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Author Details

Urvashi Surti
University of Pittsburgh
1978
202
50
Christopher Churas (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
34021051A protein-truncating mutation in <i>CCNB3</i> in a patient with recurrent miscarriages and failure of meiosis I.J Med Genet2022
33972719Reproductive outcomes in individuals with chromosomal reciprocal translocations.Genet Med2021
33828295The structure, function and evolution of a complete human chromosome 8.Nature2021
33666368Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.Mol Genet Genomic Med2021
33724415Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics2021
33009833Copy number alterations involving 59 ACMG-recommended secondary findings genes.Clin Genet2020
32055942A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.Virchows Arch2020
32051555Correction: Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.Mod Pathol2020
31857680Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.Mod Pathol2020
31711268Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.Ann Hum Genet2020
31913574Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.Am J Med Genet A2020
30542208Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.J Hum Genet2019
30048823Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.Eur J Med Genet2019
31047698Low-level BCR-ABL1 transcripts in individuals without overt hematologic malignancy.Leuk Res2019
27221715CD49d shows superior performance characteristics for flow cytometric prognostic testing in chronic lymphocytic leukemia/small lymphocytic lymphoma.Cytometry B Clin Cytom2018
30286452Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.Cytogenet Genome Res2018
30302900Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.Am J Med Genet A2018
26808135Correlation of Classic and Molecular Cytogenetic Alterations in Soft-Tissue Sarcomas: Analysis of 46 Tumors With Emphasis on Adipocytic Tumors and Synovial Sarcoma.Appl Immunohistochem Mol Morphol2017
28289056Expression and trafficking of placental microRNAs at the feto-maternal interface.FASEB J2017
29048729Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.Am J Med Genet A2017
28649281Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.Mol Cytogenet2017
28614202Further Exploration of the Complexities of Large B-Cell Lymphomas With MYC Abnormalities and the Importance of a Blastoid Morphology.Am J Surg Pathol2017
28864017Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.Placenta2017
27889101Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays.Fertil Steril2017
26153062High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.Clin Genet2016
28253504Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.Cytogenet Genome Res2016
28214896The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia.Cytogenet Genome Res2016
26353853Giant Cell Arteritis of the Female Genital Tract With Occult Temporal Arteritis and Marginal Zone Lymphoma Harboring Novel 20q Deletion: A Case Report and Literature Review.Int J Surg Pathol2016
27286879Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.Am J Med Genet A2016
27569549DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.Am J Hum Genet2016
27071622Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.Hum Genet2016
25383537Resolving the complexity of the human genome using single-molecule sequencing.Nature2015
26299921Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?Oncotarget2015
26379148Expression of S100 Protein in CD4-positive T-cell Lymphomas Is Often Associated With T-cell Prolymphocytic Leukemia.Am J Surg Pathol2015
26528485Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions.Mol Neuropsychiatry2015
26257835CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.J Neurodev Disord2015
26193636Med12 gain-of-function mutation causes leiomyomas and genomic instability.J Clin Invest2015
25866352A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.Am J Med Genet A2015
25860247Chronic lymphocytic leukemia/small lymphocytic lymphoma: another neoplasm related to the B-cell follicle?Leuk Lymphoma2015
25810350Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.Am J Med Genet A2015
25444417Recent advances of genomic testing in perinatal medicine.Semin Perinatol2015
25437880Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.J Clin Invest2015
24443387Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.Am J Med Genet A2014
26030165Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.J Assoc Genet Technol2014
25480036MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.Am J Hum Genet2014
25373144Single haplotype assembly of the human genome from a hydatidiform mole.Genome Res2014
25097207Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.J Med Genet2014
25151588Large B-cell lymphoma of the base of the tongue and oral cavity: a practical approach to identifying prognostically important subtypes.Oral Surg Oral Med Oral Pathol Oral Radiol2014
24592505Familial microduplication of 17q23.1â¿¿q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.Am J Med Genet A2014
24436273Whole-genome single nucleotide polymorphism array analysis is complementary to classical cytogenetic analysis in the evaluation of lymphoid proliferations.Am J Clin Pathol2014
  • 1 - 50 of 202

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Collaborators

Aleksandar Rajkovic
Co-authored papers 21
Patricia Mowery-Rushton
Co-authored papers 8
Evan E Eichler
University of Washington
Co-authored papers 7
Aravinda Chakravarti
New York University Grossman School of Medicine
Co-authored papers 7
Robert E Ferrell
Co-authored papers 7
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Co-authored papers 4
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University of Washington School of Medicine
Co-authored papers 3
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University of Florida, College of Medicine-Jacksonville
Co-authored papers 3
Tamim H Shaikh
Co-authored papers 3
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Radboud University Medical Center
Co-authored papers 2
Michael Litt
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Co-authored papers 2
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Co-authored papers 2
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CytoGnomix Inc.
Co-authored papers 2
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Co-authored papers 2
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Cardiovascular Research Institute, University of California San Francisco
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Huaiyang Jiang
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Susan L Christian
Seattle Children's Research Institute
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Jeffrey M Kidd
University of Michigan Medical School ann arbor
Co-authored papers 2
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 2
Santhosh Girirajan
The Huck Institutes of Life Sciences, University Park, Pennsylvania State University
Co-authored papers 2
Mark F Leppert
University of Utah
Co-authored papers 2
Michael A Newton
University of Wisconsin School of Medicine and Public Health
Co-authored papers 1
Edwin H Cook
Co-authored papers 1
Jonathan Sebat
University of California San Diego
Co-authored papers 1
Charles E Schwartz
Co-authored papers 1
Michael S Waterman
Biocomplexity Institute and Initiative
Co-authored papers 1
Ronald Jaffe
Co-authored papers 1
Release 1.2