| Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K. et al.
Am. J. Hum. Genet. 84:780-791(2009) · Mapped (1) |
| Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. Jiang Y.-H., Wauki K., Liu Q., Bressler J., Pan Y., Kashork C.D., Shaffer L.G., Beaudet A.L.
BMC Genomics 9:50-50(2008) · UniProtKB (3) |
| Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome. Han J.Y., Shin J.H., Han M.S., Je G.H., Shaffer L.G.
J. Hum. Genet. 51:641-643(2006) · Mapped (6) |
| Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Wakui K., Gregato G., Ballif B.C., Glotzbach C.D., Bailey K.A., Kuo P.L., Sue W.C., Sheffield L.J., Irons M., Gomez E.G. et al.
Eur. J. Hum. Genet. 13:528-540(2005) · Mapped (1) |
| Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Mendoza-Londono R., Kashork C.D., Shaffer L.G., Krance R., Plon S.E.
Genes Chromosomes Cancer 42:82-86(2005) · Mapped (8) |
| Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Babcock M., Pavlicek A., Spiteri E., Kashork C.D., Ioshikhes I., Shaffer L.G., Jurka J., Morrow B.E.
Genome Res. 13:2519-2532(2003) · UniProtKB (1) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al.
Science 300:767-772(2003) · UniProtKB (658) |
| Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Inoue K., Osaka H., Thurston V.C., Clarke J.T., Yoneyama A., Rosenbarker L., Bird T.D., Hodes M.E., Shaffer L.G., Lupski J.R.
Am. J. Hum. Genet. 71:838-853(2002) · Mapped (7) |
| Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc. Saxena A., Wong L.H., Kalitsis P., Earle E., Shaffer L.G., Choo K.H.
Hum. Mol. Genet. 11:2319-2329(2002) · Mapped (1) |
| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W., Yan J., Stankiewicz P., Park S.-S., Walz K., Boerkoel C.F., Potocki L., Shaffer L.G., Devriendt K., Nowaczyk M.J.M. et al.
Genome Res. 12:713-728(2002) · UniProtKB (7) |
| Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients. Wu Y.-Q., Bejjani B.A., Tsui L.-C., Mandel A., Osborne L.R., Shaffer L.G.
Am. J. Med. Genet. 109:121-124(2002) · UniProtKB (1) |
| Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Das P., Stockton D.W., Bauer C., Shaffer L.G., D'Souza R.N., Wright T., Patel P.I.
Hum. Genet. 110:371-376(2002) · Mapped (5) |
| Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/-mice. Colmenares C., Heilstedt H.A., Shaffer L.G., Schwartz S., Berk M., Murray J.C., Stavnezer E.
Nat. Genet. 30:106-109(2002) · Mapped (5) |
| Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. International IP Consortium
Am. J. Hum. Genet. 69:1210-1217(2001) · Mapped (4) |
| Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily. Wu Y.-Q., Lin X., Liu C.-M., Jamrich M., Shaffer L.G.
Mol. Genet. Metab. 72:343-350(2001) · UniProtKB (2) · Mapped (2) |
| Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Wu Y.-Q., Badano J.L., McCaskill C., Vogel H., Potocki L., Shaffer L.G.
Am. J. Hum. Genet. 67:1327-1332(2000) · UniProtKB (1) · Mapped (1) |
| Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. Britton R.A., Chen S.M., Wallis D., Koeuth T., Powell B.S., Shaffer L.G., Largaespada D., Jenkins N.A., Copeland N.G., Court D.L. et al.
Genomics 67:78-82(2000) · UniProtKB (1) · Mapped (22) |
| Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene. Li D., Burch P., Gonzalez O., Kashork C.D., Shaffer L.G., Bachinski L.L., Roberts R.
Biochem. Biophys. Res. Commun. 274:117-123(2000) · UniProtKB (1) |
| Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. Tubb B.E., Bardien-Kruger S., Kashork C.D., Shaffer L.G., Ramagli L.S., Xu J., Siciliano M.J., Bryan J.
Genomics 65:146-156(2000) · UniProtKB (1) · Mapped (1) |
| Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene. Bowles K.R., Gibson J., Wu J., Shaffer L.G., Towbin J.A., Bowles N.E.
Hum. Genet. 105:354-359(1999) · UniProtKB (1) |
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