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Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier

Clinical chemistry (Baltimore, Md.), 2020-01, Vol.66 (1), p.53-60

2020

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Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

Clinical science (1979), 2022-11, Vol.136 (22), p.1615

2022

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Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families

Clinical chemistry (Baltimore, Md.), 2024-04

2024

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Lessons learnt from prenatal exome sequencing

Prenatal diagnosis, 2022-06, Vol.42 (7), p.831-844

2022

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Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel

Prenatal diagnosis, 2018-08, Vol.38 (9), p.692-699

2018

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Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications

Clinical chemistry (Baltimore, Md.), 2020-01, Vol.66 (1), p.207-216

2020

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Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Proceedings of the National Academy of Sciences - PNAS, 2016-03, Vol.113 (9), p.E1236-E1245

2016

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Molecular Architecture of the Human Sinus Node : Insights Into the Function of the Cardiac Pacemaker

Circulation (New York, N.Y.), 2009-03, Vol.119 (12), p.1562-1575

2009

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Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

Prenatal diagnosis, 2024-04, Vol.44 (4), p.432-442

2024

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The anatomy of the cardiac conduction system

Clinical anatomy (New York, N.Y.), 2009-01, Vol.22 (1), p.99-113

2009

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Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Lancet neurology, 2023-09, Vol.22 (9), p.812-825

2023

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Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis

Prenatal diagnosis, 2024-04, Vol.44 (4), p.422-431

2024

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Regulation of sinus node pacemaking and atrioventricular node conduction by HCN channels in health and disease

Progress in biophysics and molecular biology, 2021-11, Vol.166, p.61-85

2021

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Computer Three‐Dimensional Anatomical Reconstruction of the Human Sinus Node and a Novel Paranodal Area

Anatomical record (Hoboken, N.J. : 2007), 2011-06, Vol.294 (6), p.970-979

2011

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A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

Journal of investigative dermatology, 2016-04, Vol.136 (4), p.869-872

2016

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P2 purinergic receptor mRNA in rat and human sinoatrial node and other heart regions

Naunyn-Schmiedeberg's archives of pharmacology, 2009-06, Vol.379 (6), p.541-549

2009

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Likely pathogenic variant in the BICD2 gene in fetus presenting with non‐immune hydrops

Prenatal diagnosis, 2023-06, Vol.43 (6), p.727-729

2023

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Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Genetics in medicine, 2018-11, Vol.20 (11), p.1430-1437

2018

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Next-generation sequencing and the impact on prenatal diagnosis

Expert review of molecular diagnostics, 2018-08, Vol.18 (8), p.689-699

2018

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In Their Own Voices: Methodological Considerations in Narrative Disability Research

Qualitative health research, 2014-03, Vol.24 (3), p.420-430

2014

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Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period

Prenatal diagnosis, 2023-11, Vol.43 (12), p.1567-1569

2023

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A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2‐related congenital adrenal hyperplasia

Prenatal diagnosis, 2023-12, Vol.43 (13), p.1674-1677

2023

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The evolving genetic etiology of conotruncal anomalies

Prenatal diagnosis, 2024-02

2024

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The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3‐related skeletal dysplasias

Prenatal diagnosis, 2020-06, Vol.40 (7), p.785-791

2020

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International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis

Prenatal diagnosis, 2022-05, Vol.42 (6), p.796-803

2022

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Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families

Lessons learnt from prenatal exome sequencing

Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Molecular Architecture of the Human Sinus Node : Insights Into the Function of the Cardiac Pacemaker

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

The anatomy of the cardiac conduction system

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis

Regulation of sinus node pacemaking and atrioventricular node conduction by HCN channels in health and disease

Computer Three‐Dimensional Anatomical Reconstruction of the Human Sinus Node and a Novel Paranodal Area

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

P2 purinergic receptor mRNA in rat and human sinoatrial node and other heart regions

Likely pathogenic variant in the BICD2 gene in fetus presenting with non‐immune hydrops

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Next-generation sequencing and the impact on prenatal diagnosis

In Their Own Voices: Methodological Considerations in Narrative Disability Research

Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period

A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2‐related congenital adrenal hyperplasia

The evolving genetic etiology of conotruncal anomalies

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3‐related skeletal dysplasias

International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis

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