The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson, +11

Nature Genetics

GeneticsGenomic MechanismMolecular BiologyGene StructureMolecular Genetics +5

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson, +49

Genome Medicine

Familial Hypercalcemia and Hypercalciuria Caused by a Novel Mutation in the Cytoplasmic Tail of the Calcium Receptor*

Tobias Carling, Éva Szabó, Mei Bai, +8

The Journal of Clinical Endocrinology & Metabolism

Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21

Mats Nilsson, Kateřina Krejčı́, Jørn Koch, +3

Nature Genetics

ChromatinDna SequencingSitu DistributionGeneticsPadlock Probes +8

Alpha-cardiac actin mutations produce atrial septal defects

Hans Matsson, Jacqueline Eason, Carol S. Bookwalter, +17

Human Molecular Genetics

Alpha-cardiac Actin MutationsAtrial Septal DefectFounder MutationCardiomyopathyDevelopmental Biology +10

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, +27

Genome Medicine

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Ayumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, +19

Human Molecular Genetics

Molecular NeuroscienceDevelopmental BiologyMolecular PhysiologyGenetic DisorderMendelian Disorder +12

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Mahmoud Mansouri, Lena Marklund, Peter Gustavsson, +6

European Journal of Human Genetics

Clinical DisordersSevere Mental RetardationPsychiatryZdhhc15 ExpressionMedicine +3

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

Peter Gustavsson, Thiébaut-Noel Willig, Arie van Haeringen, +11

Nature Genetics

BiologyCytogeneticsGenetic DisorderGeneticsGenetic Homogeneity +9

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

Anna Bremer, MaiBritt Giacobini, Mats Eriksson, +9

American Journal of Medical Genetics Part B Neuropsychiatric Genetics