Lefkothea Karaviti

Also affiliated with Texas Children's Hospital

Biochemistry, Genetics and Molecular BiologyMedicine

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 15 papers. Top paper: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

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

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

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

N/A

0.564DataRank · unranked

42 citations

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

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 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

N/A

0.292DataRank · unranked

6 citations

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

Feasibility and acceptability of the TEAM pilot trial with African American and Latino families

Journal of Pediatric Psychology(2025)10.1093/jpepsy/jsaf001

N/A

0.233DataRank · unranked

3 citations

Marisa E. Hilliard, Krystal Christopher, Marissa N. Baudino, Charles G. Minard, Lefkothea Karaviti +1 more

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64233

N/A

0.104DataRank · unranked

1 citations

Kimberly Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan +16 more

Parent Perspectives of School/Daycare Experiences in Young Children Newly Diagnosed With Diabetes

Journal of Pediatric Psychology(2023)10.1093/jpepsy/jsad011

N/A

0DataRank · unranked

5 citations

Brenda Duran, Randi Streisand, Christine H. Wang, Carrie Tully, Lauren Clary +6 more

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101145

N/A

0DataRank · unranked

0 citations

Yutaka Furuta, Devin Oglesbee, Enikö K. Pivnick, David C. Rinker, Jonathan H. Sheehan +9 more

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

N/A

0DataRank · unranked

49 citations

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

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene

Neurogenetics(2025)10.1007/s10048-025-00835-6

N/A

0DataRank · unranked

0 citations

Russell J. Stewart, Yutaka Furuta, Kimberly Ezell, Lynette Rives, Bethany Nunley +12 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 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

N/A

0DataRank · unranked

30 citations

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

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

Journal of Clinical Investigation(2022)10.1172/jci154942

N/A

0DataRank · unranked

37 citations

Erica T. Nelson, Lefkothea Karaviti, Joy D. Cogan, Rizwan Hamid, John A. Phillips +1 more

Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess

Journal of Clinical Medicine(2022)10.3390/jcm11082168

N/A

0DataRank · unranked

19 citations

Giampaolo Trivellin, Pablo Beckers, Lefkothea Karaviti, Maya Lodish, Christina Tatsi +7 more

Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen

International Journal of Neonatal Screening(2023)10.3390/ijns9030050

N/A

0DataRank · unranked

3 citations

Mark C. Liang, Mitchell E. Geffner, Christina M. Koppin, Nicole R. Fraga, V. Reid Sutton +4 more