Frances A. High

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 23 papers. Top paper: “An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids”.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

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0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

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0DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081

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0DataRank · unranked

41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.011

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0DataRank · unranked

50 citations

Le Xu, Lan Yu, Julia Wynn, Rebecca Hernan, Xueya Zhou +33 more

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Molecular Case Studies(2021)10.1101/mcs.a005827

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0DataRank · unranked

30 citations

Melissa Walker, Frances A. High, Cynthia A. Cooper, Cassandra A. Rogers, Christine J. Callahan +14 more

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

medRxiv(2021)10.1101/2021.07.07.21259278

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0DataRank · unranked

2 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Matthew J. Dysart, Hannah T. M. Contreras +33 more

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 and ALYREF as new candidate risk genes

medRxiv(2021)10.1101/2021.06.01.21257928

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0DataRank · unranked

0 citations

Le Xu, Lan Yu, Julia Wynn, Rebecca Hernan, Xueya Zhou +33 more

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.011

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0DataRank · unranked

27 citations

Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang +13 more

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526

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0DataRank · unranked

17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more

A tracheal aspirate-derived airway basal cell model reveals a proinflammatory epithelial defect in congenital diaphragmatic hernia

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.11.10.515365

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0DataRank · unranked

3 citations

Gaurang M. Amonkar, Wei Wang, Jessica E. Shui, K. Bankoti, Wai Hei Tse +9 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

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0DataRank · unranked

34 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

A Tracheal Aspirate-derived Airway Basal Cell Model Reveals a Proinflammatory Epithelial Defect in Congenital Diaphragmatic Hernia

American Journal of Respiratory and Critical Care Medicine(2023)10.1164/rccm.202205-0953oc

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0DataRank · unranked

27 citations

Gaurang M. Amonkar, Wei Wang, Jessica E. Shui, K. Bankoti, Wai Hei Tse +9 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

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0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Genetics(2023)10.1093/genetics/iyad110

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0DataRank · unranked

12 citations

Lauren C. Briere, Kristy L. Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.002

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0DataRank · unranked

8 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart +34 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

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0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

Journal of Pediatric Genetics(2023)10.1055/s-0043-1767731

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0DataRank · unranked

5 citations

Andrés Hernández, Jennifer M. Lyu, Ian M. Campbell, Chad A. Shaw, Julie Vogt +5 more

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases

Journal of Clinical Investigation(2023)10.1172/jci169619

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0DataRank · unranked

3 citations

Takanori Sasaki, Joshua Keegan, Jennifer P. Nguyen, Alec Griffith, Alice Horisberger +21 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

medRxiv(2023)10.1101/2023.01.31.23285113

N/A

0DataRank · unranked

0 citations

Lauren C. Briere, Kristy Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.024

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0DataRank · unranked

14 citations

Carrie L. Welch, Rebecca Hernan, Julia Wynn, Usha Krishnan, Jill M. Zalieckas +46 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

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0DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

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0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

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0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more