Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V. Harlalka, Andrew H. Crosby, Anna Lehman et al.|Brain|2013Cited by 143
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndromeVafa Alakbarzade, Andrew H. Crosby, Barry A. Chioza et al.|Nature Genetics|2015Cited by 136
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L. Baple, Andrew H. Crosby, Helen Chambers et al.|Journal of Clinical Investigation|2014Cited by 98
A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesisAndrew H. Crosby, Aisha Al‐Khayat, Fathiya Al-Murshedi et al.|Brain|2016Cited by 78
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V. Harlalka, Andrew H. Crosby, Emma L. Baple et al.|Journal of Medical Genetics|2012Cited by 75