Pengfei Liu

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 5%percentile

0.461Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Papers

Driven by 47 papers — median percentile 59. 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

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 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

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62232

N/A

0.434DataRank · unranked

17 citations

Ming‐Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock +16 more

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Genome Research(2024)10.1101/gr.279346.124

N/A

0.396DataRank · unranked

13 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +17 more

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

Human Mutation(2022)10.1002/humu.24497

N/A

0.292DataRank · unranked

6 citations

Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong‐hui Jiang +10 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Human Mutation(2020)10.1002/humu.24118

N/A

0DataRank · unranked

18 citations

Adam Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang +21 more

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.001

N/A

0DataRank · unranked

45 citations

Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld +12 more

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

N/A

0DataRank · unranked

38 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 more

Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1130

N/A

0DataRank · unranked

5 citations

Guolian Ding, Kexin Zou, Zi-Ru Jiang, Junyu Zhang, Yun-hua Lu +7 more

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

UNC Libraries(2020)10.17615/dqyv-bh72

N/A

0DataRank · unranked

2 citations

Patricia A. Eng, M. Lance Cooper, Jonathan S. Berg, Marwan Shinawi, Weimin He +17 more

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.12.014

N/A

0DataRank · unranked

90 citations

Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan +72 more

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

Journal of genetics and genomics/Journal of Genetics and Genomics(2021)10.1016/j.jgg.2021.02.008

N/A

0DataRank · unranked

41 citations

Sen Zhao, Chenxi Yu, Di Wu, Zihui Yan, Lijun Fan +25 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Heterozygous variants in SPTBN1 cause intellectual disability and autism

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62201

N/A

0DataRank · unranked

28 citations

Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael Parker, Mary Kay Koenig +17 more

Non-canonical NRF2 activation promotes a pro-diabetic shift in hepatic glucose metabolism

Molecular Metabolism(2021)10.1016/j.molmet.2021.101243

N/A

0DataRank · unranked

27 citations

Matthew Dodson, Hui Li, Cody J. Schmidlin, Aryatara Shakya, Yongyi Wei +9 more

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12367

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Enikö K. Pivnick, Amal Alhashem +15 more

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Frontiers in Cell and Developmental Biology(2021)10.3389/fcell.2021.631428

N/A

0DataRank · unranked

10 citations

Tokiko Fukuda, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia +13 more

Saturation mutagenesis defines novel mouse models of severe spine deformity

Disease Models & Mechanisms(2021)10.1242/dmm.048901

N/A

0DataRank · unranked

6 citations

Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie L. Russell +8 more

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Human Mutation(2022)10.1002/humu.24435

N/A

0DataRank · unranked

29 citations

Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie +20 more

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.005

N/A

0DataRank · unranked

29 citations

Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton +15 more

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62967

N/A

0DataRank · unranked

7 citations

Linyan Meng, Pengfei Liu, Christina Y. Miyake, Kim C. Worley, Weimin He +2 more

Differential Effects of Arsenic in Drinking Water on Mouse Hepatic and Intestinal Heme Oxygenase-1 Expression

Antioxidants(2022)10.3390/antiox11091835

N/A

0DataRank · unranked

3 citations

Xiaoyu Fan, Xiangmeng Wu, Weiguo Han, Mary Kay Amistadi, Pengfei Liu +5 more

Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories

Genetics in Medicine(2023)10.1016/j.gim.2023.100818

N/A

0DataRank · unranked

6 citations

Haley Streff, Pengfei Liu, Meghan C. Towne, Hadley Stevens Smith, Julie Stefka

RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.009

N/A

0DataRank · unranked

4 citations

Yang Li, Nandina Paria, Ryan J. Bohlender, Chad Huff, Jill A. Rosenfeld +17 more

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

Human Genetics(2023)10.1007/s00439-023-02550-4

N/A

0DataRank · unranked

2 citations

Haowei Du, Tomasz Gambin, James R. Lupski, Pengfei Liu, Paweł Stankiewicz +1 more

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

Research Square(2023)10.21203/rs.3.rs-2628288/v1

N/A

0DataRank · unranked

0 citations

Haowei Du, Tomasz Gambin, Pengfei Liu, James R. Lupski, Paweł Stankiewicz +1 more

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

NEJM AI(2024)10.1056/aioa2300009

N/A

0DataRank · unranked

45 citations

Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti +18 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

N/A

0DataRank · unranked

28 citations

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

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Human Genetics(2024)10.1007/s00439-024-02657-2

N/A

0DataRank · unranked

6 citations

Elizabeth A. Burke, Sukyeong Lee, Tanya N. Eble, Melanie O’Leary, Ikeoluwa Osei‐Owusu +18 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

Clinical validation of RNA sequencing for Mendelian disorder diagnostics

medRxiv(2024)10.1101/2024.08.15.24312057

N/A

0DataRank · unranked

2 citations

Kristina Macakova, Jefferson Sinson, Hongzheng Dai, Jill A. Rosenfeld, Gladys Zapata +10 more

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

medRxiv(2024)10.1101/2024.04.22.24305780

N/A

0DataRank · unranked

1 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +14 more

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.09.013

N/A

0DataRank · unranked

3 citations

Jefferson C. Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova +15 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

Journal of Clinical Investigation(2020)10.1172/jci141500

N/A

0DataRank · unranked

189 citations

Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller +13 more

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

medRxiv(2025)10.1101/2025.01.28.25321295

N/A

0DataRank · unranked

1 citations

Jefferson Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova +16 more

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Nature Communications(2020)10.1038/s41467-020-18723-y

N/A

0DataRank · unranked

217 citations

Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe +95 more

The NRF2-LOC344887 signaling axis suppresses pulmonary fibrosis

Redox Biology(2020)10.1016/j.redox.2020.101766

N/A

0DataRank · unranked

78 citations

Gang Luo, Matthew Dodson, Cody J. Schmidlin, Yongyi Wei, Barış Kerimoğlu +5 more

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Genetics in Medicine(2020)10.1038/s41436-020-0864-8

N/A

0DataRank · unranked

71 citations

Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper +25 more

SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients

Kidney Medicine(2020)10.1016/j.xkme.2020.01.010

N/A

0DataRank · unranked

51 citations

Cary R. Boyd‐Shiwarski, Pengfei Liu, Danica Novacic, David Cassiman, Evan C. Ray

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

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100014

N/A

0DataRank · unranked

22 citations

Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Rossetti +19 more

NRF2 negatively regulates primary ciliogenesis and hedgehog signaling

PLoS Biology(2020)10.1371/journal.pbio.3000620

N/A

0DataRank · unranked

26 citations

Matthew Dodson, Deyu Fang, Eli Chapman, Donna D. Zhang, Pengfei Liu

Pengfei Liu

Indexed papers

Top data-sharing exemplar

Papers