Jennifer Gannon

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Lora Jh Bean, Birgit Funke, Colleen M. Carlston et al. · Genetics in Medicine · 2019 · 173 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The expression pattern of the Distal-less homeo☐-containing gene Dlx-5 in the developing chick limb bud suggests its involvement in apical ectodermal ridge activity, pattern formation, and cartilage differentiation

Deborah Ferrari, Lauro Sumoy, Jennifer Gannon et al. · Mechanisms of Development · 1995 · 99 citations

Life Sciences, Developmental Biology, Molecular Biology +17

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity et al. · Genetics in Medicine · 2022 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <i>BORCS8</i> variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf et al. · Brain · 2023 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, Elizabeth Chao, Jennifer Gannon et al. · Genetics in Medicine · 2020 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17