| 1 |
MUBEEN H, FAROOQ M, REHMAN AU, ZUBAIR M, HAQUE A |
Gene expression and transcriptional regulation driven by transcription factors involved in congenital heart defects |
Irish Journal of Medical Science (1971-) |
595-604 |
2023 |
192 |
1.7
|
|
| 2 |
ONITSUKA M, FAROOQ M, IQBAL MN, YASUNO S, SHIMOMURA Y. |
A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasis |
Journal of Dermatology |
664-671 |
2023 |
50 |
3.468
|
|
| 3 |
CARAFFI SG, POLLAZZON M, FAROOQ M, FATIMA A, LARSEN LA, ZUNTINI R, NAPOLI M, GARAVELLI L. |
MCPH1: A Novel Case Report and a Review of the Literature |
Genes (Basel) |
634 |
2022 |
13 |
4.14
|
|
| 4 |
SANAM FARYAL, MUHAMMAD FAROOQ, UZMA ABDULLAH, ZAFAR ALI, SAADIA MARYAM SAADI, FARID ULLAH, KAMAL KHAN, YASRA SARWAR, MUHAMMAD SHER, ANUJA ARORA CHOPRA, SHAHID M BAIG |
A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review |
European journal of medical genetics |
104226 |
2021 |
64 |
2.465
|
|
| 5 |
AMBRIN FATIMA, UZMA ABDULLAH, MUHAMMAD FAROOQ, YUAN MANG, MANA M MEHRJOUY, MARIA ASIF, ZAFAR ALI, NIELS TOMMERUP, SHAHID M BAIG |
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families |
Genes |
1899 |
2021 |
12 |
4.14
|
|
| 6 |
MUHAMMAD FAROOQ, LOUISE LINDB?K, NICOLAI KROGH, CANAN DOGANLI, CECILIE KELLER, MAREN MoNNICH, ANDRe BRaS GONcALVES, SRINIVASAN SAKTHIVEL, YUAN MANG, AMBRIN FATIMA, VIVI S?GAARD ANDERSEN, MUHAMMAD S. HUSSAIN, HANS EIBERG, LARS HANSEN, KLAUS WILBRANDT |
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis |
Nature Communications |
5816 |
2020 |
11 |
17.69
|
|
| 7 |
MUHAMMAD SHER, MUHAMMAD FAROOQ, UZMA ABDULLAH, ZAFAR ALI, SANAM FARYAL, MOHAMMAD ZAKARIA, FARID ULLAH, HASSAN BUKHARI, RIKKE S M?LLER, NIELS TOMMERUP, SHAHID MAHMOOD BAIG |
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family |
International Journal of Neuroscience |
890-895 |
2019 |
129 |
2.59
|
|
| 8 |
AYESHA SHAHID, MUHAMMAD ISHFAQ, MUHAMMAD SAJJAD AHMAD, SANA MALIK, MUHAMMAD FAROOQ, ZHU HUI, ASHWAQ HASSAN BATAWI, MANAL ESAM SHAFI, AKRAM AHMED ALOQBI, MUNAZZA GULL, MUHAMMAD AAMER MEHMOOD |
Bioenergy potential of the residual microalgal biomass produced in city wastewater assessed through pyrolysis, kinetics and thermodynamics study to design algal biorefinery |
Bioresource technology |
121701 |
2019 |
289 |
11.88
|
|
| 9 |
MUHAMMAD FAROOQ, AMBRIN FATIMA, YUAN MANG, LARS HANSEN, KLAUS WILBRANDT KJAER, SHAHID MAHMOOD BAIG, LARS ALLAN LARSEN, NIELS TOMMERUP |
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family |
Journal of human genetics |
271-273 |
2016 |
61 |
3.755
|
|
| 10 |
MUHAMMAD FAROOQ, MAZEN KURBAN, ATSUSHI FUJIMOTO, HIROKI FUJIKAWA, OSSAMA ABBAS, GEORGES NEMER, JESSICA SALIBA, RIMA SLEIMAN, MONA TOFAILI, ABDUL?GHANI KIBBI, MASAAKI ITO, YUTAKA SHIMOMURA |
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family |
Human mutation |
578-581 |
2013 |
34 |
4.7
|
|
| 11 |
HIROKI FUJIKAWA, M FAROOQ, A FUJIMOTO, MASAAKI ITO, YUTAKA SHIMOMURA |
Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia |
British Journal of Dermatology |
629-633 |
2013 |
168 |
11.11
|
|
| 12 |
MUHAMMAD FAROOQ, HIROYUKI NAKAI, ATSUSHI FUJIMOTO, HIROKI FUJIKAWA, ASAKO MATSUYAMA, NAOYUKI KARIYA, ATSUKO AIZAWA, HIROSHI FUJIWARA, MASAAKI ITO, YUTAKA SHIMOMURA |
Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis |
Human mutation |
176-183 |
2013 |
34 |
4.7
|
|
| 13 |
MUHAMMAD FAROOQ, RASHA MOHAMMAD MOUSTAFA, ATSUSHI FUJIMOTO, HIROKI FUJIKAWA, OSSAMA ABBAS, ABDUL GHANI KIBBI, MAZEN KURBAN, YUTAKA SHIMOMURA |
Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin |
Dermatology |
277-284 |
2012 |
224 |
5.197
|
|
| 14 |
ATSUSHI FUJIMOTO, MUHAMMAD FAROOQ, HIROKI FUJIKAWA, ASUKA INOUE, MANABU OHYAMA, RITSUKO EHAMA, JOTARO NAKANISHI, MOTOFUMI HAGIHARA, TOKURO IWABUCHI, JUNKEN AOKI, MASAAKI ITO, YUTAKA SHIMOMURA |
A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis |
Journal of investigative dermatology |
2342-22349 |
2012 |
132 |
7.596
|
|
| 15 |
M FAROOQ, M ITO, M NAITO, Y SHIMOMURA |
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene |
British Journal of Dermatology |
425-431 |
2011 |
165 |
11.11
|
|
| 16 |
MUHAMMAD SAJID HUSSAIN, SHAHID MAHMOOD BAIG, SASCHA NEUMANN, GUDRUN NuRNBERG, MUHAMMAD FAROOQ, ILYAS AHMAD, THOMAS ALEF, HANS CHRISTIAN HENNIES, MARTIN TECHNAU, JANINE ALTMuLLER, PETER FROMMOLT, HOLGER THIELE, ANGELIKA ANNA NOEGEL, PETER NuRNBERG |
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function |
The American Journal of Human Genetics |
871-878 |
2011 |
90 |
11.04
|
|
| 17 |
SHAHID M BAIG, ALEXANDRA KOSCHAK, ANDREAS LIEB, MATHIAS GEBHART, CLAUDIA DAFINGER, GUDRUN NuRNBERG, AMJAD ALI, ILYAS AHMAD, MARTINA J SINNEGGER-BRAUNS, NIELS BRANDT, JUTTA ENGEL, MATTEO E MANGONI, MUHAMMAD FAROOQ, HABIB U KHAN, PETER NuRNBERG, JoRG S |
Loss of Cav1. 3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness |
Nature neuroscience |
77-84 |
2011 |
14 |
28.77
|
|
| 18 |
PABLO VILLAVICENCIO-LORINI, PIA KUSS, JULIA FRIEDRICH, JULIA HAUPT, MUHAMMED FAROOQ, SEVAL TuRKMEN, DENIS DUBOULE, JOCHEN HECHT, STEFAN MUNDLOS |
Homeobox genes d11?d13 and a13 control mouse autopod cortical bone and joint formation |
The Journal of clinical investigation |
1994-2004 |
2010 |
120 |
19.45
|
|