Noa Ruhrman‐Shahar

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

Lina Basel‐Vanagaite, Naama Orenstein, Keren Markus‐Bustani et al. · Genetics in Medicine · 2018 · 89 citations · Full text

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 79 citations · Full text

Developmental Anomaly, Developmental Disorder Characterized, Developmental Biology +6

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp> <i>ATOH1</i> </scp>

Zippora Brownstein, Süleyman Gülsüner, Tom Walsh et al. · Clinical Genetics · 2020 · 28 citations · Full text

When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

Lina Basel‐Vanagaite, Noa Ruhrman‐Shahar, Naama Orenstein et al. · Genetics in Medicine · 2020 · 22 citations · Full text

Genome-wide Association Study, Genetic Analysis, Genotype-phenotype Association +8