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Whole exome sequence analysis of Peters anomaly

Human genetics, 2014-12, Vol.133 (12), p.1497-1511

2014

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Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2019-04, Vol.21 (4), p.769-771

2019

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Handbook of Forensic Statistics

1st, 2021

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Defective ciliogenesis in INPP5E‐related Joubert syndrome

American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3231-3237

2017

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Technical report: Ethical and policy issues in genetic testing and screening of children

Genetics in medicine, 2013-03, Vol.15 (3), p.234-245

2013

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Moving toward more consistency in variant classification and clinical action

Genetics in medicine, 2023-01, Vol.25 (1), p.12-15

2023

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Hereditary Juvenile Cobalamin Deficiency Caused by Mutations in the Intrinsic Factor Gene

Proceedings of the National Academy of Sciences - PNAS, 2005-03, Vol.102 (11), p.4130-4133

2005

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Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2018-07, Vol.20 (7), p.692-694

2018

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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Genetics in medicine, 2013-02, Vol.15 (2), p.150-152

2013

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Whole exome sequence analysis of Peters anomaly

Human genetics, 2014-12, Vol.133 (12), p.1497-1511

2014

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Response to Knoppers et al

Genetics in medicine, 2019-10, Vol.21 (10), p.2403-2403

2019

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Journal of medical genetics, 2007-05, Vol.44 (5), p.322-326

2007

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Cover Image, Volume 173A, Number 12, December 2017

American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.i-i

2017

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Response to Rosenberg et al

Genetics in medicine, 2013-09, Vol.15 (9), p.754-754

2013

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Ethical and policy issues in genetic testing and screening of children

Pediatrics (Evanston), 2013-03, Vol.131 (3), p.620

2013

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PRMT5 and CDK4/6 inhibition result in distinctive patterns of alternative splicing in melanoma

PloS one, 2023-11, Vol.18 (11), p.e0292278-e0292278

2023

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Dietary and metabolomic determinants of relapse in ulcerative colitis patients: A pilot prospective cohort study

World journal of gastroenterology : WJG, 2017-06, Vol.23 (21), p.3890-3899

2017

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Evidence-based medicine in ART

Human reproduction (Oxford), 2017-01, Vol.32 (1), p.256-256

Vassena, Rita

2017

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Involvement of Rabbis in counseling and referral for genetic conditions : results of a survey

American journal of human genetics, 1993-12, Vol.53 (6), p.1359-1365

1993

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Occupational Health Services: A practical approach

2nd ed., 2013

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The Permeability Transition Pore Controls Cardiac Mitochondrial Maturation and Myocyte Differentiation

Developmental cell, 2011-09, Vol.21 (3), p.469-478

2011

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Multi-tiered Reorganization of the Genome during B Cell Affinity Maturation Anchored by a Germinal Center-Specific Locus Control Region

Immunity (Cambridge, Mass.), 2016-09, Vol.45 (3), p.497-512

2016

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Propagation of Tau Pathology in a Model of Early Alzheimer's Disease

Neuron (Cambridge, Mass.), 2012-02, Vol.73 (4), p.685-697

2012

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Whole exome sequence analysis of Peters anomaly

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

Handbook of Forensic Statistics

Defective ciliogenesis in INPP5E‐related Joubert syndrome

Technical report: Ethical and policy issues in genetic testing and screening of children

Moving toward more consistency in variant classification and clinical action

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Hereditary Juvenile Cobalamin Deficiency Caused by Mutations in the Intrinsic Factor Gene

Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Whole exome sequence analysis of Peters anomaly

Response to Knoppers et al

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Cover Image, Volume 173A, Number 12, December 2017

Response to Rosenberg et al

Ethical and policy issues in genetic testing and screening of children

PRMT5 and CDK4/6 inhibition result in distinctive patterns of alternative splicing in melanoma

Dietary and metabolomic determinants of relapse in ulcerative colitis patients: A pilot prospective cohort study

Evidence-based medicine in ART

Involvement of Rabbis in counseling and referral for genetic conditions : results of a survey

Occupational Health Services: A practical approach

The Permeability Transition Pore Controls Cardiac Mitochondrial Maturation and Myocyte Differentiation

Multi-tiered Reorganization of the Genome during B Cell Affinity Maturation Anchored by a Germinal Center-Specific Locus Control Region

Propagation of Tau Pathology in a Model of Early Alzheimer's Disease

EZH2 Is Required for Germinal Center Formation and Somatic EZH2 Mutations Promote Lymphoid Transformation

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