Göbel,T.M.K.; Bodner,M.; Robino,C.; Augustin,C.; Huber,G.E.; Marra,M.; Mutesa,L.; Pasino,S.; Santovito,A.; Zimmermann,B.; Schneider,P.M.; Parson,W.; This study provides 398 novel complete mitochondrial control region sequences that augment the still underrepresented data from Africa by three datasets: a mixed West African sample set deriving from 12 countries (n=145) and datasets from Cote d’Ivoire (Ivory Coast) (n=100) as well as Rwanda (n=153). The analysis of mtDNA variation and genetic comparisons with published data revealed low random match probabilities in all three datasets and typical West African and East African diversity, respectively. [Read More]

Benschop,C.C.G.; Hoogenboom,J.; Bargeman,F.; Hovers,P.; Slagter,M.; vanderLinden,J.; Parag,R.; Kruise,D.; Drobnic,K.; Klucevsek,G.; Parson,W.; Berger,B.; Laurent,F.X.; Faivre,M.; Ulus,A.; Schneider,P.; Bogus,M.; Kneppers,A.L.J.; Sijen,T.; This study describes a multi-laboratory validation of DNAxs, a DNA eXpert System for the data management and probabilistic interpretation of DNA profiles [1], and its statistical library DNAStatistX to which, besides the organising laboratory, four laboratories participated. The software was modified to read multiple data formats and the study was performed prior to the release of the software to the forensic community. [Read More]

Ng,C.; Woess,C.; Maier,H.; Schmidt,V.M.; Lucciarini,P.; Ofner,D.; Rabl,W.; Augustin,F.; OBJECTIVES: Recurrent laryngeal nerve (RLN) injury during thoracic surgery may result in life-threatening postoperative complications including recurrent aspiration and pneumonia. Anatomical details of the intrathoracic course are scarce. However, only an in-depth understanding of the anatomy will help reduce nerve injury. The aim of this study was to assess the anatomic variations of the intrathoracic left RLN. METHODS: Left-sided vagal nerves and RLN were dissected in 100 consecutive Caucasian cadavers during routine autopsy. [Read More]

Waich,S.; Janecke,A.R.; Parson,W.; Greber-Platzer,S.; Muller,T.; Huber,L.A.; Valovka,T.; Vodopiutz,J.; Biallelic loss-of-function mutations in the centrosomal pericentrin gene (PCNT) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. Life expectancy is reduced due to a high risk of cerebral vascular anomalies. Here, we report two siblings with MOPDII and attenuated growth restriction, and pachygyria. Compound heterozygosity for two novel truncatedPCNTvariants was identified. [Read More]

Carracedo,A.; Butler,J.M.; Gusmao,L.; Linacre,A.; Parson,W.; Schneider,P.M.; Vallone,P.M.; Vennemann,M.;

Forensic Sci Int Genet 2020 48:102357
PubMed: 32736896