Noa Zunz Henig

Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies

Yuval Yaron, Vered Ofen Glassner, Adi Mory et al. · Ultrasound in Obstetrics and Gynecology · 2022 · 78 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang et al. · The American Journal of Human Genetics · 2023 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

De novo variants in ATP2B1 lead to neurodevelopmental delay

Meer Jacob Rahimi, Nicole Urban, Meret Wegler et al. · The American Journal of Human Genetics · 2022 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Biallelic loss of <scp><i>EMC10</i></scp> leads to mild to severe intellectual disability

Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri et al. · Annals of Clinical and Translational Neurology · 2022 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant

Alina Kurolap, David Hagin, Tal Freund et al. · Human Genetics · 2022 · 10 citations · Full text

Life Sciences, Immunology, Molecular Genetics +5