Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes

Advances in Fetal Imaging

(2014) Richard Barth et al.   AMERICAN JOURNAL OF PERINATOLOGY

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

(2013) Anupama Srinivasan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of structural abnormalities in the first trimester using ultrasound

(2013) Harm-Gerd Karl Blaas   BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

Global expression profiling reveals genetic programs underlying the developmental divergence between mouse and human embryogenesis

(2013) Lu Xue et al.   BMC GENOMICS

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

Genetic variation inMKL2and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

(2013) E.I. Ramos et al.   CLINICAL GENETICS

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

(2013) D. Adams et al.   Disease Models & Mechanisms

Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice

(2013) T. Mohun et al.   Disease Models & Mechanisms

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

(2013) Joep de Ligt et al.   HUMAN MUTATION

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

(2013) Stéphanie Valence et al.   NEUROGENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Committee Opinion No. 581

(2013)   OBSTETRICS AND GYNECOLOGY

Accuracy of Ultrasonography at 11–14 Weeks of Gestation for Detection of Fetal Structural Anomalies

(2013) A. Cristina Rossi et al.   OBSTETRICS AND GYNECOLOGY

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination

(2013) Kohei Fujikura et al.   PLoS One

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

(2013) Jonathan L. A. Callaway et al.   PRENATAL DIAGNOSIS

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

(2013) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Accuracy of neurosonography and MRI in clinical management of fetuses referred with central nervous system abnormalities

(2013) D. Paladini et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

TCTN3 Mutations Cause Mohr-Majewski Syndrome

(2012) Sophie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncatingOFD1mutations in male patients

(2012) Y Tsurusaki et al.   CLINICAL GENETICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

(2012) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

(2012) Barak Markus et al.   HUMAN MUTATION

Global Gene Expression during the Human Organogenesis: From Transcription Profiles to Function Predictions

(2012) Lu Xue et al.   International Journal of Biological Sciences

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

(2012) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recent advances in the prenatal interrogation of the human fetal genome

(2012) Lisa Hui et al.   TRENDS IN GENETICS

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

(2008) Anne Michalk et al.   AMERICAN JOURNAL OF HUMAN GENETICS