Author details

Full Name

Pengfei Liu

Affiliation

ORCID

Career Start Year

2009

Papers

122

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36150828	Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.	J Med Genet	2023
37162139	Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with corpus callosum agenesis.		2023
37031326	SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.	Hum Genet	2023
36909564	SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia.	Res Sq	2023
36537114	Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.	Am J Med Genet A	2023
36129056	Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.	Journal of the American Heart Association	2022
36112137	Functional characteristics of a broad spectrum of TBX6Â variants in Mayer-Rokitansky-KÃ¼ster-Hauser syndrome.	Genet Med	2022
36065636	Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.	Am J Med Genet A	2022
35904974	Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.	Am J Med Genet A	2022
35815345	Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.	Hum Mutat	2022
33461977	Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.	Journal of Medical Genetics	2022
35169139	Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.	NPJ Genom Med	2022
34906496	Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.	Genet Med	2022
36317458	A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.	Hum Mutat	2022
36303224	The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.	Genome Med	2022
36206744	De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.	Am J Hum Genet	2022
36180924	Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.	Genome Med	2022
33748114	Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.	Frontiers in Cell and Developmental Biology	2021
33665635	Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.	HGG Adv	2021
33583022	Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.	J Inherit Metab Dis	2021
33576134	Clinical characterization of individuals with the distal 1q21.1 microdeletion.	Am J Med Genet A	2021
33513338	Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.	Am J Hum Genet	2021
33446513	Identification and characterization of novel <i>ACD</i> variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.	Cold Spring Harb Mol Case Stud	2021
33434492	Perturbations of genes essential for MÃ¼llerian duct and WÃ¶lffian duct development in Mayer-Rokitansky-KÃ¼ster-Hauser syndrome.	Am J Hum Genet	2021
33369125	Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.	American Journal of Medical Genetics, Part A	2021
33226272	Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified <i>TTN</i>-Encoded Titin Truncating Variants.	Circ Genom Precis Med	2021
33189025	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.	Pediatr Neurol	2021
33001864	Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.	J Clin Invest	2021
35047859	Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.	HGG Adv	2021
34930489	Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.	Hum Genomics	2021
34876591	De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.	NPJ Genom Med	2021
32381727	Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).	J Med Genet	2021
34587367	Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.	Mol Genet Genomic Med	2021
34142127	Saturation mutagenesis defines novel mouse models of severe spine deformity.	Dis Model Mech	2021
34006472	Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.	J Genet Genomics	2021
33949769	A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.	American Journal of Medical Genetics, Part A	2021
33874999	Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.	Genome Med	2021
33847457	Heterozygous variants in SPTBN1 cause intellectual disability and autism.	Am J Med Genet A	2021
31401562	Exome sequencing reveals a novel variant in <i>NFX1</i> causing intracranial aneurysm in a Chinese family.	J Neurointerv Surg	2020
33110627	Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.	NPJ Genom Med	2020
32954863	Clinical genomics and contextualizing genome variation in the diagnostic laboratory.	Expert Rev Mol Diagn	2020
32935419	Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.	Hum Mutat	2020
32734255	SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients.	Kidney Medicine	2020
32655138	Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.	Genet Med	2020
32576985	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.	Genet Med	2020
32461667	Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.	Genet Med	2020
32450157	Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.	Kidney Int	2020
32330417	De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.	Am J Hum Genet	2020
31971667	Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia.	Mol Genet Genomic Med	2020
31888956	Increased <i>TBX6</i> gene dosages induce congenital cervical vertebral malformations in humans and mice.	J Med Genet	2020