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American Journal of Medical Genetics. Part A|September 14, 2020
Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesisAaron P Adam, Cynthia J Curry, Judith G Hall, et al.American Journal of Medical Genetics. Part A|July 16, 2008
Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?Cynthia J Curry, Rong Mao, Emily Aston, et al.American Journal of Medical Genetics. Part A|September 17, 2015
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactylyJulien L Marcadier, Alan J Mears, Elizabeth A Woods, et al.European Journal of Medical Genetics|January 29, 2019
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformationsFabiola P Monteiro, Cynthia J Curry, Robert Hevner, et al.American Journal of Medical Genetics. Part A|May 17, 2007
Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardationAnnika M Svensson, Cynthia J Curry, Sarah T South, et al.American Journal of Medical Genetics. Part A|April 29, 2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, JrPedro A Sanchez-Lara, Katheryn Grand, Maria K Haanpää, et al.American Journal of Human Genetics|March 6, 2012
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signalingAmy E Merrill, Anna Sarukhanov, Pavel Krejci, et al.Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.Genomics|February 7, 2002
Molecular genetic studies of human chromosome 7 in Russell-Silver syndromeKazuhiko Nakabayashi, Bridget A Fernandez, Ikuko Teshima, et al.European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.Pageof 5