Helena Malmgren

Padlock Probes: Circularizing Oligonucleotides for Localized DNA Detection

Mats Nilsson, Helena Malmgren, Martina Samiotaki et al. · Science · 1994 · 773 citations

Dna, Genetics, Dna Analysis +16

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 369 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +9

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 et al. · Genome Medicine · 2021 · 253 citations · Full text

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

Maire-Louise Bondeson, Niklas Dahl, Helena Malmgren et al. · Human Molecular Genetics · 1995 · 176 citations

Mendelian Disorder, Genetic Disorder, Genetics +12

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani et al. · The American Journal of Human Genetics · 2015 · 140 citations · Full text

Recognizable Syndromic Features, Developmental Biology, Mendelian Disorder +6