Hirata H*, Nanda I*, van Riesen A*, McMichael G*, Hu H*, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, Maclennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Huebner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. Mutations of ZC4H2 are associated with intellectual disability and arthrogryposis multiplex congenita through impairing central and peripheral synaptic plasticity. Am J Hum Genet.2013 Apr 24. pii: S0002-9297(13)00129-8.(*equal contribution)
Zanni G, Cali T, Kalscheuer VM, Ottolini D, Barresi S, Lebrun N, Montecchi-Palazzi L, Hu H, Chelly J, Bertini E, Brini M, Carafoli E. A Mutation Of Plasma Membrane Ca2+ ATPase isoform 3 in a Family With X-Linked Congenital Cerebellar Ataxia Impairs Ca2+ Homeostasis. Proc Natl Acad Sci U S A.2012 Sep 4;109(36):14514-9.
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. A non-coding, regulatory mutation implicates HCFC1 in non-syndromic intellectual disability. Am J Hum Genet.2012 Oct 5;91(4):694-702.
Zanni G, Cali T, Kalscheuer VM, Ottolini D, Barresi S, Lebrun N, Montecchi-Palazzi L, Hu H, Chelly J, Bertini E, Brini M, Carafoli E. A Mutation Of Plasma Membrane Ca2+ ATPase isoform 3 in a Family With X-Linked Congenital Cerebellar Ataxia Impairs Ca2+ Homeostasis. Proc Natl Acad Sci U S A.2012 Sep 4;109(36):14514-9.
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. A non-coding, regulatory mutation implicates HCFC1 in non-syndromic intellectual disability. Am J Hum Genet. 2012 Oct 5;91(4):694-702.
Hu H*, Eggers K*, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Muehlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW. ST3GAL3 mutations cause non-syndromic cognitive impairment. Am J Hum Genet. 2011 Sep 9;89(3):407-14.(*equal contribution)
Najmabadi H, Hu H*, Garshasbi M*, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puettmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011 Sep 21;478(7367):57-63.(*equal contribution)
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability. Am J Hum Genet. 2011 Jul 15;89(1):176-82.
Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A. 2011;108(30):12390-5.
Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H. Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet. 2011 May 13;88(5):628-34.