Regina Célia Mingroni‐Netto

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

Diane Allingham‐Hawkins, Riyana Babul‐Hirji, David Chitayat et al. · American Journal of Medical Genetics · 1999 · 500 citations · Full text

Medicine, Endocrinology, Genetics +15

Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto et al. · Nature Communications · 2022 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Fernanda Sarquis Jehee et al. · Cytogenetic and Genome Research · 2006 · 125 citations

Life Sciences, Genetics, Molecular Genetics +17

Duplications of <i>BHLHA9</i> are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Eva Klopocki, Silke B. Lohan, Sandra C. Doelken et al. · Journal of Medical Genetics · 2011 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

Ana Carla Batissoco, Ronaldo Serafim Abreu-Silva, Maria Cristina C. Braga et al. · Ear and Hearing · 2008 · 88 citations

Life Sciences, Genetics, Molecular Genetics +15