M. Farooq

发表

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population

N. Tommerup, Tanveer Mustafa, M. Tariq, 2017, Psychiatry investigation.

MCPH1: A Novel Case Report and a Review of the Literature

L. Larsen, L. Garavelli, M. Pollazzon, 2022, Genes.

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

N. Tommerup, Mette Boyd, H. Eiberg, 2010, European Journal of Human Genetics.

Adult Phenotypic Spectrum of Headache, Myopathy and Ischemic Stroke Associated with Mitochondrial POLG Mutation

C. Glisson, M. Farooq, J. Min, 2014 .

Craniosynostosis‐microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

N. Tommerup, S. Baig, K. Kjaer, 2010, American journal of medical genetics. Part A.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

N. Tommerup, G. Rubboli, R. Møller, 2016, Molecular Syndromology.

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

N. Tommerup, R. Møller, S. Baig, 2019, The International journal of neuroscience.

Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

H. Bolz, A. Koschak, S. Baig, 2011, Nature Neuroscience.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

S. Baig, N. Dahl, J. Wikström, 2017, European Journal of Human Genetics.

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

N. Tommerup, H. Eiberg, L. Larsen, 2020, Nature Communications.

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families

N. Tommerup, Y. Mang, Mana M Mehrjouy, 2021, Genes.

RRP7A links primary microcephaly to radial glial cells and dysfunction of ribosomal biogenesis, neurogenesis and ciliary resorption

N. Tommerup, H. Eiberg, L. Larsen, 2019, bioRxiv.

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

N. Tommerup, L. Larsen, Y. Mang, 2015, Journal of Human Genetics.

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review.

N. Tommerup, S. Baig, Y. Sarwar, 2021, European journal of medical genetics.

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

H. Hennies, A. Noegel, P. Frommolt, 2012, American journal of human genetics.

Prevention of β-Thalassemia in a Large Pakistani Family through Cascade Testing

S. Baig, M. Aslam, M. Rasool, 2008, Public Health Genomics.

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

N. Tommerup, L. Larsen, Y. Mang, 2017, European journal of medical genetics.

Genetic heterogeneity in Pakistani microcephaly families

N. Tommerup, H. Eiberg, P. Nürnberg, 2013, Clinical genetics.

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

L. Larsen, S. Baig, H. Mubeen, 2023, medRxiv.

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

N. Tommerup, S. Baig, Y. Sarwar, 2017, Nephrology.