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1

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

Oleg Shchelochkov, Lee-Jun Wong, Aziz Shaibani, Marwan Shinawi

Journal:

Year:

2009

Language:

english

File:

PDF, 504 KB

english, 2009

2

Spectroscopic investigation of indole-3-acetic acid interaction with iron(III)

A.A Kamnev, A.G Shchelochkov, Yu.D Perfiliev, P.A Tarantilis, M.G Polissiou

Journal:

Journal of Molecular Structure

Year:

2001

Language:

english

File:

PDF, 142 KB

english, 2001

3

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Oleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, Sandra Peacock, Svetlana A Yatsenko, Chester W Brown, Ping Fang, Pawel Stankiewicz, Sau Wai Cheung

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 2.43 MB

english, 2008

4

114 Expanding clinical spectrum of RRM2B mutations to include MNGIE

Lee-Jun Wong, Aziz Shaibani, Oleg A. Shchelochkov, Shulin Zhang, Panagiotis Katsonis, Olivier Lichtarge, Marwan Shinawi

Journal:

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

5

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil Hanchard, Oleg A. Shchelochkov, Ellen Brundage, Eric Schmitt, Fangyuan Li, Lee-Jun Wong, Fernando Scaglia⁎

Journal:

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

6

3-Methylglutaconic aciduria type IV due to novel mutation in TMEM70

Oleg A. Shchelochkov⁎, Fangyuan Li, Jing Wang, Jeffrey A. Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia

Journal:

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

7

Clinical and environmental influences on metabolic biomarkers collected for newborn screening

Ryckman, Kelli K., Berberich, Stanton L., Shchelochkov, Oleg A., Cook, Daniel E., Murray, Jeffrey C.

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 316 KB

english, 2013

8

Requirement of argininosuccinate lyase for systemic nitric oxide production

Erez, Ayelet, Nagamani, Sandesh C S, Shchelochkov, Oleg A, Premkumar, Muralidhar H, Campeau, Philippe M, Chen, Yuqing, Garg, Harsha K, Li, Li, Mian, Asad, Bertin, Terry K, Black, Jennifer O, Zeng, Hen

Journal:

Nature Medicine

Year:

2011

Language:

english

File:

PDF, 991 KB

english, 2011

9

The Hissar–Alay and the Pamirs: Deep-Seated Structure, Geodynamic Model, and Experimental Evidence

Leonov, M. G., Rybin, A. K., Batalev, V. Yu., Matyukov, V. E., Shchelochkov, G. G.

Journal:

Year:

2018

Language:

english

File:

PDF, 2.34 MB

english, 2018

10

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Oleg A. Shchelochkov, Ankita Patel, George M. Weissenberger, A. Craig Chinault, Joanna Wiszniewska, Priscilla H. Fernandes, Christine Eng, Mary K. Kukolich, V. Reid Sutton

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 199 KB

english, 2008

11

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung-Hae Lee Kang

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 334 KB

english, 2009

12

Genomic and clinical characteristics of microduplications in chromosome 17

Oleg A. Shchelochkov, S.W. Cheung, J.R. Lupski

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 242 KB

english, 2010

13

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension

Manjunath Nimmakayalu, Heather Major, Val Sheffield, Donald H. Solomon, Richard J. Smith, Shivanand R. Patil, Oleg A. Shchelochkov

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 288 KB

english, 2011

14

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, Marwan Shinawi

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 905 KB

english, 2011

15

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

Andrew B. Cyr, Manjunath Nimmakayalu, Susannah Q. Longmuir, Shivanand R. Patil, Kim M. Keppler-Noreuil, Oleg A. Shchelochkov

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 377 KB

english, 2011

16

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Johannes Häberle, Oleg A. Shchelochkov, Jing Wang, Panagiotis Katsonis, Lynn Hall, Sara Reiss, Angela Eeds, Alecia Willis, Meeta Yadav, Samantha Summar, , the Urea Cycle Disorders Consortium,, Olivier

Journal:

Year:

2011

Language:

english

File:

PDF, 687 KB

english, 2011

17

Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis

Lakshmi Venkateswaran, Fernando Scaglia, Valerie McLin, Paula Hertel, Oleg A. Shchelochkov, Saul Karpen, Donald Mahoney Jr, Donald L. Yee

Journal:

Pediatric Blood & Cancer

Year:

2009

Language:

english

File:

PDF, 104 KB

english, 2009

18

Complexation of Indole-3-acetic Acid with Iron(III): Influence of Coordination on the π-Electronic System of the Ligand

Alexander A. Kamnev, Alexei G. Shchelochkov, Petros A. Tarantilis, Moschos G. Polissiou, Yurii D. Perfiliev

Journal:

Monatshefte für Chemie - Chemical Monthly

Year:

2001

Language:

english

File:

PDF, 89 KB

english, 2001

19

Increased LIS1 expression affects human and mouse brain development

Bi, Weimin, Sapir, Tamar, Shchelochkov, Oleg A, Zhang, Feng, Withers, Marjorie A, Hunter, Jill V, Levy, Talia, Shinder, Vera, Peiffer, Daniel A, Gunderson, Kevin L

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 1.25 MB

english, 2009

20

Intracontinental mountain building in Central Asia as inferred from satellite geodetic data

A. V. Zubovich, V. I. Makarov, S. I. Kuzikov, O. I. Mosienko, G. G. Shchelochkov

Journal:

Year:

2007

Language:

english

File:

PDF, 482 KB

english, 2007

21

Mössbauer spectroscopic evidence for iron(III) complexation and reduction in acidic aqueous solutions of indole-3-butyric acid

K. Kovács, A. A. Kamnev, A. G. Shchelochkov, E. Kuzmann, H. Medzihradszky-Schweiger, J. Mink, A. Vértes

Journal:

Journal of Radioanalytical and Nuclear Chemistry

Year:

2004

Language:

english

File:

PDF, 495 KB

english, 2004

22

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

Schaaf, Christian P, Boone, Philip M, Sampath, Srirangan, Williams, Charles, Bader, Patricia I, Mueller, Jennifer M, Shchelochkov, Oleg A, Brown, Chester W, Crawford, Heather P, Phalen, James A, Tarta

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 378 KB

english, 2012

23

Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism

Ayelet Erez, Oleg A. Shchelochkov, Sharon E. Plon, Fernando Scaglia, Brendan Lee

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 871 KB

english, 2011

24

Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

Sandesh C.S. Nagamani, Philippe M. Campeau, Oleg A. Shchelochkov, Muralidhar H. Premkumar, Kilian Guse, Nicola Brunetti-Pierri, Yuqing Chen, Qin Sun, Yaoping Tang, Donna Palmer, Anilkumar K. Reddy, Li

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

25

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

Oleg A. Shchelochkov, Fang-Yuan Li, Michael T. Geraghty, Renata C. Gallagher, Johan L. Van Hove, Uta Lichter-Konecki, Paul M. Fernhoff, Sara Copeland, Tyler Reimschisel, Stephen Cederbaum, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 1.43 MB

english, 2009

26

Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?

Nicola Brunetti-Pierri, Ayelet Erez, Oleg Shchelochkov, William Craigen, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 138 KB

english, 2009

27

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

Oleg A. Shchelochkov, Fang-Yuan Li, Jing Wang, Hongli Zhan, Jeffrey A. Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 184 KB

english, 2010

28

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control

Brendan Lee, William Rhead, George A. Diaz, Bruce F. Scharschmidt, Asad Mian, Oleg Shchelochkov, J.F. Marier, Martin Beliveau, Joseph Mauney, Klara Dickinson, Antonia Martinez, Sharron Gargosky, Masou

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 296 KB

english, 2010

29

Molecular characterization of CPS1 deletions by array CGH

Jing Wang, Oleg A. Shchelochkov, Hongli Zhan, Fangyuan Li, Li-Chieh Chen, Ellen K. Brundage, Amber N. Pursley, Eric S. Schmitt, Johannes Häberle, Lee-Jun C. Wong

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 471 KB

english, 2011

30

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil A. Hanchard, Oleg A. Shchelochkov, Angshumoy Roy, Joanna Wiszniewska, Jing Wang, Edwina J. Popek, Saul Karpen, Lee-Jun C. Wong, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.21 MB

english, 2011

31

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency

James M. Wilson, Oleg A. Shchelochkov, Renata C. Gallagher, Mark L. Batshaw

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 150 KB

english, 2012

32

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

Sandesh C.S. Nagamani, Oleg A. Shchelochkov, Mary A. Mullins, Susan Carter, Brendan C. Lanpher, Qin Sun, Soledad Kleppe, Ayelet Erez, E. O'Brian Smith, Juan C. Marini, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 476 KB

english, 2012

33

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

Nimmakayalu, Manjunath, Noble, Nathan, Horton, V. Kim, Willing, Marcia, Copeland, Sara, Sheffield, Val, Nagy, Peter L., Wassink, Tom, Patil, Shivanand, Shchelochkov, Oleg A.

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1005 KB

english, 2012

34

The ability of the rhizobacteriumAzospirillum brasilenseto reduce selenium(IV) to selenium(0)

A. V. Tugarova, E. P. Vetchinkina, E. A. Loshchinina, A. G. Shchelochkov…

Journal:

Year:

2013

Language:

english

File:

PDF, 498 KB

english, 2013

35

Signaling Pathways in Human Skeletal Dysplasias

Baldridge, Dustin, Shchelochkov, Oleg, Kelley,, Brian, Lee, Brendan

Journal:

Annual Review of Genomics and Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.17 MB

english, 2010

36

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Sreenath Nagamani, S C, Zhang, F, Shchelochkov, O A, Bi, W, Ou, Z, Scaglia, F, Probst, F J, Shinawi, M, Eng, C, Hunter, J V, Sparagana, S, Lagoe, E, Fong, C-T, Pearson, M, Doco-Fenzy, M, Landais, E, M

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 2.36 MB

english, 2009

37

The influence of maternal disease on metabolites measured as part of newborn screening

Ryckman, Kelli K., Shchelochkov, Oleg A., Cook, Daniel E., Berberich, Stanton L., Copeland, Sara, Dagle, John M., Murray, Jeffrey C.

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2013

Language:

english

File:

PDF, 181 KB

english, 2013

38

Assessment of barriers to drug adherence in the treatment of urea cycle disorders in North America

Shchelochkov, Oleg A., Lee, Brendan H., Scharschmidt, Bruce F., Dickinson, Klara A., Herberich, Ellen, Hawkins, Scott, Smith, Jasmin, Le Mons, Cynthia

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

39

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Wat, M. J., Veenma, D., Hogue, J., Holder, A. M., Yu, Z., Wat, J. J., Hanchard, N., Shchelochkov, O. A., Fernandes, C. J., Johnson, A., Lally, K. P., Slavotinek, A., Danhaive, O., Schaible, T., Cheung

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 444 KB

english, 2011

40

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

Nimmakayalu, Manjunath, Horton, V. Kim, Darbro, Ben, Patil, Shivanand R., Alsayouf, Hamza, Keppler-Noreuil, Kim, Shchelochkov, Oleg A.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 844 KB

english, 2013

41

Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns

Ryckman, Kelli K., Cook, Daniel E., Berberich, Stanton L., Shchelochkov, Oleg A., Berends, Susan K., Busch, Tamara, Dagle, John M., Murray, Jeffrey C.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2012

Language:

english

File:

PDF, 341 KB

english, 2012

42

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis

Tan, C.A., Topper, S., del Gaudio, D., Nelakuditi, V., Shchelochkov, O., Nowaczyk, M.J.M., Zeesman, S., Brady, L., Russell, L., Meeks, N., Sastry, S., Arndt, K., Kobiernicki, F., Shaw, R., Das, S.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 514 KB

english, 2015

43

Hyperammonemic syndrome after Roux-en-Y gastric bypass

Fenves, Andrew Z., Shchelochkov, Oleg A., Mehta, Ankit

Journal:

Year:

2015

Language:

english

File:

PDF, 120 KB

english, 2015

44

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Beck, T. F., Veenma, D., Shchelochkov, O. A., Yu, Z., Kim, B. J., Zaveri, H. P., van Bever, Y., Choi, S., Douben, H., Bertin, T. K., Patel, P. I., Lee, B., Tibboel, D., de Klein, A., Stockton, D. W.,

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 1.09 MB

english, 2013

45

Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy

Mendez-Figueroa, H, Shchelochkov, O A, Shaibani, A, Aagaard-Tillery, K, Shinawi, M S

Journal:

Journal of Perinatology

Year:

2010

Language:

english

File:

PDF, 211 KB

english, 2010

46

The heritability of metabolic profiles in newborn twins

Alul, F Y, Cook, D E, Shchelochkov, O A, Fleener, L G, Berberich, S L, Murray, J C, Ryckman, K K

Journal:

Year:

2013

Language:

english

File:

PDF, 736 KB

english, 2013

47

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 652 KB

english, 2015

48

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

Shaibani, Aziz, Shchelochkov, Oleg A., Zhang, Shulin, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun, Shinawi, Marwan

Journal:

Archives of Neurology

Year:

2009

Language:

english

File:

PDF, 303 KB

english, 2009

49

Genetic associations with neonatal thyroid-stimulating hormone levels

Alul, Farah Y., Shchelochkov, Oleg A., Berberich, Stanton L., Murray, Jeffrey C., Ryckman, Kelli K.

Journal:

Pediatric Research

Year:

2013

Language:

english

File:

PDF, 454 KB

english, 2013

50

Association of amino acids with common complications of prematurity

Ryckman, Kelli K., Dagle, John M., Shchelochkov, Oleg A., Ehinger, Noah, Poole, Stanley D., Berberich, Stanton L., Reese, Jeff, Murray, Jeffrey C.

Journal:

Pediatric Research

Year:

2013

Language:

english

File:

PDF, 513 KB

english, 2013

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