First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

Diagnosis of Fetal Limb Abnormalities Before 15 Weeks

(2017) Katherine J. Rice et al.   JOURNAL OF ULTRASOUND IN MEDICINE

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

(2015) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases

(2015) Christopher Konialis et al.   FETAL DIAGNOSIS AND THERAPY

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

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

(2015) Lauren E. Westerfield et al.   PRENATAL DIAGNOSIS

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

(2015) Suzanne Drury et al.   PRENATAL DIAGNOSIS

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

(2015) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

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

Prenatal whole-exome sequencing: parental attitudes

(2015) Eve J. Kalynchuk et al.   PRENATAL DIAGNOSIS

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

(2014) Melanie G. Pepin et al.   GENETICS IN MEDICINE

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

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

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

(2014) Isabel Filges et al.   PRENATAL DIAGNOSIS

High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power

(2014) Beatrice Oneda et al.   PRENATAL DIAGNOSIS

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

(2014) Joo Wook Ahn et al.   PeerJ

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

(2013) D Ganesamoorthy et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

(2013) Julie Sarfati et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

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

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

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

(2012) Maria Cecilia D'Asdia et al.   European Journal of Medical Genetics

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

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

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family

(2011) Wenjing Shen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

(2011) Dru F. Leistritz et al.   GENETICS IN MEDICINE

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Malformation syndromes caused by disorders of cholesterol synthesis

(2010) Forbes D. Porter et al.   JOURNAL OF LIPID RESEARCH

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

(2009) Julie Sarfati et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diagnostic performance of routine ultrasound screening for fetal abnormalities in an unselected Swedish population in 2000-2005

(2009) G. Romosan et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Prenatal sonographic diagnosis of skeletal dysplasias

(2009) T. Schramm et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

(2008) Katharina Engel et al.   HUMAN MUTATION