Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds

Jonathan R. Skinner, Jackie Crawford, Warren Smith, +16

Heart Rhythm

Death InvestigationForensic MedicineYear OldsMedicineEpidemiology +1

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, +44

Wellcome Open Research

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Kathie J. Ngo, Jessica E. Rexach, Hane Lee, +23

Human Mutation

Neurological DisorderExome SequencingGeneticsGenetic EpidemiologyDisease Gene Identification +19

<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, +43

Journal of Medical Genetics

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, +7

Neuromuscular Disorders

Mendelian DisorderAutoimmune DiseaseDisease MechanismBilateral Perisylvian PolymicrogyriaGenetic Disorder +7

Posthumous diagnosis of long QT syndrome from neonatal screening cards

Patrick Gladding, C.-A. Evans, Jackie Crawford, +8

Heart Rhythm

NeonatologyPosthumous DiagnosisInherited Metabolic DiseasePediatricsDiagnosis +3

T‐cell acute lymphoblastic leukemia in association with Börjeson–Forssman–Lehmann syndrome due to a mutation in <i>PHF6</i>

Mwe Mwe Chao, Matthew Todd, Udo Kontny, +5

Pediatric Blood & Cancer

Hematological MalignancyLymphoid NeoplasiaSomatic VariantGenetic DisorderMixed-phenotype Acute Leukemia +13

Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group

Jason Kennedy, Gail C. Jackson, Faye S. Barker, +8

Human Mutation

Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defects

Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, +18

Journal of Medical Genetics

The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review

Rohan Ameratunga, See‐Tarn Woon, Katherine Neas, +1

Allergy Asthma and Clinical Immunology

Genetic TestingSmall Developed CountryImmunodeficienciesImmunologyDiagnosis +18