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Mutations in NOTCH1 Cause Adams-Oliver Syndrome

American journal of human genetics, 2014-09, Vol.95 (3), p.275-284

2014

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Whole-Genome Sequencing of a Healthy Aging Cohort

Cell, 2016-05, Vol.165 (4), p.1002-1011

2016

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing

PloS one, 2014-04, Vol.9 (4), p.e94554

2014

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New observations on maternal age effect on germline de novo mutations

Nature communications, 2016-01, Vol.7 (1), p.10486-10486, Article 10486

2016

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Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

Genetics in medicine, 2016-03, Vol.18 (3), p.221-230

2016

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Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Genetics in medicine, 2017-12, Vol.19 (12), p.1367-1375

2017

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Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Human molecular genetics, 2009-02, Vol.18 (3), p.463-471

2009

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Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Allergy, asthma, and clinical immunology, 2019-05, Vol.15 (1), p.32-4, Article 32

2019

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Predicting the Clinical Lethality of Osteogenesis Imperfecta from Collagen Glycine Mutations

Biochemistry (Easton), 2008-05, Vol.47 (19), p.5424-5432

2008

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Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

JAMA : the journal of the American Medical Association, 2023-01, Vol.329 (4), p.318

2023

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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1111-1116

2015

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Pitfalls of clinical exome and gene panel testing: alternative transcripts

Genetics in medicine, 2019-05, Vol.21 (5), p.1240-1245

2019

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Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts

Genetics in medicine, 2021-11, Vol.23 (11), p.2229-2229

2021

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Cell type-specific gene expression differences in complex tissues

Nature methods, 2010-04, Vol.7 (4), p.287-289

2010

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Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Nature genetics, 2018-04, Vol.50 (4), p.487-492

2018

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Tools for annotation and comparison of structural variation

F1000 research, 2017, Vol.6, p.1795-1795

2017

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Genomic and molecular characterization of preterm birth

Proceedings of the National Academy of Sciences - PNAS, 2019-03, Vol.116 (12), p.5819-5827

2019

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Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Frontiers in genetics, 2015-02, Vol.6, p.45-45

2015

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Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1

Hypertension (Dallas, Tex. 1979), 2018-08, Vol.72 (2), p.408-416

2018

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Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error

Journal of computational biology, 2019-05, Vol.26 (5), p.405-419

2019

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Publisher Correction: Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Nature genetics, 2021-08, Vol.53 (8), p.1270-1270

2021

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Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas

Gastroenterology (New York, N.Y. 1943), 2015-12, Vol.149 (7), p.1872-1883.e9

2015

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Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Cold Spring Harbor molecular case studies, 2018-06, Vol.4 (3), p.a002360

2018

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Germline De Novo Mutation Clusters Arise During Oocyte Aging in Genomic Regions With High Double-Strand-Break Incidence

Obstetrical & gynecological survey, 2018-09, Vol.73 (9), p.531-532

2018

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Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Whole-Genome Sequencing of a Healthy Aging Cohort

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing

New observations on maternal age effect on germline de novo mutations

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Predicting the Clinical Lethality of Osteogenesis Imperfecta from Collagen Glycine Mutations

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome

Pitfalls of clinical exome and gene panel testing: alternative transcripts

Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts

Cell type-specific gene expression differences in complex tissues

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Tools for annotation and comparison of structural variation

Genomic and molecular characterization of preterm birth

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error

Publisher Correction: Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Germline De Novo Mutation Clusters Arise During Oocyte Aging in Genomic Regions With High Double-Strand-Break Incidence

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