Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes
Contiguous deletion of the NDP , MAOA , MAOB , and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms
Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system
Compound heterozygosity of SHOX -encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: A meta-analysis
Race and ethnicity in genetic research
Lost in translation: Meaningful policies for writing about genetics and race
Martsolf syndrome in Japanese siblings
Late-onset cobalamin-C disorder: A challenging diagnosis
Cryptic duplication of 12q24.33 → qter in a child with Angelman syndrome—simultaneous occurrence of two unrelated cytogenetic events
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history
Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
Holt–Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene
Response to “Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women” by Coppedè et al. [2006],
MTHFR and RFC-1 gene polymorphisms and the risk of Down syndrome in Italy. Author's response to the comments by Scala et al. [2007],