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The genetics of vascular birthmarks

Clinics in dermatology, 2022-07, Vol.40 (4), p.313-321

2022

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

American journal of human genetics, 2017-10, Vol.101 (4), p.503-515

2017

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

Patient education and counseling, 2019-05, Vol.102 (5), p.895-901

2019

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

Personalized medicine, 2017-11, Vol.14 (6), p.503

2017

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Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

The Journal of clinical investigation, 2017-11, Vol.127 (11), p.4090-4103

2017

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

Genetics in medicine, 2019-05, Vol.21 (5), p.1100-1110

2019

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

Genetics in medicine, 2019-05, Vol.21 (5), p.1100-1110

2019

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

Genetics in medicine, 2019-05, Vol.21 (5), p.1261-1262

2019

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Secondary findings from clinical genomic sequencing: Prevalence, patient perspectives, family history assessment, and healthcare costs from a multi-site study

Genetics in medicine, 2018-10, Vol.21 (5), p.1100-1110

2018

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Genomics and the challenging translation into conservation practice

Trends in ecology & evolution (Amsterdam), 2015-02, Vol.30 (2), p.78-87

2015

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Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia

Human mutation, 2020-11, Vol.41 (11), p.1918-1930

2020

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Diagnostic work‐up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium

American journal of hematology, 2021-11, Vol.96 (11), p.1491-1504

2021

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

Patient education and counseling, 2019-04, Vol.102 (4), p.680-686

2019

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

Genome medicine, 2014-09, Vol.6 (9), p.69-69, Article 69

2014

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Abstract IA16: Clinical genomics for children with solid tumors: Current realities and future opportunities

Clinical cancer research, 2016-01, Vol.22 (1_Supplement), p.IA16-IA16

2016

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Abstract 04: Impact of whole exome sequencing results on clinical decision making for pediatric solid tumor patients in the hypothetical scenario of tumor relapse: A survey of pediatric oncologists

Clinical cancer research, 2016-01, Vol.22 (1_Supplement), p.4-4

2016

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ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC

Neuro-oncology (Charlottesville, Va.), 2014-07, Vol.16 (suppl 3), p.iii24-iii24

2014

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Abstract IA16: Evaluating the implementation and utility of clinical tumor exome sequencing in the pediatric oncology clinic: Early results of the BASIC3 study

Cancer research (Chicago, Ill.), 2014-10, Vol.74 (20_Supplement), p.IA16-IA16

2014

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Abstract 5169: Diagnostic yield of clinical tumor and germline exome sequencing for newly diagnosed children with solid tumors

Cancer research (Chicago, Ill.), 2014-10, Vol.74 (19_Supplement), p.5169-5169

2014

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Abstract 11: Evaluating cancer susceptibility mutations and incidental findings from whole exome sequencing of sequentially diagnosed pediatric solid and brain tumor patients: Early results of the BASIC3 study

Cancer research (Chicago, Ill.), 2014-12, Vol.74 (23_Supplement), p.11-11

2014

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

The Journal of law, medicine & ethics, 2015-09, Vol.43 (3), p.529-537

2015

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

Journal of clinical oncology, 2014-05, Vol.32 (15_suppl), p.10012-10012

2014

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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

Cold Spring Harbor molecular case studies, 2016-09, Vol.2 (5), p.a001057-a001057

2016

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The genetics of vascular birthmarks

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

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

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

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

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

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

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

Secondary findings from clinical genomic sequencing: Prevalence, patient perspectives, family history assessment, and healthcare costs from a multi-site study

Genomics and the challenging translation into conservation practice

Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia

Diagnostic work‐up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium

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

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

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Abstract IA16: Clinical genomics for children with solid tumors: Current realities and future opportunities

Abstract 04: Impact of whole exome sequencing results on clinical decision making for pediatric solid tumor patients in the hypothetical scenario of tumor relapse: A survey of pediatric oncologists

ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC

Abstract IA16: Evaluating the implementation and utility of clinical tumor exome sequencing in the pediatric oncology clinic: Early results of the BASIC3 study

Abstract 5169: Diagnostic yield of clinical tumor and germline exome sequencing for newly diagnosed children with solid tumors

Abstract 11: Evaluating cancer susceptibility mutations and incidental findings from whole exome sequencing of sequentially diagnosed pediatric solid and brain tumor patients: Early results of the BASIC3 study

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

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

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

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