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Sajid Malik

Zentrum für Humangenetik, Philipps-Universität Marburg, Bahnhofstr. 7, 35037 Marburg, Germany|Department of Biological Sciences, Quaid-I-Azam University, 45320 Islamabad, Pakistan

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A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

Ashfaque Ahmed,Meng Wang, Rizwan Khan, Abid Ali Shah,Hui Guo,Sajid Malik,Kun Xia,Zhengmao Hu

BMC medical genomics, no. 1 (2021): 2

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A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds

Rizwan Khan, Rana Muhammad Kamran Shabbir, Irum Raza, Umair Abdullah, Muhammad Asif Naeem, Ashfaque Ahmed,Sajid Malik,Zhengmao Hu,Kun Xia

Ophthalmic genetics, pp.1-6, (2020)

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Talipes equinovarus or Clubfoot: A review of study approaches, management and trends in Pakistan

Khadija Murtaza, Zahra Saleem,Sajid Malik

Pakistan Journal of Medical Sciences, no. 6 (2020): 1414-1420

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Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles

Esra Yıldız Bölükbaşı, Rana Muhammad Kamran Shabbir,Sajid Malik, Aslıhan Tolun

Journal of human genetics, pp.1-9, (2020)

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Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

Qandeel Zahra, Çağla Çakmak, Mine Koprulu, Muhammad Shuaib, Nara Sobreira, Louisa Kalsner, Joselito Sobreira, Maria J Guillen Sacoto,Sajid Malik, Aslıhan Tolun

Journal of human genetics, no. 12 (2020): 1115-1123

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Novel EDAR mutation in tooth agenesis and variable associated features

Sara Mumtaz, Gökhan Nalbant, Esra Yıldız Bölükbaşı, Zele Huma,Nafees Ahmad, Aslıhan Tolun,Sajid Malik

European Journal of Medical Genetics, no. 9 (2020): 103926

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A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

Caixia Xu, Xiaoming Yang, Hang Zhou, Yongyong Li, Chao Xing, Taifeng Zhou, Dongmei Zhong,Chengjie Lian, Mei Yan,Tao Chen, Zhiheng Liao,Bo Gao

Genetics in medicine : official journal of the American College of Medical Genetics, pp.1-10, (2019)

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Epidemiological study of congenital and hereditary anomalies in Sialkot District of Pakistan revealed a high incidence of limb and neurological disorders

Nadeem Ahmad Bhatti,Sara Mumtaz,Sajid Malik

Asian Biomedicine, no. 2 (2019): 49-60

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Epidemiological and clinical correlates of oral squamous cell carcinoma in patients from north-west Pakistan

Rawail Ahmed,Sajid Malik, Muhammad Fiaz Khan, Muhammad Rauf Khattak

JPMA. The Journal of the Pakistan Medical Association, no. 8 (2019): 1074-1078

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Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi families with atopic eczema and additional risk genes

Manuela Pigors, John EA Common, Xuan Fei Colin C Wong,Sajid Malik,Claire A Scott, Niloofar Tabarra, Herty Liany,Jianjun Liu,Vachiranee Limviphuvadh,Sebastian Maurer-Stroh, Mark BY Tang,Nicholas Lench

Journal of Investigative Dermatology, no. 12 (2018): 2674-2677

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Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility

Yeşerin Yıldırım, Toufik Ouriachi,Ute Woehlbier, Wahiba Ouahioune,Mahmut Balkan,Sajid Malik,Aslıhan Tolun

European journal of human genetics : EJHG, (2018)

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Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and additional risk genes

Manuela Pigors,John E A Common, Xuan Fei Colin C Wong,Sajid Malik,Claire A Scott, Niloofar Tabarra,Herty Liany,Jianjun Liu,Vachiranee Limviphuvadh,Sebastian Maurer-Stroh,Mark B Y Tang, Nicholas Lench

Journal of Investigative Dermatology, no. 12 (2018): 2674-2677

Cited by1WOSBibtex

Homozygous mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly

Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad,Sajid Malik,Aslıhan Tolun

Journal of medical genetics, (2018)

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Homozygous mutation in a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

Esra Yıldız Bölükbaşı,Sara Mumtaz,Muhammad Afzal,Ute Woehlbier,Sajid Malik,Aslıhan Tolun

Journal of medical genetics, no. 3 (2018): 189-197

Cited by1WOSBibtex

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation

Sara Mumtaz, Esra Yıldız,Karmoon Lal,Aslıhan Tolun,Sajid Malik

European Journal of Medical Genetics, no. 5 (2017): 268-274

Cited by1WOSBibtex

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX

Skeletal radiology, (2017)

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Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms

Muhammad Afzal, Qamar Zaman,Uwe Kornak,Stefan Mundlos,Sajid Malik,Ricarda Flöttmann

European Journal of Medical Genetics, no. 8 (2017): 421-425

Cited by4WOSBibtex

Analysis of Genetic Differentiation at ABO and Rh Loci among the Pashtun Populations Inhabiting Lower Khyber Pakhtunkhwa, Pakistan

Atta Ur Rehman, Sher Ali,Sajid Malik

Pakistan Journal of Zoology, no. 1 (2017): 387-389

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Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain

Esra Yıldız Bölükbaşı,Muhammad Afzal,Sara Mumtaz,Nafees Ahmad,Sajid Malik,Aslıhan Tolun

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 9 (2017): 2494-2499

Cited by2WOSBibtex

Determinants of consanguinity and inbreeding coefficient in the multiethnic population of Mardan, Khyber Pakhtunkhwa, Pakistan

Muhammad Tufail, Atta Ur Rehman,Sajid Malik

Asian Biomedicine, no. 6 (2017): 451-460

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