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Phenotypic variability in RERE‐related disorders and the first report of an inherited variant

American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3358-3363

2022

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A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2315-2324

2022

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A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Genetics in medicine, 2016-12, Vol.18 (12), p.1258-1268

2016

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Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel AP1S1 Variant

Pediatric and developmental pathology, 2023-07, Vol.26 (4), p.406-410

2023

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Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers

JIM - high impact case reports, 2024-01, Vol.12, p.23247096241267154

2024

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Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1412-1417

2023

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A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2057-2063

2023

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Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions

Genes, 2024-07, Vol.15 (7), p.838

2024

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P030: Expanding the differential for 2,3-dihydoxy-2-methylbutyric aciduria

Genetics in Medicine Open, 2023, Vol.1 (1), p.100040, Article 100040

2023

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Using ClinVar as a Resource to Support Variant Interpretation

Current Protocols in Human Genetics, 2016-04, Vol.89 (1), p.8.16.1-8.16.23

2016

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P857: Medical genetics and genomics residents’ perceptions of their gaps in knowledge regarding the clinical intersections of race and racism

Genetics in Medicine Open, 2024, Vol.2, p.101771, Article 101771

2024

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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Genetics in medicine, 2019-04, Vol.21 (4), p.987-993

2019

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OP044: A survey of program directors for combined pediatrics-medical genetics and genomics residency programs: Perspectives when evaluating applicants

Genetics in medicine, 2022-03, Vol.24 (3), p.S369-S370

2022

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After Myriad: Genetic Testing in the Wake of Recent Supreme Court Decisions about Gene Patents

Current genetic medicine reports, 2014, Vol.2 (4), p.223-241

2014

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BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107455, Article 107455

2023

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A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

Genetics in medicine, 2019-08, Vol.21 (8), p.1699-1701

2019

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Development of a consent resource for genomic data sharing in the clinical setting

Genetics in medicine, 2019-01, Vol.21 (1), p.81-88

2019

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Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup

Clinical pharmacology and therapeutics, 2016-02, Vol.99 (2), p.157-160

2016

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Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Cold Spring Harbor molecular case studies, 2018-02, Vol.4 (1), p.a002345

2018

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Using ClinVar as a Resource to Support Variant Interpretations

Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2016-04, Vol.89, p.8.16.1-8.16.23

2016

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Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy

American journal of medical genetics. Part A, 2023, Vol.191 (5), p.1412-1417

2023

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Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children’s hospitals neonatal intensive care units (NICUs)

Journal of perinatology, 2021-07, Vol.41 (7), p.1745-1754

2021

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Withdrawal of artificial nutrition and hydration: a survey of level IV neonatal intensive care units

Journal of perinatology, 2021-09, Vol.41 (9), p.2372-2374

2021

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Forging Ahead with Bread: Nationalism, Networks and Narratives of Progress and Modernity in Japan

Feeding Japan, 2017, p.191-224

2017

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Phenotypic variability in RERE‐related disorders and the first report of an inherited variant

A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel AP1S1 Variant

Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers

Neonatal lupus is a novel cause of positive newborn screening for X‐linked adrenoleukodystrophy

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions

P030: Expanding the differential for 2,3-dihydoxy-2-methylbutyric aciduria

Using ClinVar as a Resource to Support Variant Interpretation

P857: Medical genetics and genomics residents’ perceptions of their gaps in knowledge regarding the clinical intersections of race and racism

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

OP044: A survey of program directors for combined pediatrics-medical genetics and genomics residency programs: Perspectives when evaluating applicants

After Myriad: Genetic Testing in the Wake of Recent Supreme Court Decisions about Gene Patents

BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

Development of a consent resource for genomic data sharing in the clinical setting

Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Using ClinVar as a Resource to Support Variant Interpretations

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy

Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children’s hospitals neonatal intensive care units (NICUs)

Withdrawal of artificial nutrition and hydration: a survey of level IV neonatal intensive care units

Forging Ahead with Bread: Nationalism, Networks and Narratives of Progress and Modernity in Japan

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