V. Jobanputra

发表

Strong Association of De Novo Copy Number Mutations with Autism

Kenny Q. Ye, J. Sebat, B. Lakshmi, 2007, Science.

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer

V. Jobanputra, Anne-Katrin Emde, K. Wrzeszczynski, 2018, The Journal of molecular diagnostics : JMD.

Clinical utility of genomic sequencing: a measurement toolkit

V. Jobanputra, R. Green, E. Ashley, 2020, npj Genomic Medicine.

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

Indel variant analysis of short-read sequencing data with Scalpel

Ewa A. Bergmann, M. Schatz, Yoon-ha Lee, 2015, Nature Protocols.

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders

V. Jobanputra, Preti Jain, M. Mansukhani, 2016, Oncotarget.

Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma

V. Jobanputra, R. Higuchi, Masakazu Yamamoto, 2017, Modern Pathology.

Prenatal PAH exposure is associated with chromosome-specific aberrations in cord blood.

V. Jobanputra, D. Warburton, F. Perera, 2010, Mutation research.

renatal PAH exposure is associated with chromosome-specific berrations in cord blood anuela

V. Jobanputra, D. Warburton, F. Perera, 2010 .

Deep sequencing of 3 cancer cell lines on 2 sequencing platforms

V. Jobanputra, M. Zody, N. Robine, 2019, bioRxiv.

The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders

V. Jobanputra, A. Shabalin, Anthony W. Zoghbi, 2021, Molecular Psychiatry.

Distinct properties of cyclin-dependent kinase complexes containing cyclin A1 and cyclin A2.

V. Jobanputra, D. Wolgemuth, Ayesha R. Joshi, 2009, Biochemical and biophysical research communications.

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa

V. Jobanputra, Jesse D. Sengillo, S. Tsang, 2018, Documenta Ophthalmologica.

G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic.

V. Jobanputra, E. Hod, J. Jhang, 2013, The American journal of tropical medicine and hygiene.

Whole Genome Sequencing-Based Discovery of Structural Variants in Glioblastoma.

V. Jobanputra, R. Darnell, Anne-Katrin Emde, 2018, Methods in molecular biology.

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

V. Jobanputra, D. Warburton, B. Levy, 2011, American journal of medical genetics. Part A.

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Christie M. Buchovecky, V. Jobanputra, S. Tsang, 2022, Scientific Reports.

Urinary NaphtholMetabolites andChromosomal Aberrations in 5-Year-Old Children

V. Jobanputra, D. Warburton, F. Perera, 2012 .

Urinary Naphthol Metabolites and Chromosomal Aberrations in 5-Year-Old Children

V. Jobanputra, D. Warburton, F. Perera, 2012, Cancer Epidemiology, Biomarkers & Prevention.

UrinaryNaphthol Metabolites andChromosomal Aberrations in 5-Year-Old Children

V. Jobanputra, D. Warburton, F. Perera, 2012 .

Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features

Suzanne K. Lewis, V. Jobanputra, G. Bhagat, 2013, PloS one.

Abstract 4497: NYGC glioblastoma clinical outcomes pilot study: Discovering therapeutic potential in glioblastoma through integrative genomics

V. Jobanputra, V. Vacic, M. Zody, 2016 .

A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays.

Marilyn M. Li, V. Jobanputra, S. Kash, 2015, Cancer genetics.

Expanding the phenotype of ATP6AP1 deficiency

V. Jobanputra, Subit Barua, Elaine M. Pereira, 2022, Cold Spring Harbor molecular case studies.

Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care

V. Jobanputra, C. von Kalle, S. Fröhling, 2022, JCO precision oncology.

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

V. Jobanputra, Yufeng Shen, Yujun Han, 2013, Proceedings of the National Academy of Sciences.

Analytical Demands to Use Whole-Genome Sequencing in Precision Oncology.

V. Jobanputra, O. Elemento, C. Caldas, 2021, Seminars in cancer biology.

Effect of Chemotherapy on Semen in Chronic Myeloid Leukemia ( CML ) Patients

V. Jobanputra, Kucheria, 2004 .

The genetic landscape of dural marginal zone lymphomas

V. Jobanputra, E. Jaffe, L. Cascione, 2016, Oncotarget.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

B. Yamrom, J. Kendall, A. Leotta, 2013, Human Genetics.

Molecular genetics of schizophrenia: a critical review.

V. Jobanputra, H. Pal, N. Berry, 2003, Journal of psychiatry & neuroscience : JPN.

Copy-number disorders are a common cause of congenital kidney malformations.

Stephan J Sanders, V. Jobanputra, W. Chung, 2012, American journal of human genetics.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

V. Jobanputra, D. Goldstein, S. Mane, 2021, American journal of human genetics.

Detection of chromosomal abnormalities using fluorescence in situ hybridization (FISH).

V. Jobanputra, K. Kucheria, V. Choudhry, 1998, National Medical Journal of India.

Langerhans Cell Histiocytosis: Diagnosis on Thyroid Aspirate and Review of the Literature

V. Jobanputra, A. Saqi, G. Bhagat, 2015, Head and Neck Pathology.

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.

V. Jobanputra, K. Wrzeszczynski, A. Abhyankar, 2020, The Journal of molecular diagnostics : JMD.

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

J. Sebat, J. Troge, V. Jobanputra, 2005, Genetics in Medicine.

Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology.

V. Jobanputra, O. Elemento, C. Caldas, 2021, Seminars in cancer biology.

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma

Ajay K. Royyuru, Vladimir Vacic, Laxmi Parida, 2017, Neurology: Genetics.

Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma

Vanessa V. Michelini, V. Jobanputra, R. Darnell, 2019, Cold Spring Harbor molecular case studies.

High‐resolution genomic alterations in Barrett's metaplasia of patients who progress to esophageal dysplasia and adenocarcinoma

V. Jobanputra, J. Davison, C. Lightdale, 2019, International journal of cancer.

The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes

V. Jobanputra, M. Berger, C. Iacobuzio-Donahue, 2016, Modern Pathology.

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole‐genome sequencing

V. Jobanputra, C. Morton, M. Talkowski, 2015, Prenatal diagnosis.

Prenatal detection of aneuploidies using fluorescencein situ hybridization: A preliminary experience in an Indian set up

V. Jobanputra, K. Kucheria, Kalol Kumar Roy, 2002, Journal of Biosciences.

Human molecular cytogenetics: diagnosis, prognosis, and disease management.

V. Jobanputra, T. A. Sivakumaran, K. Kucheria, 2003, Teratogenesis, carcinogenesis, and mutagenesis.

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

V. Jobanputra, B. Levy, K. Anyane-Yeboa, 2013, American journal of medical genetics. Part A.

The A-type cyclins and the meiotic cell cycle in mammalian male germ cells.

Vaidehi Jobanputra, V. Jobanputra, D. Wolgemuth, 2004, International journal of andrology.

Sequencing and curation strategies for identifying candidate glioblastoma treatments

Ajay K. Royyuru, Vladimir Vacic, Laxmi Parida, 2019, BMC Medical Genomics.

RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes

V. Jobanputra, K. Wrzeszczynski, G. Bhagat, 2021, Cancers.

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.

V. Jobanputra, R. Slim, S. Mount, 2013, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

Embryonic lethal genetic variants and chromosomally normal pregnancy loss

V. Jobanputra, B. Vardarajan, N. Sobreira, 2020, medRxiv.

Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens

V. Jobanputra, D. Warburton, J. Kline, 2011, Prenatal diagnosis.

Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions.

Vaidehi Jobanputra, V. Jobanputra, D. Warburton, 2002, Human reproduction.

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

V. Jobanputra, B. Levy, M. Macera, 2022, Frontiers in genetics.

Mosaic partial trisomy of chromosome 5 (q33-q ter) associated with fetal polycystic kidneys.

V. Jobanputra, K. Kucheria, A. Kriplani, 1998, Acta geneticae medicae et gemellologiae.

Clinical utility of whole-genome sequencing in precision oncology.

V. Jobanputra, O. Elemento, C. Caldas, 2021, Seminars in cancer biology.

Practical diagnostic approaches to composite plasma cell neoplasm and low grade B‐cell lymphoma/clonal infiltrates in the bone marrow

V. Jobanputra, M. Mansukhani, G. Bhagat, 2015, Hematological oncology.

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study

V. Jobanputra, W. Chung, A. Fyer, 2018, Journal of Genetic Counseling.

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Siobhan M. Dolan, V. Jobanputra, T. Bloom, 2020, Trials.

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

V. Jobanputra, D. Goldstein, S. Petrovski, 2019, The Lancet.

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

V. Jobanputra, S. Dimauro, J. Heymann, 2022, Cold Spring Harbor molecular case studies.

Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities.

V. Jobanputra, A. Abhyankar, V. Felice, 2018, Methods in molecular biology.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

V. Jobanputra, V. D’Agati, C. Antignac, 2018, Annals of Internal Medicine.

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

V. Jobanputra, I. Fennoy, K. Anyane-Yeboa, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Detection of mosaic variants using genome sequencing in a large pediatric cohort

V. Jobanputra, B. Gelb, E. Kenny, 2022, American journal of medical genetics. Part A.

eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing

V. Jobanputra, C. Cunningham-Rundles, E. Kenny, 2022, Genetics in Medicine.

Best practices for the interpretation and reporting of clinical whole genome sequencing

David R. Murdock, Denise L. Perry, V. Jobanputra, 2022, NPJ genomic medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

V. Jobanputra, A. Christiano, B. Levy, 2014, PLoS genetics.

Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing

Joshua E. Motelow, V. Jobanputra, J. Motelow, 2023, Schizophrenia Research.

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.

A unique case of der(11)t(11;22),‐22 arising from 3:1 segregation of a maternal t(11;22) in a family with co‐segregation of the translocation and breast cancer

V. Jobanputra, W. Chung, D. Warburton, 2005, Prenatal diagnosis.

Metastatic pediatric sclerosing epithelioid fibrosarcoma

V. Jobanputra, J. Collier, K. Wrzeszczynski, 2021, Cold Spring Harbor molecular case studies.

Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms

Michael C. Zody, Kanika Arora, Vaidehi Jobanputra, 2019, Scientific Reports.

Implementation of Rapid Genome Sequencing for Infants with Congenital Heart Disease

V. Jobanputra, S. Guha, V. Okur, 2022, medRxiv.

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

V. Jobanputra, D. Warburton, B. Levy, 2009, American journal of medical genetics. Part A.

Copy Number Changes on the X Chromosome in Women with and without Highly Skewed X-Chromosome Inactivation

V. Jobanputra, B. Levy, J. Kline, 2012, Cytogenetic and Genome Research.

Duplication of the ZIC2 gene is not associated with holoprosencephaly

V. Jobanputra, P. Warburton, B. Levy, 2012, American journal of medical genetics. Part A.

GenomeDiver: A platform for phenotype-guided medical genomic diagnosis.

N. Pearson, C. Stolte, K. Shi, 2020, Genetics in Medicine.

3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

V. Jobanputra, B. Levy, K. Anyane-Yeboa, 2022, Molecular cytogenetics.

3q27.1 Microdeletion Causes a Clinically Recognizable Syndrome Characterized by Severe Prenatal and Postnatal Growth Restriction and Neurodevelopmental Abnormalities

V. Jobanputra, B. Levy, K. Anyane-Yeboa, 2021 .

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Christie M. Buchovecky, V. Jobanputra, S. Tsang, 2020, Orphanet Journal of Rare Diseases.

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

V. Jobanputra, A. Abhyankar, M. Lamendola-Essel, 2017, Clinical case reports.

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

V. Jobanputra, C. Marshall, E. Ashley, 2020, Genome Medicine.

New Developments in Molecular Diagnosis of Neuromuscular Disorders

V. Jobanputra, A. Naini, 2014 .

The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

V. Jobanputra, C. Cunningham-Rundles, B. Gelb, 2023, Pilot and Feasibility Studies.

Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study

V. Jobanputra, Yufeng Shen, J. Newburger, 2023, Circulation. Genomic and precision medicine.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, medRxiv.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

V. Jobanputra, V. D’Agati, S. Zacharoulis, 2022, Kidney international reports.

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

V. Jobanputra, K. Anyane-Yeboa, Ashley L. Wilson, 2015, American journal of medical genetics. Part A.

148: Increased nuchal translucency and normal karyotype: value of additional testing

V. Jobanputra, S. Bale, V. Aggarwal, 2014 .

Sequencing and curation strategies for identifying candidate glioblastoma treatments

Ewa A. Bergmann, Vanessa V. Michelini, V. Jobanputra, 2019, BMC Medical Genomics.

Peripheral T-cell lymphoma emerging in a patient with aggressive polymyositis: molecular evidence for neoplastic transformation of an oligoclonal T-cell infiltrate

V. Jobanputra, M. Mansukhani, G. Bhagat, 2013, Acta Neuropathologica.

CD19-negative B-lymphoblastic leukemia associated with hypercalcemia, lytic bone lesions and aleukemic presentation

V. Jobanputra, G. Bhagat, B. Alobeid, 2015, Leukemia & lymphoma.

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

V. Jobanputra, V. D’Agati, A. Abhyankar, 2023, Kidney international reports.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Siobhan M. Dolan, V. Jobanputra, T. Bloom, 2021, Trials.

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

V. Jobanputra, A. Abhyankar, B. Gelb, 2023, Clinical genetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics

V. Jobanputra, T. A. Sivakumaran, K. Kucheria, 2002 .

New Mitochondrial Disease Identified In Monozygotic Twin Boys

V. Jobanputra, R. Happle, B. Gelb, 2023, American journal of medical genetics. Part A.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

Christie M. Buchovecky, V. Jobanputra, M. Ganapathi, 2022, Cold Spring Harbor molecular case studies.

Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests

V. Jobanputra, C. Marshall, H. Rehm, 2022, medRxiv.

Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

V. Jobanputra, A. Abhyankar, S. Phadke, 2023, Circulation. Genomic and precision medicine.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

B. Yamrom, J. Kendall, A. Leotta, 2013, Human Genetics.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.