Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

(2022) Alicia B. Byrne et al.   Science Translational Medicine

The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration

(2022) Jessica L. Giordano et al.   PRENATAL DIAGNOSIS

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

(2021) Carla De Angelis et al.   BMC Medical Genomics

Inherent mosaicism and extensive mutation of human placentas

(2021) Tim H. H. Coorens et al.   NATURE

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

(2021) Natalie B Tan et al.   JOURNAL OF MEDICAL GENETICS

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1 -related syndrome

(2020) Peer Arts et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

(2020) Kristin G. Monaghan et al.   GENETICS IN MEDICINE

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

(2020) Alicia B Byrne et al.   JOURNAL OF MEDICAL GENETICS

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

(2020) Chantal Deden et al.   PRENATAL DIAGNOSIS

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

(2020) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Causal Genetic Variants in Stillbirth

(2020) Kate E. Stanley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches

(2020) Brent S. Pedersen et al.   Genome Medicine

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

(2019) Slavé Petrovski et al.   LANCET

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

(2019) Jenny Lord et al.   LANCET

The REDCap consortium: Building an international community of software platform partners

(2019) Paul A. Harris et al.   JOURNAL OF BIOMEDICAL INFORMATICS

National, regional, and global levels and trends in neonatal mortality between 1990 and 2017, with scenario-based projections to 2030: a systematic analysis

(2019) Lucia Hug et al.   Lancet Global Health

Mothers with long QT syndrome are at increased risk for fetal death: Findings from a multicenter international study

(2019) Bettina F. Cuneo et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development

(2018) Neeta L. Vora et al.   GENETICS IN MEDICINE

matchbox : An open-source tool for patient matching via the Matchmaker Exchange

(2018) Harindra Arachchi et al.   HUMAN MUTATION

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

(2018) Elizabeth Quinlan-Jones et al.   GENETICS IN MEDICINE

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

(2018) Edgar A. Rivera-Muñoz et al.   HUMAN MUTATION

Molecular autopsy in maternal–fetal medicine

(2017) Hanan E Shamseldin et al.   GENETICS IN MEDICINE

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

(2017) Carin L Yates et al.   GENETICS IN MEDICINE

Evolving health care through personal genomics

(2017) Heidi L. Rehm   NATURE REVIEWS GENETICS

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death

(2017) Jane E Armes et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

(2017) Karen L. Stals et al.   PRENATAL DIAGNOSIS

Perinatal death investigations: What is current practice?

(2017) J.W. Nijkamp et al.   Seminars in Fetal & Neonatal Medicine

Stillbirths: economic and psychosocial consequences

(2016) Alexander E P Heazell et al.   LANCET

Supporting women, families, and care providers after stillbirths

(2016) Caroline S E Homer et al.   LANCET

Stillbirths: recall to action in high-income countries

(2016) Vicki Flenady et al.   LANCET

Standard Terminology for Fetal, Infant, and Perinatal Deaths

(2016) W. D. Barfield et al.   PEDIATRICS

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

(2015) Christina L. Alamillo et al.   PRENATAL DIAGNOSIS

Long QT Syndrome–Associated Mutations in Intrauterine Fetal Death

(2013) Lia Crotti et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

(2012) Uma M. Reddy et al.   NEW ENGLAND JOURNAL OF MEDICINE

Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support

(2008) Paul A. Harris et al.   JOURNAL OF BIOMEDICAL INFORMATICS