Avi Saskin

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Leora Witkowski, Jian Carrot‐Zhang, Steffen Albrecht et al. · Nature Genetics · 2014 · 489 citations

Somatic Smarca4 Mutations, Somatic Variant, Hypercalcemic Type +8

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

Bárbara Rivera, Javad Nadaf, Somayyeh Fahiminiya et al. · Journal of Clinical Investigation · 2019 · 59 citations · Full text

Neurological Disorder, Genetics, Pathology +18

Glucocorticoid resistance syndrome caused by a novel <i>NR3C1</i> point mutation

Reem Al Argan, Avi Saskin, Ji Wei Yang et al. · Endocrine Journal · 2018 · 32 citations · Full text

Genetics, Neuroendocrinology, Pathology +18

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency

Gawa Bidla, David Watkins, Céline Chéry et al. · Molecular Genetics and Metabolism · 2020 · 18 citations · Full text

Methylenetetrahydrofolate Dehydrogenase 1, Mendelian Disorder, Biochemistry +9

<i>COL4A1/2</i> CNVs and cerebral small vessel disease

Avi Saskin, Guillaume Sillon, Natalie Palfreeman et al. · Neurology · 2018 · 14 citations

Neurological Disorder, Nonsmoking 39-Year-old Man, Pathology +24