Sarah H. Elsea

Also affiliated with Texas Children's Hospital, Baylor Genetics

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 19 papers. Top paper: “Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis”.

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

Genetics in Medicine(2020)10.1038/s41436-020-0827-0

N/A

0DataRank · unranked

53 citations

Kevin E. Glinton, Ning Liu, Jing Xiao, Yaping Yang, V. Reid Sutton +2 more

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Bone(2020)10.1016/j.bone.2019.115219

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0DataRank · unranked

19 citations

Kristina Cusmano‐Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mıhçı +16 more

Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays

Neurology(2020)10.1212/wnl.0000000000009912

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0DataRank · unranked

7 citations

Kerri Neville, Nancy McNamara, Catherine E. Keegan, Sarah H. Elsea, Elizabeth G. Ames

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.001

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0DataRank · unranked

36 citations

Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez‐Ospina, Carlos O. Esquivel +18 more

Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression

eLife(2020)10.7554/elife.48963

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0DataRank · unranked

29 citations

Yumeng Wang, Kathleen Kong, Caitlin L. Grzeskowiak, Oksana Zagorodna, Turgut Dogruluk +9 more

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.07.013

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0DataRank · unranked

24 citations

Taraka Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert +11 more

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

JAMA Network Open(2021)10.1001/jamanetworkopen.2021.14155

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0DataRank · unranked

74 citations

Jing Xiao, Charul Gijavanekar, Kirk L. Pappan, Kevin E. Glinton, Brian J. Shayota +5 more

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Scientific Reports(2021)10.1038/s41598-021-90798-z

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0DataRank · unranked

12 citations

Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman‐Englert +6 more

NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.04.003

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0DataRank · unranked

31 citations

Daniel G. Calame, Charul Gijavanekar, Kristen Fisher, Jill V. Hunter, Elizabeth Mizerik +4 more

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Scientific Reports(2022)10.1038/s41598-022-10415-5

N/A

0DataRank · unranked

42 citations

Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman +5 more

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis

Metabolites(2022)10.3390/metabo12040351

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0DataRank · unranked

18 citations

Kevin E. Glinton, Xiqi Li, Ana Santos de Medeiros, Patrick J. Gillespie, John R. Seavitt +3 more

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders

Human Molecular Genetics(2022)10.1093/hmg/ddac200

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0DataRank · unranked

11 citations

Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota +19 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940

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0DataRank · unranked

5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more

Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107699

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0DataRank · unranked

5 citations

Charles G. Minard, Ning Liu, Qin Sun, Sarah H. Elsea, Lindsay C. Burrage +2 more

Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome

Obesity Research & Clinical Practice(2024)10.1016/j.orcp.2024.07.001

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0DataRank · unranked

13 citations

Stephanie Sisley, Sheila M. Brady, Ann C. M. Smith, Sarah H. Elsea, Jeremy Pomeroy +6 more

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101857

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0DataRank · unranked

7 citations

Jenna Shi, Theresa A. Wilson, Sarah H. Elsea, Stephanie Sisley, Citrine Elatrash

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108363

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0DataRank · unranked

11 citations

Mariarita Bertoldi, Nenad Blau, Melissa L. DiBacco, Sarah H. Elsea, Àngels García‐Cazorla +19 more

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata

Biomolecules(2025)10.3390/biom16010006

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0DataRank · unranked

1 citations

Meredith I. Williams, Wedad Fallatah, Laura Mackay, M C Brown, Pranjali Bhagwat +4 more