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| 36937957 | Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient with <i>CHEK2</i> mutation. | Front Pediatr | 2023 |
| 37203791 | Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion. | J Pathol | 2023 |
| 36937957 | Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient with <i>CHEK2</i> mutation. | Front Pediatr | 2023 |
| 36609372 | 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. | J Neurosurg Pediatr | 2023 |
| 37203791 | Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion. | J Pathol | 2023 |
| 36609372 | 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. | J Neurosurg Pediatr | 2023 |
| 35467433 | Comfort with Pharmacogenetic Testing Amongst Pediatric Oncology Providers and Their Patients. | J Pediatr Hematol Oncol Nurs | 2022 |
| 35500208 | Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor. | J Clin Oncol | 2022 |
| 35467433 | Comfort with Pharmacogenetic Testing Amongst Pediatric Oncology Providers and Their Patients. | J Pediatr Hematol Oncol Nurs | 2022 |
| 35500208 | Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor. | J Clin Oncol | 2022 |
| 33179831 | Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents. | J Genet Couns | 2021 |
| 33786339 | Atypical Presentations among Older Adults with COVID-19 Disease: A Need for Broadening the Differential Diagnosis. | Gerontol Geriatr Med | 2021 |
| 33179831 | Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents. | J Genet Couns | 2021 |
| 33786339 | Atypical Presentations among Older Adults with COVID-19 Disease: A Need for Broadening the Differential Diagnosis. | Gerontol Geriatr Med | 2021 |
| 30969264 | A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient. | J Pediatr Hematol Oncol | 2020 |
| 32010615 | Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings. | Front Oncol | 2020 |
| 30969264 | A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient. | J Pediatr Hematol Oncol | 2020 |
| 32010615 | Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings. | Front Oncol | 2020 |
| 30824630 | DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies-Response. | Clin Cancer Res | 2019 |
| 30824630 | DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies-Response. | Clin Cancer Res | 2019 |
| 29343557 | <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. | Clin Cancer Res | 2018 |
| 29343557 | <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. | Clin Cancer Res | 2018 |
| 29037807 | DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry. | Gynecol Oncol | 2017 |
| 28357779 | A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes. | J Genet Couns | 2017 |
| 29037807 | DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry. | Gynecol Oncol | 2017 |
| 28357779 | A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes. | J Genet Couns | 2017 |
| 27258033 | Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication. | J Pediatr Hematol Oncol | 2016 |
| 27258033 | Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication. | J Pediatr Hematol Oncol | 2016 |
| 21793738 | A mosaic activating mutation in AKT1 associated with the Proteus syndrome. | N Engl J Med | 2011 |
| 21793738 | A mosaic activating mutation in AKT1 associated with the Proteus syndrome. | N Engl J Med | 2011 |
| 20672375 | Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. | Hum Mutat | 2010 |
| 20672375 | Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. | Hum Mutat | 2010 |
| 18632939 | Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans. | J Neurosci | 2008 |
| 18632939 | Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans. | J Neurosci | 2008 |
| 17098889 | Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. | J Med Genet | 2007 |
| 17702022 | Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. | Am J Med Genet A | 2007 |
| 17963221 | Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. | Am J Med Genet A | 2007 |
| 17098889 | Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. | J Med Genet | 2007 |
| 17963221 | Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. | Am J Med Genet A | 2007 |
| 17702022 | Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. | Am J Med Genet A | 2007 |
| 15739154 | Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. | Am J Hum Genet | 2005 |
| 15660767 | Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. | Epilepsia | 2005 |
| 15858474 | Evolution of skin lesions in Proteus syndrome. | J Am Acad Dermatol | 2005 |
| 15739154 | Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. | Am J Hum Genet | 2005 |
| 15858474 | Evolution of skin lesions in Proteus syndrome. | J Am Acad Dermatol | 2005 |
| 15660767 | Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. | Epilepsia | 2005 |
| 14708104 | Gonadal mosaicism in severe Pallister-Hall syndrome. | Am J Med Genet A | 2004 |
| 15266619 | A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? | Am J Med Genet A | 2004 |
| 15372514 | Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. | Am J Med Genet A | 2004 |
| 15256628 | Radiologic manifestations of Proteus syndrome. | Radiographics | 2004 |