Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Ingeborg Barišić, Ljubica Odak, Maria Loane, +18

European Journal of Human Genetics

Developmental AnomalyPediatricsGynecologyMaternal HealthDiagnosis +6

Fraser Syndrome: Epidemiological Study in a European Population

Ingeborg Barišić, Ljubica Odak, Maria Loane, +21

American Journal of Medical Genetics Part A

Genetic EpidemiologyEpidemiologic ResearchPathologyClinical GeneticsFraser Syndrome +14

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report

Ljubica Odak, Ingeborg Barišić, Leona Morožin Pohovski, +2

Croatian Medical Journal

Hospital length of stay among children with and without congenital anomalies across 11 European regions—A population-based data linkage study

Joachim Tan, Joan K. Morris, Joanne Given, +19

PLoS ONE

Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability

Leona Morožin Pohovski, Katja K. Dumic, Ljubica Odak, +1

Molecular Cytogenetics

Periacinar clefting and p63 immunostaining in prostatic intraepithelial neoplasia and prostatic carcinoma

Božo Krušlin, Davor Tomas, Aida Čviko, +3

Pathology & Oncology Research

Tumor BiologyUrologyPerineural InvasionGenitourinary CancerMedicine +7

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels

Aoife Murray, Gillian Gough, Ana Cindrić, +42

EBioMedicine

Epidemiology of aplasia cutis congenita: A population‐based study in Europe

Alessio Coi, Ingeborg Barišić, Ester Garne, +30

Journal of the European Academy of Dermatology and Venereology

Temporal and geographical variations in survival of children born with congenital anomalies in Europe: A multi‐registry cohort study

Michele Santoro, Alessio Coi, Anna Pierini, +31

Paediatric and Perinatal Epidemiology

Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey

Elena Marcus, Anna Latos‐Bieleńska, Anna Jamry‐Dziurla, +16

BMC Pediatrics