Jean‐Marc Good

Birt–Hogg–Dubé syndrome

Cécile Daccord, Jean‐Marc Good, Marie‐Anne Morren et al. · European Respiratory Review · 2020 · 94 citations · Full text

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 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9

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 · 44 citations · Full text

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 · 31 citations · Full text

ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy

Jean‐Marc Good, Florence Fellmann, Zahurul A. Bhuiyan et al. · HeartRhythm Case Reports · 2019 · 30 citations · Full text