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1

Artificial Intelligence Education: Editorial Introduction

Wollowski, Michael, Neller, Todd, Boerkoel, James

Journal:

Year:

2017

Language:

english

File:

PDF, 727 KB

english, 2017

2

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Hiroshi Takashima, Cornelius F. Boerkoel, Peter De Jonghe, Chantal Ceuterick, Jean-Jacques Martin, Thomas Voit, J.-Michael Schröder, Anna Williams, Peter J. Brophy, Vincent Timmerman, James R. Lupski

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 900 KB

english, 2002

3

Genetic defects in patients with glycogenosis type II (acid maltase deficiency)

Nina Raben, Ralph C. Nichols, Cornelius Boerkoel, Paul Plotz

Journal:

Year:

1995

Language:

english

File:

PDF, 443 KB

english, 1995

4

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Collin, Gayle B., Marshall, Jan D., Ikeda, Akihiro, So, W. Venus, Russell-Eggitt, Isabelle, Maffei, Pietro, Beck, Sebastian, Boerkoel, Cornelius F., Sicolo, Nicola, Martin, Mitchell, Nishina, Patsy M.

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 592 KB

english, 2002

5

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

Boerkoel, C. F., O'Neill, S., Andr&#x000E9, , J. L., Benke, P. J., Bogdanov&#x000ED, &#x00107, , R., Bulla, M., Burguet, A., Cockfield, S., Cordeiro, I., Ehrich, J. H. H.

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 181 KB

english, 2000

6

Elucidating the role of mitochondrial Tdp1 in response to oxidative stress

Fam, Hok Khim, Chowdhury, Miraj K., Walton, Cheryl, Choi, Kunho, Hendson, Glenda, Boerkoel, Cornelius F.

Journal:

Year:

2013

Language:

english

File:

PDF, 52 KB

english, 2013

7

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E, Boerkoel, Cornelius F

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 314 KB

english, 2014

8

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation

Elizondo, L I, Cho, K S, Zhang, W, Yan, J, Huang, C, Huang, Y, Choi, K, Sloan, E A, Deguchi, K, Lou, S, Baradaran-Heravi, A, Takashima, H, Lucke, T, Quiocho, F A, Boerkoel, C F

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 4.44 MB

english, 2008

9

The Human Phenotype Ontology in 2017

Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Busk

Journal:

Nucleic Acids Research

Year:

2017

Language:

english

File:

PDF, 841 KB

english, 2017

10

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon

Boerkoel, Cornelius F., Nowaczyk, Malgorzata J.M., Blaser, Susan I., Meschino, Wendy S., Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 212 KB

english, 1998

11

Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia

Doris Taha, Cornelius F. Boerkoel, John Williamson Balfe, Mohammed Khalifah, Emily A. Sloan, Maha Barbar, Abdulrazzaq Haider, Hassan Kanaan

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 389 KB

english, 2004

12

Schimke-immuno-osseous dysplasia: New mutation with weak genotype–phenotype correlation in siblings

Thomas Lücke, Heiko Billing, Emily A. Sloan, Cornelius F. Boerkoel, Doris Franke, Miriam Zimmering, Jochen H.H. Ehrich, Anibh M. Das

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 116 KB

english, 2005

13

Schimke immuno-osseous dysplasia: A cell autonomous disorder?

Leah I. Elizondo, Cheng Huang, Jennifer L. Northrop, Kimiko Deguchi, Johanna M. Clewing, Dawna L. Armstrong, Cornelius F. Boerkoel

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 472 KB

english, 2006

14

A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features

P.A. Lennon, C.F. Boerkoel, K. Plunkett, S. Soukam, S.W. Cheung, A. Patel

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 199 KB

english, 2006

15

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: A complication of hyperemesis gravidarum induced vitamin K deficiency?

Nicola Brunetti-Pierri, Jill V. Hunter, Cornelius F. Boerkoel

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

16

Cerebellar atrophy in Schimke-immuno-osseous dysplasia

Thomas Lücke, Johanna M. Clewing, Cornelius F. Boerkoel, Hans Hartmann, Anibh M. Das, Michael Knauth, Hartmut Becker, Frank Donnerstag

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 228 KB

english, 2007

17

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia

Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F. Boerkoel, Ilkka Kaitila

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 59 KB

english, 2008

18

A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders

Christèle du Souich, Jehannine C. Austin, Robin Friedlander, Cornelius F. Boerkoel

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 584 KB

english, 2009

19

Methylation profiling in individuals with Russell–Silver syndrome

Maria S. Peñaherrera, Susanne Weindler, Margot I. Van Allen, Siu-Li Yong, Daniel L. Metzger, Barbara McGillivray, Cornelius Boerkoel, Sylvie Langlois, Wendy P. Robinson

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 301 KB

english, 2010

20

Minimal genotype–phenotype correlation for small deletions within distal 1p36

A. Buck, C. du Souich, Cornelius F. Boerkoel

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.47 MB

english, 2011

21

Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Garcia, Richard K. Olney, John Johnson, Katherine Berry, Paul Russo, Shelley Kennedy, Ahmad S. Teebi, Mena Scavina, Lowell L. Williams, Pedro Mancia

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

22

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation

Ken Inoue, Konstantin Shilo, Cornelius F. Boerkoel, Carol Crowe, Joram Sawady, James R. Lupski, Dimitri P. Agamanolis

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 202 KB

english, 2002

23

CMT4A: Identification of a Hispanic GDAP1 founder mutation

Cornelius F. Boerkoel, Hiroshi Takashima, Masanori Nakagawa, Shuji Izumo, Dawna Armstrong, Ian Butler, Pedro Mancias, Sozos C. H. Papasozomenos, Lawrence Z. Stern, James R. Lupski

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 479 KB

english, 2003

24

Detecting false-positive signals in exome sequencing

Karin V. Fuentes Fajardo, David Adams, NISC Comparative Sequencing Program, Christopher E. Mason, Murat Sincan, Cynthia Tifft, Camilo Toro, Cornelius F Boerkoel, William Gahl, Thomas Markello

Journal:

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

25

VAR-MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

Murat Sincan, Dimitre R Simeonov, David Adams, Thomas C. Markello, Tyler M. Pierson, Camilo Toro, William A. Gahl, Cornelius F. Boerkoel

Journal:

Year:

2012

Language:

english

File:

PDF, 318 KB

english, 2012

26

Analysis of DNA sequence variants detected by high-throughput sequencing

David R. Adams, Murat Sincan, Karin Fuentes Fajardo, James C. Mullikin, Tyler M. Pierson, Camilo Toro, Cornelius F. Boerkoel, Cynthia J. Tifft, William A. Gahl, Tom C. Markello

Journal:

Year:

2012

Language:

english

File:

PDF, 258 KB

english, 2012

27

Alström syndrome: further evidence for linkage to human chromosome 2p13

G.B. Collin, J.D. Marshall, C.F. Boerkoel, A.V. Levin, R. Weksberg, J. Greenberg, J.L. Michaud, J.K. Naggert, P.M. Nishina

Journal:

Year:

1999

Language:

english

File:

PDF, 103 KB

english, 1999

28

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

Alessandra Bolino, Lorne J. Lonie, Michael Zimmer, Cornelius F. Boerkoel, Hiroshi Takashima, Anthony P. Monaco, James R. Lupski

Journal:

Year:

2001

Language:

english

File:

PDF, 30 KB

english, 2001

29

EGR2mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Bacino, Donna Daentl, James R. Lupski

Journal:

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

30

Expression profile of NSDHL in human peripheral tissues

Marie Morimoto, Christèle du Souich, Joanne Trinh, Keith W. McLarren, Cornelius F. Boerkoel, Glenda Hendson

Journal:

Journal of Molecular Histology

Year:

2012

Language:

english

File:

PDF, 10.41 MB

english, 2012

31

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy

Cornelius F. Boerkoel, Hiroshi Takashima, James R. Lupski

Journal:

Current Neurology and Neuroscience Reports

Year:

2002

Language:

english

File:

PDF, 685 KB

english, 2002

32

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature

A Chou, C Boerkoel, C Du Souich, R Rupps

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 493 KB

english, 2009

33

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

AM Lehman, C du Souich, D Chai, P Eydoux, JL Huang, AK Fok, L Avila, J Swingland, AD Delaney, B McGillivray, D Goldowitz, B Argiropoulos, MS Kobor, CF Boerkoel

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 1010 KB

english, 2012

34

Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia

Thomas Lücke, Nele Kanzelmeyer, Alireza Baradaran-Heravi, Cornelius F. Boerkoel, Michael Burg, Jochen H. H. Ehrich, Lars Pape

Journal:

Pediatric Transplantation

Year:

2009

Language:

english

File:

PDF, 292 KB

english, 2009

35

Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

C. F. BOERKOEL, K. INOUE, L. T. REITER, L. E. WARNER, J. R. LUPSKI

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 4.14 MB

1999

36

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Boerkoel, Cornelius F., Takashima, Hiroshi, John, Joy, Yan, Jiong, Stankiewicz, Pawel, Rosenbarker, Lisa, André, Jean-Luc, Bogdanovic, Radovan, Burguet, Antoine, Cockfield, Sandra

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 484 KB

english, 2002

37

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Takashima, Hiroshi, Boerkoel, Cornelius F., John, Joy, Saifi, Gulam Mustafa, Salih, Mustafa A.M., Armstrong, Dawna, Mao, Yuxin, Quiocho, Florante A., Roa, Benjamin B., Nakagawa, Masanori

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 1.16 MB

english, 2002

38

Frequent monoallelic loss of D13S319 in multiple myeloma patients shown by interphase fluorescence in situ hybridization

Chang, H, Bouman, D, Boerkoel, CF, Stewart, AK, Squire, JA

Journal:

Year:

1999

Language:

english

File:

PDF, 213 KB

english, 1999

39

A New Defective Retroviral Vector System Based on the Bryan Strain of Rous Sarcoma Virus

Cornelius F. Boerkoel, Mark J. Federspiel, Donald W. Salter, William Payne, Lyman B. Crittenden, Hsing-Jien Kung, Stephen H. Hughes

Journal:

Year:

1993

File:

PDF, 745 KB

1993

40

Lethal neonatal Menkes' disease with severe vasculopathy and fractures

RP Jankov, CF Boerkoel, J Hellmann, WL Sirkin, Z Tumer, N Horn, A Feigenbaum

Journal:

Acta Paediatrica

Year:

1998

Language:

english

File:

PDF, 224 KB

english, 1998

41

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

JM Friedman, Shelin Adam, Laura Arbour, Linlea Armstrong, Agnes Baross, Patricia Birch, Cornelius Boerkoel, Susanna Chan, David Chai, Allen D Delaney, Stephane Flibotte, William T Gibson, Sylvie Langl

Journal:

Year:

2009

Language:

english

File:

PDF, 626 KB

english, 2009

42

Human isoleucyl-tRNA synthetase: Sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension

Ralph C. Nichols, Nina Raben, Cornelius F. Boerkoel, Paul H. Plotz

Journal:

Year:

1995

Language:

english

File:

PDF, 605 KB

english, 1995

43

Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance

Cherry Mammen, Rosemarie Rupps, Peter Trnka, Cornelius F. Boerkoel

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 299 KB

english, 2012

44

Advances in chromatin remodeling and human disease

Kyoung Sang Cho, Leah I Elizondo, Cornelius F Boerkoel

Journal:

Current Opinion in Genetics & Development

Year:

2004

Language:

english

File:

PDF, 1.24 MB

english, 2004

45

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa1H/+ mouse

David Cunningham, Kaitlyn Spychala, Keith W. McLarren, Luis A. Garza, Cornelius F. Boerkoel, Gail E. Herman

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 1.04 MB

english, 2009

46

Chromatin remodeling and human disease

Cheng Huang, Emily A Sloan, Cornelius F Boerkoel

Journal:

Current Opinion in Genetics & Development

Year:

2003

Language:

english

File:

PDF, 128 KB

english, 2003

47

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

Cornelius F. Boerkoel, Hiroshi Takashima, Pawel Stankiewicz, Carlos A. Garcia, Steven M. Leber, Laila Rhee-Morris, James R. Lupski

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 860 KB

english, 2001

48

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Pierson, T. M., Adams, D. A., Markello, T., Golas, G., Yang, S., Sincan, M., Simeonov, D. R., Fuentes Fajardo, K., Hansen, N. F., Cherukuri, P. F., Cruz, P., Teer, J. K., Mullikin, J. C., Boerkoel, C.

Journal:

Year:

2012

Language:

english

File:

PDF, 376 KB

english, 2012

49

Alström syndrome: further evidence for linkage to human chromosome 2p13

G.B. Collin,J.D. Marshall,C.F. Boerkoel,A.V. Levin,R. Weksberg…

Journal:

Year:

1999

Language:

english

File:

PDF, 103 KB

english, 1999

50

Using hybrid scheduling for the semi-autonomous formation of expert teams

Durfee, Edmund H., Boerkoel, James C., Sleight, Jason

Journal:

Future Generation Computer Systems

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

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