Lutz Pfeiffer

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth et al. · American Journal of Medical Genetics Part A · 2005 · 86 citations

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Ilaria Parenti, Maria Esperanza Teresa‐Rodrigo, Jelena Pozojevic et al. · Human Genetics · 2017 · 81 citations

Chromatin, Genome Instability, Mendelian Disorder +12

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

John Barber, N. Simon Thomas, Morag N. Collinson et al. · European Journal of Human Genetics · 2004 · 59 citations · Full text

Apparent Phenotypic Consequences, Developmental Biology, Segmental Haplosufficiency +9

Trio exome sequencing is highly relevant in prenatal diagnostics

Heinz Gabriel, Dirk Korinth, M Ritthaler et al. · Prenatal Diagnosis · 2021 · 57 citations · Full text

Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

Thomas Eggermann, Matthias Begemann, Lutz Pfeiffer · Clinical Epigenetics · 2021 · 10 citations · Full text