Joyce T. Turner

发表

Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)

L. Biesecker, W. Theodore, J. Johnston, 2005 .

Atypical Presentations among Older Adults with COVID-19 Disease: A Need for Broadening the Differential Diagnosis

Joyce T. Turner, U. Ohuabunwa, T. Johnson, 2021, Gerontology & geriatric medicine.

Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents

C. Porter, C. Bellcross, Joyce T. Turner, 2020, Journal of genetic counseling.

Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases

L. Biesecker, Joyce T. Turner, M. Cohen, 2004, American journal of medical genetics. Part A.

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies

Gretchen M. Williams, D. Malkin, K. Schneider, 2018, Clinical Cancer Research.

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies—Response

D. Malkin, A. L. Frazier, D. Orbach, 2019, Clinical Cancer Research.

DENYS–DRASH SYNDROME, FRASIER SYNDROME, AND WAGR SYNDROME ( WT1 ‐RELATED DISORDERS)

J. Dome, Joyce T. Turner, 2021 .

Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor.

J. Dome, D. A. Hill, Joyce T. Turner, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient

Shana Jacobs, G. Okoye, Joyce T. Turner, 2019, Journal of pediatric hematology/oncology.

Comfort with Pharmacogenetic Testing Amongst Pediatric Oncology Providers and Their Patients

Jiaxiang Gai, Shana Jacobs, Joyce T. Turner, 2022, Journal of pediatric hematology/oncology nursing.

Radiologic manifestations of Proteus syndrome.

P. Choyke, L. Biesecker, C. Jamis-Dow, 2004, Radiographics : a review publication of the Radiological Society of North America, Inc.

Evolution of skin lesions in Proteus syndrome.

L. Biesecker, T. Darling, Joyce T. Turner, 2005, Journal of the American Academy of Dermatology.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

PTEN mutations and Proteus syndrome

L. Biesecker, M. Cohen, S. Vacha, 2001, The Lancet.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes : Robust Phenotype Prediction from the Type and Position of GLI 3 Mutations

E. Zackai, L. Biesecker, J. Graham, 2005 .

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp, L. Biesecker, J. M. van de Kamp, 2007, American journal of medical genetics. Part A.

Gonadal mosaicism in severe Pallister–Hall syndrome

L. Biesecker, W. Theodore, J. Johnston, 2004, American journal of medical genetics. Part A.

Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.

L. Biesecker, C. Olsen, T. Darling, 2004, Archives of dermatology.

Proteus syndrome: Misdiagnosis with PTEN mutations

L. Biesecker, M. Cohen, Joyce T. Turner, 2003, American journal of medical genetics. Part A.

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

S. Scollon, Joyce T. Turner, K. Wolfe Schneider, 2017, Journal of Genetic Counseling.

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model

Gretchen M. Williams, J. Ivanovich, P. Goodfellow, 2018, F1000Research.

Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

Gretchen M. Williams, J. Ivanovich, P. Goodfellow, 2015, F1000Research.

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: Genetic heterogeneity of McKusick–Kaufman syndrome or a unique syndrome?

A. Dutra, L. Biesecker, A. Slavotinek, 2004, American journal of medical genetics. Part A.

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings

E. Vilain, R. Packer, Cheng-Ying Ho, 2020, Frontiers in Oncology.

Jubilee Brown, A. L. Frazier, D. Gershenson, 2017, Gynecologic oncology.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

L. Biesecker, J. Johnston, L. Bird, 2003, American journal of medical genetics. Part A.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

J. Ellison, P. Meltzer, S. Davis, 2006, Journal of Medical Genetics.

Surveillance imaging and early surgical intervention for improved CNS tumor outcomes in children with Li-Fraumeni syndrome: Children's National Hospital experience and literature review.

Surajit Bhattacharya, R. Packer, R. Keating, 2023, Journal of neurosurgery. Pediatrics.

Reply to Kirk et al.

L. Biesecker, Joyce T. Turner, M. Cohen, 2004 .

Hedgehog Signaling Regulates Sensory Cell Formation and Auditory Function in Mice and Humans

L. Biesecker, A. Griffith, M. Kelley, 2008, The Journal of Neuroscience.

Radiologic of Proteus Syndrome 1

P. Choyke, L. Biesecker, C. Jamis-Dow, 2004 .

Hypothalamic Hamartomas and Seizures: Distinct Natural History of Isolated and Pallister‐Hall Syndrome Cases

L. Biesecker, W. Theodore, N. Patronas, 2005, Epilepsia.

Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion

Surajit Bhattacharya, E. Vilain, R. Packer, 2023, The Journal of pathology.

Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient with CHEK2 mutation

A. Angiolillo, Jinjun Cheng, D. Jacobsohn, 2023, Frontiers in Pediatrics.

Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication

Baheyeldin Salem, Joyce T. Turner, S. Hofherr, 2016, Journal of pediatric hematology/oncology.

The DICER1 syndrome: Genotype-phenotype correlation in PPB patients.

Gretchen M. Williams, D. Stewart, Y. Messinger, 2015 .

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Julie C. Sapp, J. Mullikin, S. Wientroub, 2011, The New England journal of medicine.

Proteus syndrome: Misdiagnosis with PTEN mutations

L. Biesecker, Joyce T. Turner, M. Cohen, 2003, American journal of medical genetics. Part A.