Jean‐Marc Good

Birt–Hogg–Dubé syndrome

Cécile Daccord, Jean‐Marc Good, Marie‐Anne Morren et al. · European Respiratory Review · 2020 · 97 citations · Full text

Medicine, Nephrology, Pathology +12

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

Karen W. Gripp, Sarah Smithson, Ingrid Scurr et al. · European Journal of Human Genetics · 2021 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study

Paul McNulty, Richard Pilcher, Renata Necuiniate et al. · Journal of Huntington s Disease · 2018 · 37 citations · Full text

Medicine, Oncology, Cancer Epidemiology +16

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Endika Haro, Florence Petit, Charmaine U. Pira et al. · Nature Communications · 2021 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9