T. Sahoo

发表

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

J. Church, N. Hauser, C. Strom, 2014, European Journal of Human Genetics.

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

J. Bressler, L. Shaffer, A. Beaudet, 2004, American journal of medical genetics. Part A.

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

P. Stankiewicz, A. C. Chinault, Ankita Patel, 2006, Genetics in Medicine.

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

C. Shaw, A. Beaudet, S. Waisbren, 2007, European Journal of Human Genetics.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Denise L. Perry, S. S. Ajay, D. Bentley, 2018, Genetics in Medicine.

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

R. Finnell, P. Moretti, N. Blau, 2005, Neurology.

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

S. Lalani, B. Bejjani, T. Sahoo, 2006, BMC Medical Genetics.

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

B. Torchia, L. Shaffer, B. Bejjani, 2011, American journal of medical genetics. Part A.

Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis

L. Shaffer, B. Ballif, M. Slovak, 2011, Molecular Cytogenetics.

Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

P. Moretti, C. Bacino, F. Scaglia, 2008, Journal of autism and developmental disorders.

BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease

T. Sahoo, Wanlong Ma, S. Agersborg, 2012, Molecular Cytogenetics.

Creatine metabolism in combined methylmalonic aciduria and homocystinuria

A. Beaudet, W. O'Brien, F. Scaglia, 2005, Annals of neurology.

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome

Ankita Patel, A. Beaudet, C. Skinner, 2012, American journal of medical genetics. Part A.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, Ankita Patel, 2010 .

Microarray-based comparative genomic hybridization testing in deletion-bearing Angelman Syndrome patients: Genotype-phenotype correlations.

C. Bacino, T. Sahoo, S. Peters, 2005 .

Atypical cases of Angelman syndrome

Bai-Lin Wu, V. Kimonis, T. Sahoo, 2006, American journal of medical genetics. Part A.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

T. Liehr, P. Sanchez-Lara, Jia-Chi Wang, 2014, European Journal of Human Genetics.

Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes

U. Surti, T. Sahoo, R. Slim, 2019, Modern Pathology.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

T. Dudding-Byth, T. Sahoo, R. Slim, 2018, Modern Pathology.

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Jing Liu, T. Sahoo, M. Zenker, 2020, Clinical dysmorphology.

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS‐like phenotype

Jia-Chi Wang, Leslie P Ross, R. Owen, 2013, American journal of medical genetics. Part A.

A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

A. Beaudet, S. Waisbren, S. Skinner, 2011, American journal of medical genetics. Part A.

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

J. Rosenfeld, R. Tervo, B. Torchia, 2011, Molecular Syndromology.

Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases

C. Strom, Jia-Chi Wang, Leslie P Ross, 2014, Genetics in Medicine.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

Ankita Patel, Marwan Shinawi, Ankita Patel, 2011, American journal of medical genetics. Part A.

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

R. Owen, T. Sahoo, V. Pulijaal, 2012, Molecular Cytogenetics.

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

J. Majewski, T. Sahoo, R. Slim, 2018, American journal of human genetics.

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

P. Stankiewicz, L. Shao, Ankita Patel, 2008, American journal of medical genetics. Part A.

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

Z. Ou, P. Stankiewicz, M. L. Cooper, 2007, PloS one.

15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization

S. Cheung, N. Brunetti‐Pierri, C. Chinault, 2008, American journal of medical genetics. Part A.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

P. Stankiewicz, P. Stankiewicz, Ankita Patel, 2008, Pediatrics.

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

D. J. Driscoll, A. Beaudet, T. Sahoo, 2011, European Journal of Human Genetics.

Array‐based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

C. Shaw, A. Beaudet, R. Stevenson, 2005, American journal of medical genetics. Part A.

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

A. Beaudet, L. Bird, C. Bacino, 2005, Journal of Medical Genetics.

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

J. Rosenfeld, L. Shaffer, B. Ballif, 2010, European Journal of Human Genetics.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Marwan Shinawi, S. Cheung, A. Beaudet, 2008, Nature Genetics.

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation

P. Stankiewicz, J. Lupski, T. Liehr, 2006, American journal of medical genetics. Part A.

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

J. Rosenfeld, B. Torchia, L. Shaffer, 2010, Genetics in Medicine.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array‐comparative genomic hybridization

J. Wiszniewska, A. Beaudet, Yaping Yang, 2008, Human mutation.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

A. C. Chinault, Ankita Patel, J. Lupski, 2008, Journal of Medical Genetics.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Increased LIS1 expression affects human and mouse brain development

K. Gunderson, J. Lupski, S. Cheung, 2009, Nature Genetics.

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

P. Stankiewicz, Ankita Patel, C. Shaw, 2007, American journal of medical genetics. Part A.

Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features

T. Sahoo, Jia-chi Wang, Thomas Fisker, 2015, American journal of medical genetics. Part A.

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

Bassem A Bejjani, Lisa G Shaffer, J. Rosenfeld, 2011, Genetics in Medicine.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

P. Stankiewicz, Ankita Patel, J. Lupski, 2009, Journal of Medical Genetics.

Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges

T. Sahoo, M. Stephenson, M. Strecker, 2016, Genetics in Medicine.

Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory

Jia-Chi Wang, R. Owen, Boris T Wang, 2014, Molecular Cytogenetics.

The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages.

S. Aradhya, T. Sahoo, R. Slim, 2022, Reproductive biomedicine online.

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

L. D. White, A. Breman, Ankita Patel, 2008, Prenatal diagnosis.

Mosaic deletion 11p13 in a child with dopamine beta‐hydroxylase deficiency—Case report and review of the literature

Z. Ou, M. L. Cooper, S. Cheung, 2010, American journal of medical genetics. Part A.

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

S. Cheung, D. M. Martin, S. Gebarski, 2009, American journal of medical genetics. Part A.

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]

F. Scaglia, T. Sahoo, R. Naeem, 2004, American journal of medical genetics. Part A.

Angelman syndrome: Mutations influence features in early childhood

A. Beaudet, S. Waisbren, Hye-Seung Lee, 2011, American journal of medical genetics. Part A.

Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results

Z. Ou, P. Stankiewicz, M. L. Cooper, 2010, American journal of medical genetics. Part A.

A patient with isochromosome 18q, radial‐thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

M. Gambello, C. Bacino, T. Sahoo, 2005, American journal of medical genetics. Part A.

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical Genetics.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

P. Stankiewicz, E. Roeder, S. Cheung, 2010, European Journal of Human Genetics.

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

J. Rosenfeld, B. Torchia, L. Shaffer, 2011, European Journal of Human Genetics.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay

J. Rosenfeld, R. Tervo, B. Torchia, 2011, American journal of medical genetics. Part A.

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

A. Beaudet, S. Waisbren, Hye-Seung Lee, 2010, Journal of developmental and behavioral pediatrics : JDBP.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

Jia-Chi Wang, R. Owen, M. Haddadin, 2013, Molecular Cytogenetics.

The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype–phenotype correlations

Marwan Shinawi, A. Beaudet, M. Shinawi, 2009, Autism research : official journal of the International Society for Autism Research.

Coarctation of the aorta and mild developmental delay in a child with a de novo deletion of 15 ( q 21 . 2 q 22 . 1 )

S. Lalani, B. Bejjani, T. Sahoo, 2005 .

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Stephen Tanner, Tina Hambuch, Sergii Ivakhno, 2018, bioRxiv.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

D. Bentley, M. Eberle, J. Belmont, 2018, Genetics in Medicine.

Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern?

T. Sahoo, M. Strecker, N. Dzidic, 2016, Genetics in Medicine.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

Jia-Chi Wang, R. Owen, M. Haddadin, 2013, Molecular Cytogenetics.

Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.

D. J. Driscoll, A. Beaudet, D. Theriaque, 2006, The Journal of pediatrics.

Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies

A. Pang, A. Hastie, G. Raca, 2022, medRxiv.

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

T. Sahoo, M. Strecker, N. Dzidic, 2018, Prenatal diagnosis.