Pengfei Liu

ScholarGPS® ID: 35447170487605

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

2,370

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy (journal article) Dardas, Zain \| Fatih, Jawid M. \| Jolly, Angad \| Dawood, Moez \| Du, Haowei \| Grochowski, Christopher M. \| Jones, Edward G. \| Jhangiani, Shalini N. \| Wehrens, Xander H. T. \| Liu, Pengfei \| ... \| Morris, Shaine A. Genome Medicine, volume 16, issue 1 (2024). 10.1186/s13073-024-01312-9 Cite \| Source
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia (journal article) Zemet, Roni \| Du, Haowei \| Gambin, Tomasz \| Lupski, James R. \| Liu, Pengfei \| Stankiewicz, Paweł Human Genetics, volume 142, issue 6, pages 721-733 (2023). 10.1007/s00439-023-02550-4 Cite \| Source
Expansion of the clinical and molecular spectrum of WWOX ‐related epileptic encephalopathy (journal article) Chong, Shuk Ching \| Cao, Ye \| Fung, Eva L. W. \| Kleppe, Soledad \| Gripp, Karen W. \| Hertecant, Jozef \| El‐Hattab, Ayman W. \| Suleiman, Jehan \| Clark, Gary \| von Allmen, Gretchen \| ... \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 191, issue 3, pages 776-785 (2023). 10.1002/ajmg.a.63074 Cited by (3) \| Cite \| Source
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay (journal article) Dai, Hongzheng \| Zhu, Wenmiao \| Yuan, Bo \| Walley, Nicole \| Schoch, Kelly \| Jiang, Yong‐Hui \| Phillips, John A. \| Jones, Melissa S. \| Liu, Pengfei \| Murdock, David R. \| ... \| Xiao, Rui Human Mutation, volume 43, issue 12, pages 1816-1823 (2022). 10.1002/humu.24497 Cited by (1) \| Cite \| Source
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis (journal article) Kumar, Runjun D. \| Meng, Linyan \| Liu, Pengfei \| Miyake, Christina Y. \| Worley, Kim C. \| Bi, Weimin \| Lalani, Seema R. American Journal of Medical Genetics Part A, volume 188, issue 11, pages 3184-3190 (2022). 10.1002/ajmg.a.62967 Cited by (3) \| Cite \| Source
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes (journal article) Yang, Qixin \| Berkman, Amy M. \| Ezekian, Jordan E. \| Rosamilia, Michael \| Rosenfeld, Jill A. \| Liu, Pengfei \| Landstrom, Andrew P. Journal of the American Heart Association, volume 11, issue 19 (2022). 10.1161/JAHA.122.025257 Cited by (4) \| Cite \| Source
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits (journal article) Yuan, Bo \| Schulze, Katharina V. \| Assia Batzir, Nurit \| Sinson, Jefferson \| Dai, Hongzheng \| Zhu, Wenmiao \| Bocanegra, Francia \| Fong, Chin-To \| Holder, Jimmy \| Nguyen, Joanne \| ... \| Liu, Pengfei Genome Medicine, volume 14, issue 1 (2022). 10.1186/s13073-022-01113-y Cited by (4) \| Cite \| Source
Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing (journal article) Liu, Pengfei \| Vossaert, Liesbeth Prenatal Diagnosis, volume 42, issue 6, pages 686-696 (2022). 10.1002/pd.6146 Cited by (8) \| Cite \| Source
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH (journal article) Scott, Tiana M \| Campbell, Ian M \| Hernandez-Garcia, Andres \| Lalani, Seema R \| Liu, Pengfei \| Shaw, Chad A \| Rosenfeld, Jill A \| Scott, Daryl A Journal of Medical Genetics, volume 59, issue 3, pages 270-278 (2022). 10.1136/jmedgenet-2020-107317 Cited by (21) \| Cite \| Source
eP337: Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology (journal article) Dai, Hongzheng \| Vossaert, Liesbeth \| Zhao, Xiaonan \| Schulze, Katharina \| Liu, Pengfei \| Qu, Chunjing \| Nguyen, Vy \| Santana, Michael \| Xia, Fan \| Eng, Christine \| Meng, Linyan Genetics in Medicine, volume 24, issue 3, pages S210-S211 (2022). 10.1016/j.gim.2022.01.372 Cite \| Source
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset (journal article) Domogala, Daniel D. \| Gambin, Tomasz \| Zemet, Roni \| Wu, Chung Wah \| Schulze, Katharina V. \| Yang, Yaping \| Wilson, Theresa A. \| Machol, Ido \| Liu, Pengfei \| Stankiewicz, Paweł Human Genomics, volume 15, issue 1 (2021). 10.1186/s40246-021-00369-6 Cited by (12) \| Cite \| Source
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients (journal article) Wang, Lei \| Liu, Pengfei \| Bi, Weimin \| Sim, Teresa \| Wang, Xia \| Walkiewicz, Magdalene \| Leduc, Magalie Sophie \| Meng, Linyan \| Xia, Fan \| Eng, Christine M. \| ... \| Dai, Hongzheng Molecular Genetics & Genomic Medicine, volume 9, issue 11 (2021). 10.1002/mgg3.1792 Cited by (3) \| Cite \| Source
Saturation mutagenesis defines novel mouse models of severe spine deformity (journal article) Rios, Jonathan J. \| Denton, Kristin \| Yu, Hao \| Manickam, Kandamurugu \| Garner, Shannon \| Russell, Jamie \| Ludwig, Sara \| Rosenfeld, Jill A. \| Liu, Pengfei \| Munch, Jake \| ... \| Wise, Carol A. Disease Models & Mechanisms, volume 14, issue 6 (2021). 10.1242/dmm.048901 Cited by (5) \| Cite \| Source
Clinical characterization of individuals with the distal 1q21.1 microdeletion (journal article) Edwards, Stacey D. \| Schulze, Katharina V. \| Rosenfeld, Jill A. \| Westerfield, Lauren E. \| Gerard, Amanda \| Yuan, Bo \| Grigorenko, Elena L. \| Posey, Jennifer E. \| Bi, Weimin \| Liu, Pengfei American Journal of Medical Genetics Part A, volume 185, issue 5, pages 1388-1398 (2021). 10.1002/ajmg.a.62104 Cited by (5) \| Cite \| Source
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation (journal article) Saida, Ken \| Fukuda, Tokiko \| Scott, Daryl A. \| Sengoku, Toru \| Ogata, Kazuhiro \| Nicosia, Annarita \| Hernandez-Garcia, Andres \| Lalani, Seema R. \| Azamian, Mahshid S. \| Streff, Haley \| ... \| Matsumoto, Naomichi Frontiers in Cell and Developmental Biology, volume 9 (2021). 10.3389/fcell.2021.631428 Cited by (4) \| Cite \| Source
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1 (journal article) Walters, Michelle E. \| Lacassie, Yves \| Azamian, Mahshid \| Franciskovich, Rachel \| Zapata, Gladys \| Hernandez, Patricia P. \| Liu, Pengfei \| Campbell, Ian M. \| Bostwick, Bret L. \| Lalani, Seema R. American Journal of Medical Genetics Part A, volume 185, issue 3, pages 916-922 (2021). 10.1002/ajmg.a.62036 Cited by (2) \| Cite \| Source
Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length (journal article) Henslee, Gabrielle \| Williams, Christopher L. \| Liu, Pengfei \| Bertuch, Alison A. Molecular Case Studies, volume 7, issue 1, pages a005454- (2021). 10.1101/mcs.a005454 Cited by (6) \| Cite \| Source
Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN -Encoded Titin Truncating Variants (journal article) Connell, Patrick S. \| Berkman, Amy M. \| Souder, BriAnna M. \| Pirozzi, Elisa J. \| Lovin, Julia J. \| Rosenfeld, Jill A. \| Liu, Pengfei \| Tunuguntla, Hari \| Allen, Hugh D. \| Denfield, Susan W. \| ... \| Landstrom, Andrew P. Circulation: Genomic and Precision Medicine, volume 14, issue 1 (2021). 10.1161/CIRCGEN.120.003131 Cited by (6) \| Cite \| Source
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing (journal article) Murdock, David R. \| Dai, Hongzheng \| Burrage, Lindsay C. \| Rosenfeld, Jill A. \| Ketkar, Shamika \| Müller, Michaela F. \| Yépez, Vicente A. \| Gagneur, Julien \| Liu, Pengfei \| Chen, Shan \| ... \| Lee, Brendan Journal of Clinical Investigation, volume 131, issue 1 (2021). 10.1172/JCI141500 Cited by (86) \| Cite \| Source
Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1 (journal article) Bodle, Ethan E. \| Zhu, Wenmiao \| Velez-Bartolomei, Frances \| Tesi-Rocha, Ana \| Liu, Pengfei \| Bernstein, Jonathan A. Pediatric Neurology, volume 114 (2021). 10.1016/j.pediatrneurol.2020.09.011 Cited by (8) \| Cite \| Source