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Trustworthy Augmented Intelligence in Health Care

Journal of medical systems, 2022-02, Vol.46 (2), p.12-12, Article 12

2022

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Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-11, Vol.160C (4), p.250-262

2012

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Focused Revision: ACMG practice resource: Genetic evaluation of short stature

Genetics in medicine, 2021-05, Vol.23 (5), p.813-815

2021

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Maintenance of Certification 2.0 — Strong Start, Continued Evolution

The New England journal of medicine, 2015-01, Vol.372 (2), p.104-106

2015

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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

American journal of human genetics, 2009-03, Vol.84 (3), p.307-315

2009

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Longitudinal assessments in continuing specialty certification and lifelong learning

Medical teacher, 2018-09, Vol.40 (9), p.917-919

2018

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.937-947

2010

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The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Journal of medical genetics, 2007-09, Vol.44 (9), p.594-602

2007

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Brainstem Lesions in Neurofibromatosis Type 1

Neurosurgery, 2007-10, Vol.61 (4), p.762-767

2007

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Genetics in medicine, 2006-12, Vol.8 (12), p.784-792

2006

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Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1

Pediatric blood & cancer, 2010-07, Vol.54 (7), p.890-896

2010

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Pilot Study of a Novel Computerized Task to Assess Spatial Learning in Children and Adolescents With Neurofibromatosis Type 1

Journal of child neurology, 2010-10, Vol.25 (10), p.1195-1202

2010

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Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance

Clinical chemistry (Baltimore, Md.), 2007-12, Vol.53 (12), p.2051-2059

2007

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Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

American journal of medical genetics. Part A, 2007-11, Vol.143A (21), p.2523-2533

2007

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Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome

Prenatal diagnosis, 2006-09, Vol.26 (9), p.842-849

2006

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

The Lancet (British edition), 1993-05, Vol.341 (8857), p.1414-1414

1993

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Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Nature genetics, 1997-09, Vol.17 (1), p.18-19

1997

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Polymicrogyria is Associated With Pathogenic Variants in PTEN

Annals of neurology, 2020-12, Vol.88 (6), p.1153-1164

2020

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Nature genetics, 2017-01, Vol.49 (1), p.36-45

2017

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Expanding Educators’ Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification

Academic medicine, 2016-01, Vol.91 (1), p.16-19

2016

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Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

Genetics in medicine, 2002-07, Vol.4 (4), p.279-288

2002

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ACMG practice guideline: genetic evaluation of short stature

Genetics in medicine, 2009-06, Vol.11 (6), p.465-470

2009

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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.528-540

2005

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Trustworthy Augmented Intelligence in Health Care

Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology

Focused Revision: ACMG practice resource: Genetic evaluation of short stature

Maintenance of Certification 2.0 — Strong Start, Continued Evolution

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Copy number variation plays an important role in clinical epilepsy

Longitudinal assessments in continuing specialty certification and lifelong learning

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Brainstem Lesions in Neurofibromatosis Type 1

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1

Pilot Study of a Novel Computerized Task to Assess Spatial Learning in Children and Adolescents With Neurofibromatosis Type 1

Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Polymicrogyria is Associated With Pathogenic Variants in PTEN

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Expanding Educators’ Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

ACMG practice guideline: genetic evaluation of short stature

Clinical genetic testing for patients with autism spectrum disorders

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

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