Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits

Kay MacDermot, Elena Bonora, Nuala Sykes, +8

The American Journal of Human Genetics

NeurolinguisticsLanguage DevelopmentAtypical Language DevelopmentPsycholinguisticsSpeech Disorders +14

Cardiac homeobox gene NKX2-5mutations and congenital heart disease

David A. Elliott, Edwin P. Kirk, Thomas Yeoh, +9

Journal of the American College of Cardiology

Heart FailureImmunologyCongenital Heart DefectCongenital Cardiac RepairCongenital Heart Anomaly +5

Quantitative Simultaneous Multianalyte Detection of DNA by Dual‐Wavelength Surface‐Enhanced Resonance Raman Scattering

Karen Faulds, Fiona McKenzie, W. Ewen Smith, +1

Angewandte Chemie International Edition

Surface-enhanced Raman ScatteringDna AnalysisMolecular BiologyNucleic Acid Amplification TestBioanalysis +19

Mild phenotypes in a series of patients with Opitz GBBB syndrome with <i>MID1</i> mutations

Joyce So, Vanessa Suckow, Zofia Kijas, +23

American Journal of Medical Genetics Part A

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +22

Tuning the interparticle distance in nanoparticle assemblies in suspension via DNA-triplex formation: correlation between plasmonic and surface-enhanced Raman scattering responses

Luca Guerrini, Fiona McKenzie, Alastair W. Wark, +2

Chemical Science

NanoparticlesEngineeringMetal NanoparticlesSurface-enhanced Raman ScatteringColloidal Nanocrystals +14

Sequence‐Specific DNA Detection Using High‐Affinity LNA‐Functionalized Gold Nanoparticles

Fiona McKenzie, Karen Faulds, Duncan Graham

Small

NanoparticlesDna NanotechnologyEngineeringMetal NanoparticlesNanomaterials +10

LNA functionalized gold nanoparticles as probes for double stranded DNA through triplex formation

Fiona McKenzie, Karen Faulds, Duncan Graham

Chemical Communications

NanoparticlesEngineeringMetal NanoparticlesDna AnalysisMolecular Biology +14

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, +115

The Journal of Clinical Endocrinology & Metabolism

Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG‐Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27‐week fetus with non‐immune hydrops

Matthew Edwards, Fiona McKenzie, Stephen O’Callaghan, +5

Prenatal Diagnosis

Atypical nested 22q11.2 duplications between <scp>LCR</scp>22B and <scp>LCR</scp>22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Karen Woodward, Julie Stampalia, Hannah Vanyai, +19

Molecular Genetics & Genomic Medicine