Annette Grueters

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

Edith C. H. Friesema, Annette Grueters, Heike Biebermann et al. · The Lancet · 2004 · 697 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

Beth Coyle, William Reardon, Jo-Anne Herbrick et al. · Human Molecular Genetics · 1998 · 242 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +14

An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity

Peter Kuehnen, Mona Mischke, Susanna Wiegand et al. · PLoS Genetics · 2012 · 171 citations · Full text

Metabolic Disorder, Epigenetic Change, Genetics +20

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

A Rajab, Daniel Kelberman, Sandra C. de Castro et al. · Human Molecular Genetics · 2008 · 103 citations · Full text

Developmental Anomaly, Sensorineural Hearing Loss, Developmental Biology +11

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8

Heike Biebermann, Petra Ambrugger, Patrick Tarnow et al. · European Journal of Endocrinology · 2005 · 96 citations