Rui Xiao

发表

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia.

P. Stankiewicz, P. Szafranski, J. Whitsett, 2019, American journal of respiratory and critical care medicine.

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, American journal of medical genetics. Part A.

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

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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

T. Crawford, A. Hamosh, C. Stafstrom, 2016, Annals of neurology.

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

J. Rosenfeld, K. Schoch, J. Phillips, 2022, Human mutation.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

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

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Michael F. Wangler, J. Rosenfeld, D. Goldstein, 2017, American journal of human genetics.

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.

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

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

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

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, Nature Communications.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Yanming Feng, Fan Xia, Tomasz Gambin, 2019, Genome Medicine.

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.

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.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

R. Gibbs, D. Muzny, Yaping Yang, 2018, Genome Medicine.

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

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

Reanalysis of Clinical Exome Sequencing Data.

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

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

R. Gibbs, D. Muzny, Yaping Yang, 2018, Genome Medicine.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

Magalie S Leduc, Yaping Yang, J. Beuten, 2017, American journal of medical genetics. Part A.

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

J. Rosenfeld, K. Flanigan, K. Wierenga, 2019, Genetics in Medicine.

Genotype‐phenotype study and expansion of ARL6IP1‐related complicated hereditary spastic paraplegia

J. Rosenfeld, Yaping Yang, C. Siskind, 2020, Clinical genetics.

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA

Rui Xiao, Junxian Fu, Guang-Lu Yang, 2018, Medicine.

R. Ghosh, P. Tanpaiboon, A. Antonellis, 2020, American journal of medical genetics. Part A.

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency

Yaping Yang, M. Bekheirnia, F. Scaglia, 2019, American journal of medical genetics. Part A.

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

J. Rosenfeld, S. Lalani, V. Chau, 2021, Clinical genetics.

Heterozygous variants in SPTBN1 cause intellectual disability and autism

J. Rosenfeld, Yaping Yang, F. Xia, 2021, American journal of medical genetics. Part A.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

P. Stankiewicz, C. Shaw, Yaping Yang, 2019, Genome Medicine.

Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab.

F. Xia, C. Eng, Ido Machol, 2023, Genetics in Medicine.

First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3

Rui Xiao, Katie Bergstrom, M. Elghetany, 2019, International Journal of Hematology.

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

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.