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O. Shchelochkov · SciRah

Researcher profile · Semantic Scholar

O. Shchelochkov

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O. Shchelochkov — researcher profile on SciRah

h-index: 31
Works: 75
Citations: 2,971

Most-cited papers

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
C. Brownstein, A. Beggs, N. Homer, Barry Merriman +194 more
2014Genome Biology308 citations Open access
Semantic Scholar
REQUIREMENT OF ARGININOSUCCINATE LYASE FOR SYSTEMIC NITRIC OXIDE PRODUCTION
A. Erez, S. Nagamani, O. Shchelochkov, M. Premkumar +18 more
2011Nature Medicine235 citations Open access
Semantic Scholar
Increased LIS1 expression affects human and mouse brain development
W. Bi, Tamar Sapir, O. Shchelochkov, Feng Zhang +21 more
2009Nature Genetics223 citations Open access
Semantic Scholar
Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia
M. Wat, O. Shchelochkov, A. Holder, A. Breman +7 more
2009American Journal of Medical Genetics. Part A167 citations Open access
Semantic Scholar
Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
S. Sreenath-Nagamani, F. Zhang, O. Shchelochkov, W. Bi +21 more
2009Journal of Medical Genetics135 citations
Semantic Scholar
Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
A. Shaibani, O. Shchelochkov, Shulin Zhang, Panagiotis Katsonis +3 more
2009Archives of Neurology124 citations Open access
Semantic Scholar
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
C. Schaaf, Philip M. Boone, S. Sampath, Charles A. Williams +20 more
2012European Journal of Human Genetics120 citations Open access
Semantic Scholar
Genomic Alterations that Contribute to the Development of Isolated and Non-Isolated Congenital Diaphragmatic Hernia
M. Wat, D. Veenma, J. Hogue, A. Holder +16 more
2011Journal of Medical Genetics102 citations Open access
Semantic Scholar
Defects of B Cell Terminal Differentiation in Patients with Type-1 Kabuki Syndrome
Andrew W. Lindsley, H. Saal, T. Burrow, R. Hopkin +9 more
2015Journal of Allergy and Clinical Immunology93 citations Open access
Semantic Scholar
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)
I. Manoli, J. Myles, J. Sloan, O. Shchelochkov +1 more
2015Genetics in Medicine91 citations Open access
Semantic Scholar
Phase 2 Comparison of A Novel Ammonia Scavenging Agent With Sodium Phenylbutyrate In Patients With Urea Cycle Disorders: Safety, Pharmacokinetics And Ammonia Control
Brendan H. Lee, W. Rhead, G. Diaz, B. Scharschmidt +10 more
2010Molecular Genetics and Metabolism90 citations Open access
Semantic Scholar
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
S. Nagamani, Philippe M. Campeau, O. Shchelochkov, M. Premkumar +17 more
2012American Journal of Human Genetics82 citations Open access
Semantic Scholar
An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions
B. Kim, Hitisha P. Zaveri, O. Shchelochkov, Zhiyin Yu +8 more
2013PLoS ONE74 citations Open access
Semantic Scholar
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension
M. Nimmakayalu, H. Major, V. Sheffield, Donald H. Solomon +3 more
2011American Journal of Medical Genetics. Part A65 citations
Semantic Scholar
Signaling pathways in human skeletal dysplasias.
Dustin Baldridge, O. Shchelochkov, Brian Kelley, Brendan H. Lee
2010Annual review of genomics and human genetics (Print)62 citations
Semantic Scholar
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
O. Shchelochkov, Fang-Yuan Li, M. Geraghty, R. Gallagher +9 more
2009Molecular Genetics and Metabolism61 citations
Semantic Scholar
Clinical and Environmental Influences on Metabolic Biomarkers Collected for Newborn Screening
K. Ryckman, S. L. Berberich, O. Shchelochkov, D. E. Cook +1 more
2012Clinical Biochemistry60 citations Open access
Semantic Scholar
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.
A. Erez, O. Shchelochkov, S. Plon, F. Scaglia +1 more
2011American Journal of Human Genetics60 citations Open access
Semantic Scholar
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Jordan Kho, Xiao-Yu Tian, W. Wong, T. Bertin +18 more
2018American Journal of Human Genetics52 citations Open access
Semantic Scholar
Hyperammonemic syndrome after Roux‐en‐Y gastric bypass
A. Fenves, O. Shchelochkov, Ankit N. Mehta
2015Obesity51 citations Open access
Semantic Scholar
Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?
N. Brunetti-Pierri, A. Erez, O. Shchelochkov, W. Craigen +1 more
2009Molecular Genetics and Metabolism47 citations Open access
Semantic Scholar
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
O. Shchelochkov, Ankita Patel, G. Weissenberger, A. Chinault +5 more
2008American Journal of Medical Genetics. Part A45 citations
Semantic Scholar
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Tyler Beck, D. Veenma, O. Shchelochkov, Zhiyin Yu +13 more
2013Human Molecular Genetics44 citations Open access
Semantic Scholar
Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives
O. Shchelochkov, Klara Dickinson, B. Scharschmidt, Brendan H. Lee +2 more
2016Molecular Genetics and Metabolism Reports40 citations Open access
Semantic Scholar
A Randomized Controlled Trial to Evaluate the Effects of High-Dose versus Low-Dose of Arginine Therapy on Hepatic Function Tests in Argininosuccinic Aciduria
S. Nagamani, O. Shchelochkov, M. A. Mullins, Susan Carter +7 more
2012Molecular Genetics and Metabolism38 citations Open access
Semantic Scholar
Chronic Kidney Disease in Propionic Acidemia
O. Shchelochkov, I. Manoli, J. Sloan, S. Ferry +9 more
2019Genetics in Medicine37 citations Open access
Semantic Scholar
Hepatocellular carcinoma in a gene therapy research subject with ornithine transcarbamylase deficiency
James M. Wilson, O. Shchelochkov, R. Gallagher, M. Batshaw
2011Molecular Genetics and Metabolism35 citations Open access
Semantic Scholar
Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A
M. Nimmakayalu, V. K. Horton, B. Darbro, S. Patil +3 more
2013American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
N. Hanchard, O. Shchelochkov, A. Roy, Joanna Wiszniewska +5 more
2011Molecular Genetics and Metabolism34 citations
Semantic Scholar
Genomic and clinical characteristics of microduplications in chromosome 17
O. Shchelochkov, Sau W. Cheung, J. Lupski
2010American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
O. Shchelochkov, Fangyuan Li, Jing Wang, H. Zhan +4 more
2010Molecular Genetics and Metabolism32 citations
Semantic Scholar
Severity modeling of propionic acidemia using clinical and laboratory biomarkers
O. Shchelochkov, I. Manoli, P. Juneau, J. Sloan +16 more
2021Genetics in Medicine24 citations Open access
Semantic Scholar
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features
Andrew B. Cyr, M. Nimmakayalu, Susannah Q. Longmuir, S. Patil +2 more
2011American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
The heritability of metabolic profiles in newborn twins
F. Y. Alul, D. E. Cook, O. Shchelochkov, L. G. Fleener +3 more
2012Heredity22 citations Open access
Semantic Scholar
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation
O. Shchelochkov, L. Wong, A. Shaibani, M. Shinawi
2009Muscle and Nerve21 citations
Semantic Scholar
Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis
Christopher A. Tan, Scott Topper, Daniela del Gaudio, V. Nelakuditi +11 more
2016Clinical Genetics20 citations
Semantic Scholar
Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3
Tyler Beck, O. Shchelochkov, Zhiyin Yu, B. Kim +7 more
2013PLoS ONE19 citations Open access
Semantic Scholar
Association of Amino Acids with Common Complications of Prematurity
K. Ryckman, J. Dagle, O. Shchelochkov, N. Ehinger +4 more
2013Pediatric Research18 citations Open access
Semantic Scholar
The influence of maternal disease on metabolites measured as part of newborn screening
K. Ryckman, O. Shchelochkov, D. E. Cook, S. L. Berberich +3 more
2013Journal of Maternal-Fetal & Neonatal Medicine18 citations Open access
Semantic Scholar
Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns
K. Ryckman, D. E. Cook, S. L. Berberich, O. Shchelochkov +5 more
2012Journal of Pediatric Endocrinology & Metabolism (JPEM)17 citations Open access
Semantic Scholar
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
I. Manoli, Alexandra R. Pass, Elizabeth A Harrington, J. Sloan +17 more
2021Genetics in Medicine16 citations Open access
Semantic Scholar
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement
O. Shchelochkov, M. L. Cooper, Z. Ou, S. Peacock +5 more
2008Molecular Cytogenetics14 citations Open access
Semantic Scholar
Molecular characterization of CPS1 deletions by array CGH
Jing Wang, O. Shchelochkov, H. Zhan, Fangyuan Li +6 more
2010Molecular Genetics and Metabolism12 citations Open access
Semantic Scholar
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia
K. Panzer, O. Ekhaguere, B. Darbro, J. Cook +1 more
2017Journal of Clinical Research in Pediatric Endocrinology10 citations Open access
Semantic Scholar
Ornithine Transcarbamylase Deficiency: A Possible Risk Factor for Thrombosis
L. Venkateswaran, F. Scaglia, V. McLin, Paula M. Hertel +4 more
2008Pediatric Blood & Cancer10 citations Open access
Semantic Scholar
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
P. Magoulas, O. Shchelochkov, M. Bainbridge, S. Ben-Shachar +16 more
2018Blood9 citations Open access
Semantic Scholar
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene
F. Pangilinan, D. Watkins, David J. Bernard, Yue Chen +16 more
2022American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Genetic associations with neonatal thyroid stimulating hormone levels
F. Alul, O. Shchelochkov, S. L. Berberich, J. Murray +1 more
2013Pediatric Research8 citations Open access
Semantic Scholar
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects
C. Connor, O. Shchelochkov, H. Ciliberto
2015American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster
M. Nimmakayalu, N. Noble, V. K. Horton, M. Willing +6 more
2012American Journal of Medical Genetics. Part A6 citations
Semantic Scholar

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