Jamie Fisher

Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i>

Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney et al. · American Journal of Medical Genetics Part A · 2014 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Jill A. Rosenfeld, Dina Amrom, Eva Andermann et al. · Neurogenetics · 2012 · 53 citations

Life Sciences, Genetics, Molecular Genetics +16

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Fabíola Paoli Monteiro, Cynthia J. Curry, Robert F. Hevner et al. · European Journal of Medical Genetics · 2019 · 29 citations

Life Sciences, Genetics, Molecular Genetics +13

A novel mutation in two Hmong families broadens the range of <i>STRA6</i>‐related malformations to include contractures and camptodactyly

Julien Marcadier, Alan J. Mears, Elizabeth A. Woods et al. · American Journal of Medical Genetics Part A · 2015 · 20 citations

Life Sciences, Genetics, Molecular Genetics +17