S. Plon

发表

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Magalie S Leduc, J. Lupski, R. Gibbs, 2013, The New England journal of medicine.

Framework for microRNA variant annotation and prioritization using human population and disease datasets

D. Wheeler, L. Ding, S. Plon, 2018, Human mutation.

Abrogation of the G2 checkpoint results in differential radiosensitization of G1 checkpoint-deficient and G1 checkpoint-competent cells.

M. Groudine, K. Russell, S. Plon, 1995, Cancer research.

A brief history of human disease genetics

Mark I. McCarthy, Heidi L. Rehm, Jay Shendure, 2020, Nature.

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

ClinGen--the Clinical Genome Resource.

Heidi L Rehm, Jonathan S Berg, Stephen T Sherry, 2015, The New England journal of medicine.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Responsibility, culpability, and parental views on genomic testing for seriously ill children

D. Parsons, A. McGuire, S. Plon, 2019, Genetics in Medicine.

Next-generation sequencing in the clinic: are we ready?

I. Kohane, L. Biesecker, S. Plon, 2012, Nature Reviews Genetics.

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

A. Spurdle, W. Foulkes, D. Easton, 2008, Human mutation.

Pathogenic Germline Variants in 10,389 Adult Cancers.

Steven J. M. Jones, Benjamin J. Raphael, Joshua F. McMichael, 2018, Cell.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Germline mutations in shelterin complex genes are associated with familial glioma.

R. Gibbs, K. Aldape, D. Muzny, 2015, Journal of the National Cancer Institute.

Family‐based exome‐wide assessment of maternal genetic effects on susceptibility to childhood B‐cell acute lymphoblastic leukemia in hispanics

S. Plon, Jun J. Yang, M. Scheurer, 2016, Cancer.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Robert C. Green, Heidi L. Rehm, Levi Garraway, 2013, Genetics in Medicine.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Heidi L. Rehm, Erin Rooney Riggs, 2017, bioRxiv.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

Ancestry-specific predisposing germline variants in cancer

Jeffrey S. Damrauer, Rosalyn W. Sayaman, Christopher K. Wong, 2020, Genome Medicine.

Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.

A. Chinnaiyan, D. Parsons, S. Plon, 2016, Journal of the National Cancer Institute.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

A Risky Business--Assessing Breast Cancer Risk

S. Plon, E. Levy-Lahad, 2003, Science.

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives

Tao Wang, P Adam Kelly, P. A. Kelly, 2011, Genetics in Medicine.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Shawn Rynearson, Heidi L. Rehm, Aleksandar Milosavljevic, 2017, Genome Medicine.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Updated recommendation for the benign stand‐alone ACMG/AMP criterion

Heidi L Rehm, Leslie G Biesecker, H. Rehm, 2018, Human mutation.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Carla Oliveira, Rachid Karam, Chimene Kesserwan, 2018, Human mutation.

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Robert Huether, Rachid Karam, Charis Eng, 2018, Human mutation.

Multiple tumors in a child with germ-line mutations in TP53 and PTEN.

M. Hegde, S. Agrawal, S. Plon, 2008, The New England journal of medicine.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Tao Wang, Katie Bergstrom, Amy L McGuire, 2016, JAMA oncology.

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

D. Parsons, S. Plon, Angshumoy Roy, 2019, Cold Spring Harbor molecular case studies.

Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients

Chad A Shaw, Eric Boerwinkle, Fan Xia, 2015, Genetics in Medicine.

Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents

S. Plon, Yiqun Zhang, Hao Liu, 2008, Human Genetics.

The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics

Vence L Bonham, Stephanie M Fullerton, Lucia A Hindorff, 2018, bioRxiv.

The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics

C. Bustamante, S. Fullerton, A. Popejoy, 2018, bioRxiv.

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Robert C. Green, Heidi L. Rehm, Jonathan S. Berg, 2012, Genetics in Medicine.

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

B. Knoppers, Y. Bombard, S. Plon, 2018, Genetics in Medicine.

A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels.

D. Parsons, S. Plon, Angshumoy Roy, 2022, The Journal of molecular diagnostics : JMD.

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

John F. Magnotti, H. Zoghbi, Zhandong Liu, 2019, Proceedings of the National Academy of Sciences.

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

John F. Magnotti, H. Zoghbi, Zhandong Liu, 2019, Proceedings of the National Academy of Sciences.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Landscape of human miRNA variation and conservation using Annotative Database of miRNA Elements, ADmiRE

S. Plon, Ninad Oak, R. Ghosh, 2017, bioRxiv.

Male Sex and the Risk of Childhood Cancer: The Mediating Effect of Birth Defects

Tania A Desrosiers, S. Plon, W. Nembhard, 2020, JNCI cancer spectrum.

Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births.

Tania A Desrosiers, Austin L. Brown, Amanda E. Janitz, 2019, JAMA oncology.

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

Julie O. Culver, F. Couch, A. Spurdle, 2018, npj Genomic Medicine.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

T. Druley, R. Hennekam, S. Plon, 2017, Clinical Cancer Research.

Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium

R. Gibbs, K. Aldape, D. Muzny, 2015, Scientific Reports.

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

D. Evans, S. Plon, H. Scott, 2017, Clinical Cancer Research.

The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated with an Aggressive Tumor Phenotype

S. Plon, 2010 .

Ancestry-specific predisposing germline variants in cancer

Joshua M. Stuart, Jeffrey S. Damrauer, Rosalyn W. Sayaman, 2020, bioRxiv.

Current Controversies in Prenatal Diagnosis 2: NIPT results suggesting maternal cancer should always be disclosed

S. Plon, D. Bianchi, P. Benn, 2018, Prenatal diagnosis.

Long-term risk of medical conditions associated with breast cancer treatment

L. Strong, J. Berg, C. Isaacs, 2014, Breast Cancer Research and Treatment.

Cancer diagnostic profile in children with structural birth defects: An assessment in 15,000 childhood cancer cases

Tania A Desrosiers, S. Rasmussen, S. Plon, 2020, Cancer.

Screening for 1 85delAG in the Ashkenazim

P. Ward, S. Plon, B. Roa, 2006 .

PMS2 monoallelic mutation carriers: the known unknown

Aung Ko Win, C. Boland, S. Thibodeau, 2015, Genetics in Medicine.

BRCA1/2 population screening: embracing the benefits.

S. Plon, 2015, Current oncology.

FBN1 exon 2 splicing error in a patient with Marfan syndrome.

D. Milewicz, S. Plon, D. Guo, 2001, American journal of medical genetics.

A Homozygous Mutation in MSH6 Causes Turcot Syndrome

C. Richards, M. Hegde, P. Ward, 2005, Clinical Cancer Research.

Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling.

R. Gibbs, D. Muzny, D. Parsons, 2021, JCO precision oncology.

Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim

C. Richards, S. Plon, L. C. Friedman, 1999, Genetics in Medicine.

Screening for 185delAG in the Ashkenazim.

C. Richards, P. Ward, S. Plon, 1997, American journal of human genetics.

Childhood cancer risk in those with chromosomal and non-chromosomal congenital anomalies in Washington State: 1984-2013

S. Plon, Heather E. Danysh, S. Carozza, 2017, PloS one.

Retinoblastoma: review of current management.

S. Plon, P. Chévez-Barrios, M. Chintagumpala, 2007, The oncologist.

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

K. Offit, S. Kulkarni, S. Plon, 2019, Cold Spring Harbor molecular case studies.

FOCAD Indel in a Family With Juvenile Polyposis Syndrome

S. Plon, G. Brodeur, S. Scollon, 2022, Journal of pediatric gastroenterology and nutrition.

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

S. Plon, J. G. Teodoro, Philippe M. Campeau, 2019, American journal of human genetics.

Unravelling immunoglobulin expression

M. Groudine, S. Plon, 1991, Current Biology.

Parent decision‐making around the genetic testing of children for germline TP53 mutations

A. Patenaude, J. Garber, S. Plon, 2015, Cancer.

Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma

J. Lupski, S. Plon, Hannah C. Cheung, 2012, Pediatric blood & cancer.

The mutation spectrum in RECQL4 diseases

R. Hennekam, S. Plon, A. Verloes, 2009, European Journal of Human Genetics.

APhase 1 Study of the Proteasome Inhibitor Bortezomib in Pediatric Patients with Refractory Leukemia : a Children ’ s Oncology Group Study

S. Plon, P. Adamson, J. Wright, 2007 .

A Phase 1 Study of the Proteasome Inhibitor Bortezomib in Pediatric Patients with Refractory Leukemia: a Children's Oncology Group Study

S. Plon, P. Adamson, J. Wright, 2007, Clinical Cancer Research.

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

D. Lev, S. Plon, M. Chintagumpala, 2001, American journal of medical genetics.

The Ancestral Pace of Variant Reclassification

H. Rehm, S. Plon, 2018 .

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

D. Wheeler, D. Parsons, R. Person, 2016, Cold Spring Harbor molecular case studies.

Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia

S. Plon, K. Leung, S. Mukhopadhyay, 2006, The Journal of cell biology.

Outcomes of integrating genetics in management of patients with retinoblastoma.

C. Noll, S. Plon, P. Chévez-Barrios, 2011, Archives of ophthalmology.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

The Future of Surveillance in the Context of Cancer Predisposition: Through the Murky Looking Glass

S. Plon, J. Schiffman, D. Malkin, 2017, Clinical Cancer Research.

50 Years Ago in The Journal of Pediatrics: Adrenocortical Neoplasms with Hemihypertrophy, Brain Tumors, and Other Disorders.

D. Parsons, S. Plon, Emily B. Heikamp, 2017, The Journal of pediatrics.

Clinical and molecular features of pediatric cancer patients with Lynch syndrome

R. Gibbs, D. Muzny, D. Parsons, 2021, Pediatric blood & cancer.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Genetic Screens in Yeast to Identify BRCA1 Modifiers

S. Plon, 2005 .

Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists.

C. Shields, B. Gallie, S. Plon, 2018, Ophthalmology.

leukemia caused by constitutional microdeletions on chromosome 21q Syndromic thrombocytopenia and predisposition to acute myelogenous

A. C. Chinault, S. Cheung, S. Plon, 2013 .

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

A. C. Chinault, S. Cheung, S. Plon, 2008, Blood.

Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome

S. Plon, A. Bertuch, Ghadir S. Sasa, 2020, Leukemia.

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Ying Wang, Christopher C. Porter, Anna L. Brown, 2019, Blood advances.

Unusually Early Presentation of Small-Bowel Adenocarcinoma in a Patient With Peutz-Jeghers Syndrome

Michael F. Wangler, M. Hegde, S. Plon, 2013, Journal of pediatric hematology/oncology.

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

H. Rehm, J. Berg, S. Plon, 2018, Human Mutation.

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

R. Gibbs, D. Muzny, L. Lewis, 2011, Cancer genetics.

Generalized metabolic bone disease in Neurofibromatosis type I.

Alyssa A. Tran, N. Brunetti‐Pierri, R. Lewis, 2008, Molecular genetics and metabolism.

The involvement of human RECQL4 in DNA double‐strand break repair

S. Plon, P. Karmakar, V. Bohr, 2010, Aging cell.

Pediatric Oncologists’ Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care

D. Parsons, A. McGuire, R. Street, 2021, Journal of personalized medicine.

Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer

A. Sigurdson, R. Lewis, S. Plon, 2001, Genetic epidemiology.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

S. Brenner, H. Rehm, P. Radivojac, 2022, American journal of human genetics.

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

A. Spurdle, Kristy Lee, S. Plon, 2022, Journal of Medical Genetics.

Severe therapy‐related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres

S. Plon, A. Bertuch, C. Dinardo, 2019, Pediatric blood & cancer.

Expression and Localization of the CDC 34 Ubiquitin-conjugating Enzyme in Pediatric Acute Lymphoblastic Leukemia 1

S. Plon, A. Yu, S. Mohsin, 2001 .

Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.

S. Plon, S. Meshinchi, T. Alonzo, 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The nature of the binuclear copper site in Limulus and other hemocyanins.

S. Plon, E. Solomon, D. Wilcox, 1982, Progress in clinical and biological research.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Donna M. Muzny, Yan Ding, Eric Boerwinkle, 2017, The New England journal of medicine.

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

S. Plon, F. Scaglia, Brendan H. Lee, 2011, American journal of human genetics.

A brief history of human disease genetics

Judy H. Cho, M. McCarthy, D. MacArthur, 2020, Nature.

Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

Susan M. Chang, M. Berger, R. Elston, 2014, Neuro-oncology.

Inherited susceptibility for pediatric cancer.

K. Nathanson, S. Plon, 2005, Cancer journal.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Gunnar Rätsch, Brian Craft, David Haussler, 2018, PLoS genetics.

BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

F. Couch, S. Tavtigian, S. Plon, 2013, The oncologist.

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

K. Offit, S. Kulkarni, Kristy Lee, 2018, Human mutation.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

SV-STAT accurately detects structural variation via alignment to reference-based assemblies

Yan Ding, Donna M. Muzny, Hongmei Wang, 2016, Source Code for Biology and Medicine.

Phenotypic manifestations of copy number variation in chromosome 16p13.11

P. Stankiewicz, E. Roeder, Ankita Patel, 2011, European Journal of Human Genetics.

The use of psoralen-modified DNA to probe the mechanism of enhancer action

S. Plon, A. Courey, James C. Wang, 1986, Cell.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Lea M. Starita, Fergus J. Couch, Jonathan S. Berg, 2019, Genome Medicine.

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

O. Griffith, M. Tolstorukov, M. Griffith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Sharon E. Plon, Ninad Oak, S. Plon, 2017, Genome Biology.

Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profiles

N. Heerema, S. Plon, S. Hunger, 2011, Leukemia.

Locus‐specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

A. Spurdle, W. Foulkes, M. Olivier, 2008, Human mutation.

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant

S. Plon, Z. Stadler, R. Brand, 2020, Cancer Prevention Research.

Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood

W. Foulkes, D. Evans, K. Nathanson, 2017, Clinical Cancer Research.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing

R. Gibbs, D. Muzny, D. Wheeler, 2013, Pediatric blood & cancer.

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

Marek Kimmel, David A Wheeler, D. Wheeler, 2011, Human mutation.

Statistical Analysis of Missense Mutation Classifiers

M. Kimmel, S. Hicks, S. Plon, 2013, Human mutation.

Minichromosome maintenance protein MCM7 is a direct target of the MYCN transcription factor in neuroblastoma.

S. Plon, M. Brenner, J. Nuchtern, 2002, Cancer research.

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

B. Knoppers, Y. Bombard, S. Plon, 2018, Genetics in Medicine.

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

E. Jabs, Y. Gillerot, E. Chouery, 2005, Journal of Medical Genetics.

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

A. Spurdle, M. Olivier, Kristy Lee, 2020, medRxiv.

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Birgit Funke, William Craigen, Heidi L Rehm, 2018, Human mutation.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Screening and Clinical Implications for BRCA1 and BRCA2 Mutation Carriers

S. Plon, 1998, Journal of Mammary Gland Biology and Neoplasia.

Counseling the at risk patient in the BRCA1 and BRCA2 Era.

S. Plon, I. Barnes-Kedar, 2002, Obstetrics and gynecology clinics of North America.

Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes

L. Shaffer, C. Kashork, S. Plon, 2005, Genes, chromosomes & cancer.

Clinical utility of array comparative genomic hybridization for detection of chromosomal abnormalities in pediatric acute lymphoblastic leukemia

S. Plon, P. Rao, T. Man, 2008, Pediatric blood & cancer.

ClinGen Allele Registry links information about genetic variants

Aleksandar Milosavljevic, Piotr Pawliczek, Chris Bizon, 2018, Human mutation.

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

S. Plon, S. Savage, H. Scott, 2017, Clinical Cancer Research.

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, Nature Communications.

Severe dysplasia in children with familial adenomatous polyposis: rare or simply overlooked?

S. Plon, D. Wesson, M. Finegold, 2006, Journal of pediatric surgery.

Loss of Sin3/Rpd3 Histone Deacetylase Restores the DNA Damage Response in Checkpoint-Deficient Strains of Saccharomyces cerevisiae

S. Plon, K. Scott, 2003, Molecular and Cellular Biology.

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Rohini Rau-Murthy, Jinghui Zhang, Kenneth Offit, 2013, Nature Genetics.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

N. Risch, P. Kwok, S. Fullerton, 2018, American journal of human genetics.

Abstract 5359: Regulatory germline variants in 10,389 adult cancers

Kathleen E. Houlahan, Sheila M. Reynolds, M. Gerstein, 2018, Molecular and Cellular Biology / Genetics.

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

R. Gibbs, D. Wheeler, Yaping Yang, 2017, Pediatric blood & cancer.

BCOR-CCNB3 Fusions Are Frequent in Undifferentiated Sarcomas of Male Children

Donna M. Muzny, Sharon E. Plon, David A. Wheeler, 2014, Modern Pathology.

Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response.

S. Plon, K. Scott, Molly C. Kottemann, 2006, Cancer research.

Overexpression of ZNF342 by juxtaposition with MPO promoter/enhancer in the novel translocation t(17;19)(q23;q13.32) in pediatric acute myeloid leukemia and analysis of ZNF342 expression in leukemia

Nianxiang Zhang, E. Neeley, S. Plon, 2009, Genes, Chromosomes and Cancer.

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood

S. Plon, T. Frebourg, C. Kratz, 2017, Clinical Cancer Research.

Pediatric Rhabdomyosarcoma: Epidemiology and Genetic Susceptibility

S. Plon, P. Lupo, P. Weinstein, 2021, Journal of clinical medicine.

Somatic cancer variant curation and harmonization through consensus minimum variant level data

Subha Madhavan, Deborah I. Ritter, Shruti Rao, 2016, Genome Medicine.

Parental Perspectives on Whole Exome Sequencing in Pediatric Cancer: A Typology of Perceived Utility.

A. McGuire, S. Plon, J. Robinson, 2017, JCO precision oncology.

Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation

S. Plon, Angshumoy Roy, G. Tomlinson, 2019, Pediatric blood & cancer.

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

F. Couch, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings.

A. Chinnaiyan, S. Plon, Angshumoy Roy, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers

S. Hilsenbeck, S. Plon, S. Dhar, 2011, Breast Cancer Research and Treatment.

Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

C. Bustamante, S. Fullerton, K. Ormond, 2020, medRxiv.

Improvement of outcomes for TP53 carriers.

S. Plon, 2016, The Lancet. Oncology.

ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data

Jie Li, Marek Kimmel, Navin Rustagi, 2016, BMC Bioinformatics.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject

A. McGuire, S. Plon, L. Mccullough, 2015, Journal of Law, Medicine & Ethics.

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Marilyn M. Li, David T. Miller, K. Nathanson, 2020, Genetics in Medicine.

Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr

S. Plon, J. Schiffman, D. Malkin, 2017, Clinical Cancer Research.

Linking Sister Chromatid Cohesion and Apoptosis: Role of Rad21

S. Plon, Nenggang Zhang, D. Pati, 2002, Molecular and Cellular Biology.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2018, Genetics in Medicine.

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

R. Gibbs, S. Hilsenbeck, A. McGuire, 2014, Genome Medicine.

Key Implications of Data Sharing in Pediatric Genomics

Marc S. Williams, B. Knoppers, S. Terry, 2017, JAMA pediatrics.

Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research.

A. McGuire, S. Plon, J. Robinson, 2023, Journal of adolescent and young adult oncology.

Experiences and Attitudes of Genome Investigators Regarding Return of Individual Genetic Test Results

A. McGuire, S. Plon, S. Joffe, 2013, Genetics in Medicine.

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

F. Couch, A. Spurdle, W. Foulkes, 2018, npj Genomic Medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2022, Genome Medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2021, medRxiv.

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Deborah I. Ritter, Wigard P. Kloosterman, Stef van Lieshout, 2016, The Journal of clinical investigation.

Incidental copy-number variants identified by routine genome testing in a clinical population

P. Stankiewicz, Ankita Patel, C. Shaw, 2012, Genetics in Medicine.

Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.

C. Bult, P. Meltzer, P. Sorensen, 2016, Cancer genetics.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

E. Zackai, R. Lewis, D. Lev, 2003, Journal of the National Cancer Institute.

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome.

K. Worley, S. Plon, M. Chintagumpala, 2002, American journal of human genetics.

Disorders of DNA Repair and Metabolism

S. Plon, 2013 .

Cell cycle-dependent expression and nucleolar localization of hCAP-H.

O. A. Cabello, J. Belmont, S. Plon, 2001, Molecular biology of the cell.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Multiple Endocrine Neoplasia Type 1 Interacts with Forkhead Transcription Factor CHES 1 in DNA Damage Response

S. Plon, K. Scott, Molly C. Kottemann, 2006 .

Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney

D. Wheeler, Pavel Sumazin, H. Doddapaneni, 2015, Nature Communications.

ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines

A. Spurdle, S. Plon, X. Luo, 2021, medRxiv.

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Yanming Feng, Victor Wei Zhang, Lee-Jun C Wong, 2015, The Journal of molecular diagnostics : JMD.

Heterozygous Screen in Saccharomyces cerevisiae Identifies Dosage-Sensitive Genes That Affect Chromosome Stability

M. Kimmel, S. Plon, Xiaowei Wu, 2008, Genetics.

Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility

S. Plon, A. Wilkinson, M. Swartz, 2017, PloS one.

Germline pathogenic SMARCA4 variants in neuroblastoma

W. Foulkes, S. Plon, A. Bahrami, 2023, Journal of Medical Genetics.

Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing

Caleb F. Davis, R. Gibbs, D. Wheeler, 2014, Genetics in Medicine.

Transcription of the human β-globin gene is stimulated by an SV40 enhancer to which it is physically linked but topologically uncoupled

S. Plon, James C. Wang, 1986, Cell.

Hepatocellular carcinoma associated with tight‐junction protein 2 deficiency

Richard J. Thompson, Z. Niu, S. Plon, 2015, Hepatology.

Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia

N. Heerema, S. Plon, G. Basso, 2009, British journal of haematology.

Rothmund-Thomson Syndrome

S. Plon, Lisa L. Wang, 2016 .

Cloning of the human homolog of the CDC34 cell cycle gene by complementation in yeast.

M. Groudine, S. Plon, K. Leppig, 1993, Proceedings of the National Academy of Sciences of the United States of America.

The sequence of an adrenal specific human cDNA, pG2.

M. Israel, S. Plon, L. Helman, 1990, Nucleic acids research.

Returning genetic research results: study type matters.

Amy L McGuire, A. McGuire, S. Plon, 2013, Personalized medicine.

Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group.

Michael M. Khayat, R. Gibbs, E. Boerwinkle, 2020, Journal of the National Cancer Institute.

Unifying cancer genetics

S. Plon, 2011, Genetics in Medicine.

Reconstitution of a MEC1-independent checkpoint in yeast by expression of a novel human fork head cDNA

M. Groudine, S. Plon, D. Pati, 1997, Molecular and cellular biology.

Utilizing Saccharomyces cerevisiae to identify aneuploidy and cancer susceptibility genes.

S. Plon, Erin D. Strome, 2010, Methods in molecular biology.

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

Heidi L. Rehm, Danielle R. Azzariti, Erin M. Ramos, 2018, Genetics in Medicine.

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Ryan J. Schmidt, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

A robust estimator of mutation rates.

M. Kimmel, S. Plon, Xiaowei Wu, 2009, Mutation research.

Growth deficiency and malnutrition in Bloom syndrome.

S. Plon, S. Shew, C. Keller, 1999, The Journal of pediatrics.

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

S. Plon, Ninad Oak, R. Ghosh, 2017, bioRxiv.

Nuclear import and retention domains in the amino terminus of RECQL4.

S. Plon, Jinhu Yin, Lynnette M Burks, 2007, Gene.

A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma

C. Korch, S. Plon, R. Gemmill, 2007, Genes, chromosomes & cancer.

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

Christopher G. Chute, Marc S. Williams, Peggy L. Peissig, 2015, J. Am. Medical Informatics Assoc..

Reply.

B. Gallie, S. Plon, D. Gombos, 2018, Ophthalmology.

Psychological and behavioral factors associated with colorectal cancer screening among Ashkenazim.

C. Richards, S. Plon, L. C. Friedman, 1999, Preventive medicine.

Mammography behavior after receiving a negative BRCA1 mutation test result in the Ashkenazim: A Community-based study

Leif E. Peterson, C. Richards, S. Plon, 2000, Genetics in Medicine.

Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents.

S. Hilsenbeck, A. McGuire, R. Street, 2018, Patient education and counseling.

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non‐Navajo patients

S. Plon, R. Erickson, A. Irvine, 2003, American journal of medical genetics. Part A.

CHES1/FOXN3 interacts with Ski-interacting protein and acts as a transcriptional repressor.

S. Plon, K. Scott, 2005, Gene.

Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database

E. Erhardt, S. Plon, Heather E. Danysh, 2015, Cancer medicine.

The genomic landscape of familial glioma

A. Need, R. Gibbs, E. Boerwinkle, 2023, Science advances.

Implementation and evaluation of clinical exome sequencing in childhood cancer care: The BASIC3 study.

R. Gibbs, S. Hilsenbeck, D. Wheeler, 2013 .

Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome

R. Gibbs, D. Muzny, S. Plon, 2022, Cancer Genetics.

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs

R. Gibbs, D. Wheeler, M. Kimmel, 2016, Pharmacogenetics and genomics.

Somatic cancer variant curation and harmonization through consensus minimum variant level data

Reece K. Hart, Caleb F. Davis, Meredith A. Weaver, 2016, Genome Medicine.

Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families.

A. McGuire, R. Street, S. Plon, 2019, Patient education and counseling.

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Ryan J. Schmidt, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

F. Couch, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

S. Plon, R. Erickson, A. Irvine, 2011, American journal of medical genetics. Part A.

AHomozygousMutation in MSH 6 CausesTurcot Syndrome

C. Richards, M. Hegde, P. Ward, 2005 .

Is Whole‐Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

R. Gibbs, A. McGuire, R. Street, 2016, Pediatric blood & cancer.

Primary care physicians' attitudes and practices regarding cancer genetics: a comparison of 2001 with 1996 survey results.

S. Plon, H. P. Cooper, A. Weinberg, 2009, Journal of cancer education : the official journal of the American Association for Cancer Education.

Cancer genetics--survey of primary care physicians' attitudes and practices.

S. Plon, H. P. Cooper, A. Weinberg, 1997, Journal of cancer education : the official journal of the American Association for Cancer Education.

Human Cdc34 and Rad6B Ubiquitin-Conjugating Enzymes Target Repressors of Cyclic AMP-Induced Transcription for Proteolysis

S. Plon, M. Meistrich, D. Pati, 1999, Molecular and Cellular Biology.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Matthew S. Lebo, Lucia A. Hindorff, Levi Garraway, 2013, Genetics in Medicine.

Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure.

A. McGuire, R. Street, S. Plon, 2017, Personalized medicine.

Cyclin D and cisplatin cytotoxicity in primary neuroblastoma cell lines

S. Plon, R. Rousseau, J. Nuchtern, 2004, Anti-cancer drugs.

Bortezomib interactions with chemotherapy agents in acute leukemia in vitro

S. Plon, T. Horton, S. Berg, 2006, Cancer Chemotherapy and Pharmacology.

Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders

S. Plon, 2021, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The practice of adult genetics: A 7‐year experience from a single center

S. Plon, S. Nagamani, L. M. Franco, 2013, American journal of medical genetics. Part A.

O. Griffith, M. Tolstorukov, M. Griffith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic Predisposition to Childhood Cancer in the Genomic Era.

S. Plon, P. Lupo, 2019, Annual review of genomics and human genetics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

Genetic Counseling and Testing

S. Plon, K. Schneider, J. Schienda, 2021, The Hereditary Basis of Childhood Cancer.

Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1

S. Plon, M. Chintagumpala, R. Lewis, 2004, American journal of medical genetics. Part A.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Dana M. Bis-Brewer, S. Brenner, H. Rehm, 2023, American journal of human genetics.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Clinically relevant changes in family history of cancer over time.

L. Strong, A. Ziogas, H. Anton-Culver, 2011, Journal of the American Medical Association (JAMA).

Identification of USP9X as a leukemia susceptibility gene

A. Sabo, H. Doddapaneni, S. Plon, 2023, Blood advances.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome

W. Foulkes, D. Evans, K. Nathanson, 2017, Clinical Cancer Research.

Expression and localization of the CDC34 ubiquitin-conjugating enzyme in pediatric acute lymphoblastic leukemia.

S. Plon, A. Yu, S. Mohsin, 2001, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3-q31.

S. Plon, L. Field, R. Tobias, 1996, Genomics.

Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study

R. Gibbs, Jianhong Hu, S. Plon, 2023, Pediatric hematology and oncology.

Collaboration to Promote Research and Improve Clinical Care in the Evolving Field of Childhood Cancer Predisposition.

S. Plon, J. Schiffman, L. Diller, 2022, Cancer Prevention Research.

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

R. Gibbs, S. Hilsenbeck, A. McGuire, 2014, Genome Medicine.

Cancer Genetics and Molecular Oncology

S. Plon, 2006 .

ClinGen--the Clinical Genome Resource.

L. Brooks, D. Ledbetter, S. Sherry, 2015, The New England journal of medicine.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Joseph S. Salama, W. Chung, I. Krantz, 2016, American journal of human genetics.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, K. Goddard, L. Hindorff, 2018, Genetics in Medicine.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

R. Gibbs, S. Hilsenbeck, D. Wheeler, 2016, JAMA oncology.

Is Whole‐Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors

R. Gibbs, A. McGuire, R. Street, 2016, Pediatric Blood & Cancer.

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

Joseph S. Salama, Marc S. Williams, W. Chung, 2015, J. Am. Medical Informatics Assoc..

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Matthew S. Lebo, L. Garraway, L. Hindorff, 2013, Genetics in Medicine.

Responsibility, culpability, and parental views on genomic testing for seriously ill children

A. McGuire, S. Plon, J. Robinson, 2019, Genetics in Medicine.

Clinical and molecular features of pediatric cancer patients with Lynch syndrome

Jianhong Hu, V. Korchina, S. Plon, 2022, Pediatric blood & cancer.

Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1‐mutant soft‐tissue sarcoma of childhood

S. Plon, Angshumoy Roy, Raghu Chandramohan, 2021, The Journal of pathology.

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

S. Plon, Angshumoy Roy, M. Chintagumpala, 2016, Cold Spring Harbor molecular case studies.

The Ancestral Pace of Variant Reclassification.

S. Plon, Heidi L. Rehm, 2018, Journal of the National Cancer Institute.

Defective mitochondrial peroxiredoxin-3 results in sensitivity to oxidative stress in Fanconi anemia

S. Plon, K. Leung, S. Mukhopadhyay, 2006, The Journal of cell biology.

The Future of Surveillance in the Context of Cancer Predisposition: Through the Murky Looking Glass

S. Plon, J. Schiffman, D. Malkin, 2017, Clinical Cancer Research.

Anticipation in pediatric malignancies.

S. Plon, 1997, American journal of human genetics.

Defining and Reducing Variant Classification Disparities

Karynne E. Patterson, E. Venner, Irene Gallego Romero, 2024, medRxiv.

ERRATUM: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

N. Spinner, R. Green, L. Garraway, 2014, Genetics in Medicine.

What’s in an exome? Diversity of diagnostic and incidental findings revealed by clinical tumor and germline sequencing of 100 children with solid tumors.

R. Gibbs, S. Hilsenbeck, D. Wheeler, 2014 .