Maja Sukalo

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos et al. · Circulation Cardiovascular Genetics · 2015 · 101 citations · Full text

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Josephina Meester, Laura Southgate, Anna-Barbara Stittrich et al. · The American Journal of Human Genetics · 2015 · 89 citations · Full text

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +4

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin et al. · PLoS ONE · 2011 · 56 citations · Full text

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Josephina Meester, Maja Sukalo, Kim Schroder et al. · Human Mutation · 2018 · 50 citations · Full text

<i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Maja Sukalo, Felix Tilsen, Hülya Kayserili et al. · Human Mutation · 2015 · 49 citations · Full text