Howard M. Saal

Technical report: ethical and policy issues in genetic testing and screening of children

Howard M. Saal, Karen L. David, Rebecca Rae Anderson · Genetics in Medicine · 2013 · 450 citations · Full text

Public Health, Genetics, Pediatrics +16

Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome

Deborah A. Driscoll, Nancy B. Spinner, Marcia L. Budarf et al. · American Journal of Medical Genetics · 1992 · 387 citations

Life Sciences, Genetics, Molecular Genetics +17

Tamoxifen and contralateral breast cancer in <i>BRCA1</i> and <i>BRCA2</i> carriers: An update

Jacek Gronwald, Nadine Tung, William D. Foulkes et al. · International Journal of Cancer · 2005 · 251 citations · Full text

Medicine, Gynecology, Oncology +13

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

Ravi Savarirayan, Louise Tofts, Melita Irving et al. · The Lancet · 2020 · 198 citations

Medicine, Pediatrics, Pharmacotherapy +2

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen, Rolph Pfundt, Katrin Linda et al. · European Journal of Human Genetics · 2015 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8