Krystyńa Chrzańowska

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Raymonda Varon, Christine Vissinga, Matthias Platzer et al. · Cell · 1998 · 1.1K citations · Full text

Is Mutated, Chromatin, Genome Instability +10

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 392 citations

Biology, Pcnt Results, Developmental Biology +10

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Andrew O.M. Wilkie, Zequn Tang, Navaratnam Elanko et al. · Nature Genetics · 2000 · 318 citations

Regenerative Medicine, Sclerostin, Developmental Biology +9

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

Petra van der Lelij, Krystyńa Chrzańowska, Barbara C. Godthelp et al. · The American Journal of Human Genetics · 2010 · 270 citations · Full text

Mendelian Disorder, Warsaw Breakage Syndrome, Genetic Disorder +9

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 227 citations · Full text