Oleg A Shchelochkov

Oleg A Shchelochkov

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Oleg A Shchelochkov

Oleg A Shchelochkov

Publications by authors named "Oleg A Shchelochkov"

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42Publications

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Chronic kidney disease in propionic acidemia.

Genet Med 2019 Jun 28. Epub 2019 Jun 28.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41436-019-0593-zDOI Listing
June 2019

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Am J Hum Genet 2018 08;103(2):276-287

Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080833PMC
August 2018

Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.

J Clin Res Pediatr Endocrinol 2017 Mar 31;9(1):70-73. Epub 2016 Oct 31.

The Children's Hospital of Philadelphia, Division of Neonatal and Perinatal Medicine, Philadelphia, USA Phone: +1 319 855-9093 E-mail:

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http://cms.galenos.com.tr/Uploads/Article_15638/70-73.pdf
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http://dx.doi.org/10.4274/jcrpe.3680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363168PMC
March 2017

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

Genet Med 2016 Apr 13;18(4):386-95. Epub 2015 Aug 13.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/gim2015102
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http://dx.doi.org/10.1038/gim.2015.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752925PMC
April 2016

Response to Cunningham et al.

Genet Med 2016 Apr 10;18(4):414-5. Epub 2016 Mar 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586539PMC
April 2016

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

Am J Med Genet A 2015 Oct 8;167A(10):2459-62. Epub 2015 Jun 8.

Department of Dermatology, University of Iowa Hospitals and Clinics.

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http://dx.doi.org/10.1002/ajmg.a.37176DOI Listing
October 2015

Hyperammonemic syndrome after Roux-en-Y gastric bypass.

Obesity (Silver Spring) 2015 Apr 7;23(4):746-9. Epub 2015 Mar 7.

Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://doi.wiley.com/10.1002/oby.21037
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http://dx.doi.org/10.1002/oby.21037DOI Listing
April 2015

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

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

J Matern Fetal Neonatal Med 2013 Sep 2;26(14):1380-3. Epub 2013 May 2.

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.3109/14767058.2013.791267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753672PMC
September 2013

Association of amino acids with common complications of prematurity.

Pediatr Res 2013 Jun 12;73(6):700-5. Epub 2013 Mar 12.

Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1038/pr.2013.43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660469PMC
June 2013

Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.

Am J Med Genet A 2013 May 13;161A(5):1105-9. Epub 2013 Mar 13.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.35790DOI Listing
May 2013

Genetic associations with neonatal thyroid-stimulating hormone levels.

Pediatr Res 2013 Apr 23;73(4 Pt 1):484-91. Epub 2013 Jan 23.

Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1038/pr.2013.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3775497PMC
April 2013

Clinical and environmental influences on metabolic biomarkers collected for newborn screening.

Clin Biochem 2013 Jan 23;46(1-2):133-8. Epub 2012 Sep 23.

Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2012.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534803PMC
January 2013

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

Am J Med Genet A 2012 Nov 28;158A(11):2767-74. Epub 2012 Sep 28.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.35362DOI Listing
November 2012

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.

Mol Genet Metab 2012 Feb 7;105(2):263-5. Epub 2011 Nov 7.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.10.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3273986PMC
February 2012

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

Am J Med Genet A 2011 Sep 3;155A(9):2224-8. Epub 2011 Aug 3.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/ajmg.a.34120DOI Listing
September 2011

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Mol Genet Metab 2011 Jul 11;103(3):262-7. Epub 2011 Mar 11.

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.03.006DOI Listing
July 2011

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Am J Hum Genet 2011 Apr;88(4):402-21

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071916PMC
April 2011

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

Am J Med Genet A 2011 Feb 13;155A(2):418-23. Epub 2011 Jan 13.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33827
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http://dx.doi.org/10.1002/ajmg.a.33827DOI Listing
February 2011

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

Mol Genet Metab 2010 Oct-Nov;101(2-3):282-5. Epub 2010 Jul 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX, United States.

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http://dx.doi.org/10.1016/j.ymgme.2010.07.012DOI Listing
January 2011

Molecular characterization of CPS1 deletions by array CGH.

Mol Genet Metab 2011 Jan 19;102(1):103-6. Epub 2010 Sep 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869965PMC
January 2011

Genomic and clinical characteristics of microduplications in chromosome 17.

Am J Med Genet A 2010 May;152A(5):1101-10

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77050, USA.

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http://dx.doi.org/10.1002/ajmg.a.33248DOI Listing
May 2010

Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis.

Pediatr Blood Cancer 2009 Jul;53(1):100-2

Department of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030-2399, USA.

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http://dx.doi.org/10.1002/pbc.22016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869977PMC
July 2009

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

Am J Med Genet A 2008 Apr;146A(8):1042-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.32215DOI Listing
April 2008