Sixto García‐Miñáur

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdaléna Harakaľová, J. J. T. van Harssel, Stef van Lieshout et al. · Nature Genetics · 2012 · 199 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon et al. · European Journal of Human Genetics · 2011 · 180 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +13

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

R. W. Davies, Ania Fiksinski, Elemi Breetvelt et al. · Nature Medicine · 2020 · 143 citations · Full text

Gene Deletion Data, Genotype-phenotype Association, Risk Prediction +8

Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals†

Theresa M. Marteau, Irma Nippert, Sue Hall et al. · Prenatal Diagnosis · 2002 · 133 citations

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand et al. · Molecular Psychiatry · 2020 · 132 citations · Full text

Psychiatry, Risk Prediction, Psychotic Disorder +8