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Author Details

Matloob Azam
Wah Medical College
1997
24
12
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37951597Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain2024
31586943Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephaly.J Med Genet2020
32127623A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.J Hum Genet2020
27616480Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.Am J Hum Genet2016
26026149Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Elife2015
25848753Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet2015
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
22700954Exome sequencing can improve diagnosis and alter patient management.Sci Transl Med2012
216204675 versus 10 days of treatment with ceftriaxone for bacterial meningitis in children: a double-blind randomised equivalence study.Lancet2011
19764032Expanding CEP290 mutational spectrum in ciliopathies.Am J Med Genet A2009
20004765Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.Am J Hum Genet2009
18387594CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.Am J Hum Genet2008
19068953Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.Am J Hum Genet2008
18724570Piracetam in severe breath holding spells.Int J Psychiatry Med2008
16923859Hair-on-end appearance.Arch Dis Child2006
16990355Extreme subcutaneous emphysema of eyelids.Arch Dis Child2006
16183305Use of ACTH and prednisolone in infantile spasms: experience from a developing country.Seizure2005
15762054Intracranial tuberculomas and caries spine: an experience from Children's Hospital Islamabad.J Ayub Med Coll Abbottabad2004
14696896Widespread skeletal tuberculosis in a two years old girl.J Pak Med Assoc2003
14738268Blue rubber bleb nevus syndrome: associated with severe GI bleeding requiring one hundred blood transfusions.J Pak Med Assoc2003
12243996Carers' perception of childhood asthma and its management in a selected Pakistani community.Arch Dis Child2002
9783048Adrenoleukodystrophy: case report.J Pak Med Assoc1998
10771962Cerebral infarction in infants and children: clinical features, CT and EEG findings.Indian J Pediatr1998
9131861Symptomatic carriers of muscular dystrophy.J Pak Med Assoc1997
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Collaborators

University of California
Co-authored papers 8
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 8
University of California
Co-authored papers 4
University of California
Co-authored papers 4
University of Virginia
Co-authored papers 4
Cairo University
Co-authored papers 4
Broad Institute of MIT and Harvard
Co-authored papers 4
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 4
Istanbul University
Co-authored papers 3
Hamad Medical Corporation.
Co-authored papers 3
university of california san diego Health Physician Network
Co-authored papers 3
Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 3
University of Pennsylvania
Co-authored papers 3
Yale School of Medicine
Co-authored papers 2
University of California
Co-authored papers 2
University of Washington
Co-authored papers 2
The University of Jordan
Co-authored papers 2
University of Pavia
Co-authored papers 2
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 2
The Hospital for Sick Children
Co-authored papers 2
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 2
Yale School of Medicine
Co-authored papers 2
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 2
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Howard Hughes Medical Institute, University of California
Co-authored papers 2
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 2
University of Minnesota
Co-authored papers 2
University of Oslo
Co-authored papers 2
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 2
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 2