Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene regulatory network analysis reveals differences in site-specific cell fate determination in mammalian brain

(2014) Gökhan Ertaylan et al.   Frontiers in Cellular Neuroscience

Neural Stem Cell Differentiation Is Dictated by Distinct Actions of Nuclear Receptor Corepressors and Histone Deacetylases

(2014) Gonçalo Castelo-Branco et al.   Stem Cell Reports

Deletion 16p13.11 uncoversNDE1mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

(2013) Alex R. Paciorkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

(2013) Céline Pebrel-Richard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Discovery of variants unmasked by hemizygous deletions

(2012) Ron Hochstenbach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

(2009) J Knijnenburg et al.   JOURNAL OF MEDICAL GENETICS