Ayala Frumkin

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Elena Belloni, Maximilian Muenke, Erich Roessler et al. · Nature Genetics · 1996 · 644 citations

Knockout Mouse, Developmental Biology, Genetics +5

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher et al. · Nature Genetics · 2000 · 398 citations

Disease Mechanism, Pathogenesis, Pathology +4

Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels

Ronit Yelin, Rachel Ben‐Haroush Schyr, Hadas Kot et al. · Developmental Biology · 2005 · 124 citations

Developmental Biology, Alcohol Dehydrogenases, Genetics +8

F-Spondin Is Required for Accurate Pathfinding of Commissural Axons at the Floor Plate

Tal Burstyn‐Cohen, Vered Tzarfaty, Ayala Frumkin et al. · Neuron · 1999 · 124 citations · Full text

Accurate Pathfinding, Kinesiology, Spinal Biomechanics +8

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

Esther Maor‐Sagie, Yuval Cinnamon, Yaacov Barak et al. · Journal of Assisted Reproduction and Genetics · 2015 · 117 citations · Full text

Deleterious Mutation, Somatic Variant, Genetic Disorder +6