Amjad Khan

发表

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Muhammad Umair, M. Alfadhel, F. Al Mutairi, 2020, BMC Pulmonary Medicine.

Novel Homozygous TULP1 and RPE65 Variants Underlies Recessive Retinitis Pigmentosa

Xue Zhang, Muhammad Umair, Rongrong Wang, 2020 .

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

Zhichao Miao, G. Rappold, Muhammad Umair, 2020, Genes.

PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly

C. Walsh, Manal A. Alaamery, Salam Massadeh, 2020, Clinical genetics.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

N. Drouot, P. Striano, F. Zara, 2022, Human mutation.

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

S. Arold, S. Furini, A. Pinto, 2022, Frontiers in Molecular Neuroscience.

A Comprehensive review of genetic skeletal disorders reported from Pakistan: A brief commentary

Muhammad Umair, M. Bilal, M. Younus, 2019, Meta Gene.

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

Muhammad Umair, S. Abbas, Nargis Shaheen, 2020, Human Genome Variation.

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family

Xue Zhang, W. Ahmad, Muhammad Umair, 2020, Frontiers in Pediatrics.

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family

Xue Zhang, W. Ahmad, Rongrong Wang, 2017, Human Genome Variation.

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

M. Konantz, C. Lengerke, Zhichao Miao, 2020, The Journal of experimental medicine.

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance

Muhammad Umair, Q. Alam, M. Bilal, 2021, Molecular Syndromology.

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort

Xue Zhang, W. Ahmad, Rongrong Wang, 2019, Molecular genetics & genomic medicine.

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Muhammad Umair, Amjad Khan, Xue Zhang, 2019, BMC Medical Genetics.

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families

Xue Zhang, Rongrong Wang, X. Habulieti, 2020, Frontiers in Pediatrics.

Use of Pharmacogenetic Drugs by the Dutch Population

F. Asselbergs, V. Deneer, Amjad Khan, 2019, Front. Genet..

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

Xue Zhang, W. Ahmad, Rongrong Wang, 2018, Genetic testing and molecular biomarkers.

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Xue Zhang, Rongrong Wang, Amjad Khan, 2017, Genetic testing and molecular biomarkers.

Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A.

Muhammad Umair, M. Alfadhel, Q. Alam, 2021, Genomics.

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly

A. Tolun, S. Mumtaz, S. Malik, 2015, American journal of medical genetics. Part A.

Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing

Rongrong Wang, Amjad Khan, Shirui Han, 2016, Journal of Human Genetics.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

C. Walsh, P. Bauer, A. Barkovich, 2021, Genetics in Medicine.

Homozygous missense variant in POPDC3 causes recessive limb‐girdle muscular dystrophy type 26

Muhammad Umair, S. Shafiq, Shazia Khan, 2022, The journal of gene medicine.

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior

I. Iqbal, S. Shafiq, Ahmed Waqas, 2022, Molecular Syndromology.

RETRACTED ARTICLE: Forensic characterization of 15 autosomal STRs in four populations from Xinjiang, China, and genetic relationships with neighboring populations

D. McNevin, Atif Adnan, X. Zhan, 2018, Scientific Reports.

Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step‐up

Muhammad Umair, A. Shah, Yiming Wu, 2021, Clinical genetics.

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

O. Mäkitie, W. Ahmad, Muhammad Umair, 2020, European journal of medical genetics.

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Muhammad Umair, M. Alfadhel, S. Abbas, 2019, Front. Pediatr..

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

S. Khan, Q. Alam, Shazia Khan, 2023, Genes.

A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

S. Mayeur, B. Lhermitte, S. Arold, 2021, Movement disorders : official journal of the Movement Disorder Society.

A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations

S. Abbas, Amjad Khan, Muhammad Umair, 2023, Clinical genetics.