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Rapid genotype imputation from sequence with reference panels

Nature genetics, 2021-07, Vol.53 (7), p.1104-1111

2021

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Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition

Molecular syndromology, 2017-01, Vol.8 (1), p.4-23

2017

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Oral Corticosteroids and Onset of Cardiomyopathy in Duchenne Muscular Dystrophy

The Journal of pediatrics, 2013-10, Vol.163 (4), p.1080-1084.e1

2013

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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

Clinical cancer research, 2017-06, Vol.23 (11), p.e23-e31

2017

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Advanced Parental Age and the Risk of Autism Spectrum Disorder

American journal of epidemiology, 2008-12, Vol.168 (11), p.1268-1276

2008

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Fluconazole use and birth defects in the National Birth Defects Prevention Study

American journal of obstetrics and gynecology, 2016-05, Vol.214 (5), p.657.e1-657.e9

2016

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Prevalence of Duchenne and Becker muscular dystrophies in the United States

Pediatrics (Evanston), 2015-03, Vol.135 (3), p.513-521

2015

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Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States

Journal of developmental and behavioral pediatrics, 2010-05, Vol.31 (4), p.267-275

2010

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Increased frequency of clonal hematopoiesis of indeterminate potential in Bloom syndrome probands and carriers

Haematologica (Roma), 2024-07

2024

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Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

The Journal of pediatrics, 2009-09, Vol.155 (3), p.380-385

2009

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Frequency and Pattern of Documented Diagnostic Features and the Age of Autism Identification

Journal of the American Academy of Child and Adolescent Psychiatry, 2013-04, Vol.52 (4), p.401-413.e8

2013

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A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

American journal of human genetics, 2012-05, Vol.90 (5), p.907-914

2012

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American journal of human genetics, 2019-08, Vol.105 (2), p.403-412

2019

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Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000–2011

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.509-521

2022

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Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997–2011

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1799-1814

2019

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Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children

Pediatrics (Evanston), 2012-03, Vol.129 (3), p.e629-e635

2012

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Familial colloid cysts: not a chance occurrence

Journal of neuro-oncology, 2022-04, Vol.157 (2), p.321-332

2022

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Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype

Annals of the New York Academy of Sciences, 2017-08, Vol.1402 (1), p.56-63

2017

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Elements of morphology: Standard terminology for the head and face

American journal of medical genetics. Part A, 2009-01, Vol.149A (1), p.6-28

2009

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Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

Cardiology in the young, 2017-05, Vol.27 (4), p.797-800

2017

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Maternal Smoking during Pregnancy and the Prevalence of Autism Spectrum Disorders, Using Data from the Autism and Developmental Disabilities Monitoring Network

Environmental health perspectives, 2012-07, Vol.120 (7), p.1042-1048

2012

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Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011

Respiratory care, 2016-10, Vol.61 (10), p.1349-1359

2016

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Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights

Birth defects research, 2023-01, Vol.115 (1), p.43-55

2023

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Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply

Respiratory care, 2017-08, Vol.62 (8), p.1121-1122

2017

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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1850-1853

2014

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Rapid genotype imputation from sequence with reference panels

Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition

Oral Corticosteroids and Onset of Cardiomyopathy in Duchenne Muscular Dystrophy

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

Advanced Parental Age and the Risk of Autism Spectrum Disorder

Fluconazole use and birth defects in the National Birth Defects Prevention Study

Prevalence of Duchenne and Becker muscular dystrophies in the United States

Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States

Increased frequency of clonal hematopoiesis of indeterminate potential in Bloom syndrome probands and carriers

Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

Frequency and Pattern of Documented Diagnostic Features and the Age of Autism Identification

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000–2011

Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997–2011

Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children

Familial colloid cysts: not a chance occurrence

Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype

Elements of morphology: Standard terminology for the head and face

Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

Maternal Smoking during Pregnancy and the Prevalence of Autism Spectrum Disorders, Using Data from the Autism and Developmental Disabilities Monitoring Network

Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011

Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights

Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

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