Rachel Silver

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev et al. · Neuron · 2013 · 163 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +6

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner et al. · The American Journal of Human Genetics · 2016 · 116 citations · Full text

<i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Maian Roifman, Carlo Marcelis, Tara Paton et al. · Clinical Genetics · 2014 · 64 citations

Developmental Anomaly, Index Family, Allelic Variant +11

TSEN54 mutations cause pontocerebellar hypoplasia type 5

Yasmin Namavar, David Chitayat, P. G. Barth et al. · European Journal of Human Genetics · 2011 · 47 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

What keeps you up at night? Genetics professionals' distressing experiences in patient care

Barbara A. Bernhardt, Rachel Silver, Cynda Hylton Rushton et al. · Genetics in Medicine · 2010 · 36 citations · Full text

Nursing, Family Medicine, Sleep +12