Nadine Sowada

Exome sequencing and CRISPR/Cas genome editing identify mutations of <i>ZAK</i> as a cause of limb defects in humans and mice

Malte Spielmann, Naseebullah Kakar, Naeimeh Tayebi et al. · Genome Research · 2016 · 60 citations · Full text

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

Fernando Bellido, Nadine Sowada, Pilar Mur et al. · Gastroenterology · 2017 · 33 citations · Full text

Somatic Variant, Oncogenic Agent, Medicine +7

<i><scp>BRF1</scp></i> mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

Y.H. Jee, Nadine Sowada, Tom Markello et al. · Clinical Genetics · 2016 · 26 citations · Full text

Short Stature, Genetics, Pathology +17

Mutations of PTPN23 in developmental and epileptic encephalopathy

Nadine Sowada, Mais Hashem, Rüstem Yilmaz et al. · Human Genetics · 2017 · 18 citations

Epileptic Encephalopathy, Genetic Disorder, Genetics +5

Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on &lt;b&gt;&lt;i&gt;SH2B1&lt;/i&gt;&lt;/b&gt; Deletion

Eleni Z. Giannopoulou, Stefanie Zorn, Melanie Schirmer et al. · Hormone Research in Paediatrics · 2021 · 11 citations