Amjad Khan

10PUBLICATIONS
23CO-AUTHORS
Infant and child healthCentral nervous systemEpigenetics (incl. genome methylation and epigenomics)Genetics not elsewhere classifiedDevelopmental genetics (incl. sex determination)
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Publications (10)

|Jul 22, 2026
Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Elizabeth A Werren, Emily R Peirent, Henna Jantti

|May 25, 2024
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.

Saima, Amjad Khan, Sajid Ali

|Feb 13, 2024
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi

|May 27, 2023
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Hamed Nawaz, Mujahid, Sher Alam Khan

|Jan 25, 2022
Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.

Anwar Ullah, Zhaohan Lin, Muhammad Younus

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Frequent Collaborators

4 joint publications

Muhammad Umair

1 joint publications

Zhichao Miao

1 joint publications

Farooq Ahmad

1 joint publications

Raphael Carapito