Attia Razzaq

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

Élodie M. Richard, D.L. Polla, Muhammad Zaman Khan Assir et al. · The American Journal of Human Genetics · 2019 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Ekaterina Ivanova, Frédéric Tran Mau‐Them, Saima Riazuddin et al. · The American Journal of Human Genetics · 2017 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Zafar Iqbal, Mohsin Shahzad, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2012 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar et al. · Genetics in Medicine · 2017 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Zafar Iqbal, Lucia Püttmann, Luciana Musante et al. · European Journal of Human Genetics · 2015 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16