P. Liu

发表

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2020, bioRxiv.

Insights into genetics, human biology and disease gleaned from family based genomic studies

M. Gerstein, D. MacArthur, J. Rosenfeld, 2019, Genetics in Medicine.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

J. Lupski, S. Cheung, H. Zoghbi, 2011, Nature Genetics.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

J. Rosenfeld, C. Shaw, S. Lalani, 2021, Journal of Medical Genetics.

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Justyna A. Karolak, P. Stankiewicz, C. Shaw, 2020, Genetics in Medicine.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

J. Rosenfeld, H. Hakonarson, J. Lupski, 2019, Brain : a journal of neurology.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, Bradley P. Coe, 2020, Nature Communications.

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

Undiagnosed Diseases Network, J. Rosenfeld, I. Scheffer, 2020, Journal of inherited metabolic disease.

Research on urban landscape architecture planning and design of management information system based on GIS

P. Liu, J. Zhi, 2017 .

Passage Number is a Major Contributor to Genomic Structural Variations in Mouse iPSCs

J. Lupski, J. Hanna, O. Reiner, 2014, Stem cells.

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

A. Breman, C. Shaw, J. Lupski, 2020, Genetics in Medicine.

A Genocentric Approach to Discovery of Mendelian Disorders.

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2019, American journal of human genetics.

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

D. Goldstein, A. Allen, T. Strom, 2018, The EMBO journal.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

X-linked Acrogigantism ( X-LAG ) Syndrome : Clinical Profile and Therapeutic Responses

Lim, Jean-François, J. Lupski, 2015 .

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD)

Zhihong Wu, Yiping Shen, Shuyang Zhang, 2018, Journal of Human Genetics.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

J. Rosenfeld, Yaping Yang, J. Beuten, 2016, American journal of human genetics.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

Cardiovascular findings in duplication 17p11.2 syndrome

J. Lupski, W. Gu, P. Liu, 2011, Genetics in Medicine.

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

J. Rosenfeld, S. Lalani, V. Sutton, 2019, American journal of medical genetics. Part A.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, B. Coe, 2020, Nature Communications.

Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome

J. Lupski, P. Liu, L. Potocki, 2014, American journal of medical genetics. Part A.

Airborne Hyperspectral Remote Sensing Alteration Mapping for Uranium Exploration in Semistan, West Junggar, NW China

P. Liu, Feng Tian, Junting Qiu, 2014 .

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

J. Lupski, P. Liu, T. Harel, 2016, Human Genetics.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Donna M. Muzny, Yan Ding, Eric Boerwinkle, 2017, The New England journal of medicine.

Insights into genetics, human biology and disease gleaned from family based genomic studies

M. Gerstein, D. MacArthur, J. Rosenfeld, 2019, Genetics in Medicine.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Ellen F. Macnamara, Colleen E. Wahl, J. Rosenfeld, 2018, American journal of human genetics.

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

A. Breman, J. Lupski, Zhihong Wu, 2020, Kidney international.

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

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

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

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of human genetics.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

P. Stankiewicz, J. Lupski, J. Posey, 2020, Expert review of molecular diagnostics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

J. Lupski, You-Qiang Song, Zhihong Wu, 2018, Human Genetics.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

J. Lupski, P. Liu, L. Potocki, 2010, American journal of human genetics.

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

Michael M. Khayat, J. Rosenfeld, J. Lupski, 2020, Human mutation.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Clinical characterization of individuals with the distal 1q21.1 microdeletion

J. Rosenfeld, E. Grigorenko, J. Posey, 2021, American journal of medical genetics. Part A.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, American journal of human genetics.

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

A. Breman, C. Shaw, D. Edwards, 2019, American journal of human genetics.

Extraction of foreign bodies including chicken bone from esophageal walls

P. Liu, F. Bai, Ruijuan Xin, 2017 .

Bi-Allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

K. Choy, S. Dunwoodie, V. Siu, 2019, American journal of human genetics.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

J. Lupski, J. Wess, P. Chanson, 2014, The New England journal of medicine.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

A. Beaudet, D. Muzny, Yaping Yang, 2017, Genetics in Medicine.

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

Michael F. Wangler, Zhandong Liu, E. Venner, 2020, Molecular genetics & genomic medicine.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

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

David R. Murdock, Vicente A. Yépez, J. Rosenfeld, 2020, The Journal of clinical investigation.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

S. Antonarakis, J. Hunter, Yaping Yang, 2018, Human mutation.

Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice

J. Lupski, Zhihong Wu, Y. Li, 2019, Journal of Medical Genetics.

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

J. Lupski, Zhihong Wu, Jia Liu, 2020, Human mutation.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

J. Lupski, F. Kortüm, V. Sutton, 2019, American journal of medical genetics. Part A.

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.

P. Liu, M. V. Van Allen, J. Sawkins, 2017, European journal of medical genetics.

Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length

A. Bertuch, P. Liu, Gabrielle Henslee, 2021, Cold Spring Harbor molecular case studies.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

J. Lupski, C. Stratakis, N. Pellegata, 2016, Endocrine.

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, 2020, npj Genomic Medicine.

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Michael F. Wangler, A. Goldman, C. Eng, 2019, Cold Spring Harbor molecular case studies.

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.

J. Bernstein, E. Bodle, P. Liu, 2020, Pediatric neurology.

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

Mahshid S. Azamian, S. Lalani, T. Ogata, 2021, Frontiers in Cell and Developmental Biology.

Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants

J. Rosenfeld, P. Liu, Patrick S. Connell, 2020, Circulation. Genomic and precision medicine.

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

J. Rosenfeld, H. Freeze, V. Sutton, 2020, Genetics in Medicine.

An improved multi-population genetic algorithm for job shop scheduling problem

Xu Liang, Ming Huang, Pengfei Liu, 2010, 2010 IEEE International Conference on Progress in Informatics and Computing.