Mohammad Shboul

Author PubWeight™ 12.98^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Mutations in PYCR1 cause cutis laxa with progeroid features.	Nat Genet	2009	1.89
2	TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.	Am J Hum Genet	2011	1.65
3	C5orf42 is the major gene responsible for OFD syndrome type VI.	Hum Genet	2013	1.24
4	Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.	Am J Hum Genet	2010	1.24
5	Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.	Nat Genet	2012	1.08
6	Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.	Neurogenetics	2014	0.92
7	Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program.	Curr Biol	2015	0.91
8	Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.	Nat Genet	2012	0.89
9	Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry.	Mol Biol Cell	2012	0.82
10	Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex.	Mol Biol Cell	2013	0.79
11	The snRNA-processing complex, Integrator, is required for ciliogenesis and dynein recruitment to the nuclear envelope via distinct mechanisms.	Biol Open	2013	0.79
12	ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.	Clin Chem Lab Med	2010	0.76
13	Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program.	Curr Biol	2017	0.75