Anna M. Cueto‐González

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil et al. · The American Journal of Human Genetics · 2013 · 125 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 102 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +15

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Roser Urreizti, Anna M. Cueto‐González, Héctor Franco‐Valls et al. · Scientific Reports · 2017 · 38 citations · Full text

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup et al. · Journal of Medical Genetics · 2024 · 34 citations · Full text

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 30 citations · Full text

New Patients, Mendelian Disorder, Genetic Disorder +9