Lorraine Potocki

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 16 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

GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61544

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0DataRank · unranked

28 citations

Rajarshi Ghosh, Molly E. Kuo, William Hong, Jaehyung Lim, Saunder Bernes +14 more

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

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

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0DataRank · unranked

49 citations

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

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

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0DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

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0DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00212-2

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0DataRank · unranked

0 citations

Laura Mackay, Keren Machol, Sundeep G. Keswani, Lorraine Potocki, Eleonora Di Gregorio +5 more

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62747

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0DataRank · unranked

9 citations

David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick +10 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

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.007

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0DataRank · unranked

28 citations

Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley +23 more

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

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0DataRank · unranked

24 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature Communications(2024)10.1038/s41467-023-44611-2

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0DataRank · unranked

15 citations

Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David R. Bell +53 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

0DataRank · unranked

6 citations

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

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Genome Medicine(2024)10.1186/s13073-024-01339-y

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0DataRank · unranked

6 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +49 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

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

medRxiv(2024)10.1101/2024.01.14.24301100

N/A

0DataRank · unranked

1 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +47 more