Associated Papers
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
Sauvigny T et al.
Journal of Neurology, 2020
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke P et al.
Ebiomedicine, 2020
31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.
Harold D et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.
Delpire E et al.
Cold Spring Harbor Molecular Case Studies, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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