., Moey, C., Lobach, I., Afenjar, A., Babovic-Vuksanovic, D., Bézieau, S., Blackburn, P. R., Bunt, J., Burglen, L., Campeau, P. M., Charles, P. & 34 others, Chung, B. H. Y., Cogné, B., Curry, C., D'Agostino, M. D., Di Donato, N., Faivre, L., Héron, D., Innes, A. M., Isidor, B., Keren, B., Kimball, A., Klee, E. W., Kuentz, P., Küry, S., Martin-Coignard, D., Mirzaa, G., Mignot, C., Miyake, N., Matsumoto, N., Fujita, A., Nava, C., Nizon, M., Rodriguez, D., Blok, L. S., Thauvin-Robinet, C., Thevenon, J., Vincent, M., Ziegler, A., Dobyns, W., Richards, L. J., Barkovich, A. J., Floor, S. N., Silver, D. L. & Sherr, E. H., May 6 2020, In : Neuron. 106, 3, p. 404-420.e8

Research output: Contribution to journalArticle

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease

Gilbert, M. A., Schultz-Rogers, L., Rajagopalan, R., Grochowski, C. M., Wilkins, B. J., Biswas, S., Conlin, L. K., Fiorino, K. N., Dhamija, R., Pack, M. A., Klee, E. W., Piccoli, D. A. & Spinner, N. B., May 1 2020, In : Human mutation. 41, 5, p. 973-982 10 p.

Research output: Contribution to journalArticle

SPECC1L regulates palate development downstream of IRF6

Hall, E. G., Wenger, L. W., Wilson, N. R., Undurty-Akella, S. S., Standley, J., Augustine-Akpan, E. A., Kousa, Y. A., Acevedo, D. S., Goering, J. P., Pitstick, L., Natsume, N., Paroya, S. M., Busch, T. D., Ito, M., Mori, A., Imura, H., Schultz-Rogers, L. E., Klee, E. W., Babovic-Vuksanovic, D., Kroc, S. A. & 8 others, Adeyemo, W. L., Eshete, M. A., Bjork, B. C., Suzuki, S., Murray, J. C., Schutte, B. C., Butali, A. & Saadi, I., Mar 27 2020, In : Human molecular genetics. 29, 5, p. 845-858 14 p.

Research output: Contribution to journalArticle

The Undiagnosed Diseases Network International: Five years and more!

Taruscio, D., Baynam, G., Cederroth, H., Groft, S. C., Klee, E. W., Kosaki, K., Lasko, P., Melegh, B., Riess, O., Salvatore, M. & Gahl, W. A., Apr 2020, In : Molecular genetics and metabolism. 129, 4, p. 243-254 12 p.

Research output: Contribution to journalArticle

2019

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type i

Zepeda-Mendoza, C. J., Cousin, M. A., Basu, S., Jenkinson, G., Oliver, G., Pittock, S. T., Baughn, L. B., Klee, E. W. & Babovic-Vuksanovic, D., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 6, a004655.

Research output: Contribution to journalArticle

Open Access

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

Correction: Arterial tortuosity syndrome: 40 new families and literature review (Genetics in Medicine, (2018), 20, 10, (1236-1245), 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., Aug 1 2019, In : Genetics in Medicine. 21, 8, p. 1894-1895 2 p.

Research output: Contribution to journalComment/debate

Correction to: Recommendations for performance optimizations when using GATK3.8 and GATK4 (BMC Bioinformatics (2019) 20 (557) DOI: 10.1186/s12859-019-3169-7)

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., Dec 17 2019, In : BMC bioinformatics. 20, 1, 722.

Research output: Contribution to journalComment/debate

Open Access

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

3 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

2 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

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy

Schultz-Rogers, L., Ferrer, A., Dsouza, N. R., Zimmermann, M. T., Smith, B. E., Klee, E. W. & Dhamija, R., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 6, a004309.

Research output: Contribution to journalArticle

Open Access

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. L., Howard, M. T., Viswanatha, D. S., Klee, E. W., Mangaonkar, A. A. & Patnaik, M. M., Apr 16 2019, In : Leukemia and Lymphoma. 60, 5, p. 1337-1339 3 p.

Research output: Contribution to journalLetter

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

Three rare disease diagnoses in one patient through exome sequencing

Ferrer, A., Schultz-Rogers, L., Kaiwar, C., Kemppainen, J. L., Klee, E. W. & Gavrilova, R. H., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 6, a004390.

Research output: Contribution to journalArticle

Open Access

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

24 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

4 Scopus citations