Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H; Consortium on the Genetics of Schizophrenia (COGS); PAARTNERS Study Group, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King M-C, McClellan JM. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell. 2013; 154:518-29.
Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King M-C, Ozcelik T, Tekinay AB. Mitochondrial serine protease HTRA2 G399S in a kindred with essential tremor and Parkinson disease. Proc Natl Acad Sci U S A. 2014; 111:18285-90.
Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King M-C. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. Amer J Hum Genet. 2013; 93:697-710.
Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015; 100:E808-14.
Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King M-C, Gulsuner S, Levy-Lahad E. Loss-of-function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology. 2016; 86:2016-24.
Zhang MY, Jane E, Churpek JE, Walsh T, Lee MK, Keel SB, Loeb KR, Gulsuner S, Pritchard CC, Forouhar M, Gyurkocza B, Schwartz B, Neistadt B, Marquez R, Mariani C, Coats SA, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, Horwitz MS, Godley LA, King M-C, Shimamura A. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015; 47:180-5.
Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King M-C, Swisher EM, Birrer MJ. Inherited Mutations in Women with Ovarian Cancer: an NRG Oncology Study. JAMA Oncology 2016; 2:482-90.
Onat OE*, Gulsuner S*, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. Eur J Hum Genet. 2013; 21:281-5.
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res. 2011; 21:1995-2003.
Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA. 2008; 105:4232-4236.