Asif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S.; Hochscherf, Jennifer; Abdullah, Uzma; Honing, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A.; Altmuller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M.; Rudy, Natasha L.; De Luca, Chiara; Fortugno, Paola; White, Susan M.; Krawitz, Peter; Hurst, Anna C. E.; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nurnberg, Peter; Hussain, Muhammad Sajid

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

GENETICS IN MEDICINE

IF6.2

2021-11-0114

OAAI

Iqbal, Maria; Maroofian, Reza; Cavdarli, Busranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K.; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; de Almeida, Tobias Scherf; Molinari, Florence; Mignon-Ravix, Cecile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T.; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A.; Budde, Birgit; Altmueller, Janine; Motameny, Susanne; Hoehne, Wolfgang; Houlden, Henry; Nuernberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gokhan

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

NATURE COMMUNICATIONS

IF15.7

2020-11-1636

OAAI

Mediating the Fate of Cancer Cell Uptake: Dual-Targeted Magnetic Nanovectors with Biotin and Folate Surface Ligands

ACS BIOMATERIALS SCIENCE & ENGINEERING

IF5.5

2020-10-2218

PREAI

Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2019-06-1926

OAAI

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2018-09-0490

OAAI

Braun, Daniela A.; Lovric, Svjetlana; Schapiro, David; Schneider, Ronen; Marquez, Jonathan; Asif, Maria; Hussain, Muhammad Sajid; Daga, Ankana; Widmeier, Eugen; Rao, Jia; Ashraf, Shazia; Tan, Weizhen; Lusk, C. Patrick; Kolb, Amy; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A.; Eddy, Kaitlyn; Kitzler, Thomas M.; Shril, Shirlee; Moawia, Abubakar; Schrage, Kathrin; Khayyat, Arwa Ishaq A.; Lawson, Jennifer A.; Gee, Heon Yung; Warejko, Jillian K.; Hermle, Tobias; Majmundar, Amar J.; Hugo, Hannah; Budde, Birgit; Motameny, Susanne; Altmueller, Janine; Noegel, Angelika Anna; Fathy, Hanan M.; Gale, Daniel P.; Waseem, Syeda Seema; Khan, Ayaz; Kerecuk, Larissa; Hashmi, Seema; Mohebbi, Nilufar; Ettenger, Robert; Serdaroglu, Erkin; Alhasan, Khalid A.; Hashem, Mais; Goncalves, Sara; Ariceta, Gema; Ubetagoyena, Mercedes; Antonin, Wolfram; Baig, Shahid Mahmood; Alkuraya, Fowzan S.; Shen, Qian; Xu, Hong; Antignac, Corinne; Lifton, Richard P.; Mane, Shrikant; Nuernberg, Peter; Khokha, Mustafa K.; Hildebrandt, Friedhelm

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

ANNALS OF NEUROLOGY

IF7.7

2017-10-1467

PREAI

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

HUMAN GENETICS

IF3.6

2015-11-3031

PREAI

Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2014-11-0142

OAAI

Hussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin-ichi; Altmueller, Janine; Thiele, Holger; Nuernberg, Gudrun; Moosa, Shahida; Yigit, Goekhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart, Jill E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Noegel, Angelika Anna; Newman, William G.; Nuernberg, Peter

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

NATURE GENETICS

IF31.8

2014-10-26152

OAAI

Martin, Carol-Anne; Ahmad, Ilyas; Klingseisen, Anna; Hussain, Muhammad Sajid; Bicknell, Louise S.; Leitch, Andrea; Nuernberg, Gudrun; Toliat, Mohammad Reza; Murray, Jennie E.; Hunt, David; Khan, Fawad; Ali, Zafar; Tinschert, Sigrid; Ding, James; Keith, Charlotte; Harley, Margaret E.; Heyn, Patricia; Mueller, Rolf; Hoffmann, Ingrid; Cormier-Daire, Valerie; Dollfus, Helene; Dupuis, Lucie; Bashamboo, Anu; McElreavey, Kenneth; Kariminejad, Ariana; Mendoza-Londono, Roberto; Moore, Anthony T.; Saggar, Anand; Schlechter, Catie; Weleber, Richard; Thiele, Holger; Altmueller, Janine; Hoehne, Wolfgang; Hurles, Matthew E.; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nuernberg, Peter; Jackson, Andrew P.

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

HUMAN MOLECULAR GENETICS

IF3.2

2014-06-2063

OAAI

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

HUMAN MOLECULAR GENETICS

IF3.2

2013-08-04100

OAAI

Meeting Report - Building a Centrosome

JOURNAL OF CELL SCIENCE