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Letter
2019

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

Kasapkara, Ç. S., Tümer, L., Gregory, A., Ezgü, F., İnci, A., Derinkuyu, B. E., Fox, R., Rogers, C. & Hayflick, S., Dec 1 2019, In : Acta Neurologica Belgica. 119, 4, p. 623-625 3 p.

Research output: Contribution to journalLetter

1 Scopus citations

Response to Letter to the editor

Gillingham, M., Heitner, S., Lasarev, M. R., Harding, C. & Vockley, J., May 1 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 396-397 2 p.

Research output: Contribution to journalLetter

Neutral tumor evolution?

The PCAWG Evolution and Heterogeneity Working Group, Dec 1 2018, In : Nature genetics. 50, 12, p. 1630-1633 4 p.

Research output: Contribution to journalLetter

14 Scopus citations

Response to Biesecker and Harrison

on behalf of the ACMG/AMP Interpretation of Sequence Variants Work Group 2015, Dec 1 2018, In : Genetics in Medicine. 20, 12, p. 1689-1690 2 p.

Research output: Contribution to journalLetter

2015
1 Scopus citations
2014

Global optimization of somatic variant identification in cancer genomes with a global community challenge

Boutros, P. C., Ewing, A. D., Ellrott, K., Norman, T. C., Dang, K. K., Hu, Y., Kellen, M. R., Suver, C., Bare, J. C., Stein, L. D., Spellman, P. T., Stolovitzky, G., Friend, S. H., Margolin, A. A. & Stuart, J. M., Apr 2014, In : Nature genetics. 46, 4, p. 318-319 2 p.

Research output: Contribution to journalLetter

29 Scopus citations

Reply

Gessner, B. D., Gillingham, M. B., Wood, T. & Koeller, D. M., Aug 2014, In : Journal of Pediatrics. 165, 2, p. 420-422 3 p.

Research output: Contribution to journalLetter

Reply

Gessner, B. D., Gillingham, M. B., Wood, T. & Koeller, D. M., Aug 2014, In : Journal of Pediatrics. 165, 2, p. 419-420 2 p.

Research output: Contribution to journalLetter

2013

Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

Goldman, J. G., Eichenseer, S. R., Berry-Kravis, E., Zimnowodzki, S., Gregory, A., Hogarth, P. & Hayflick, S. J., Sep 1 2013, In : Movement Disorders. 28, 10, p. 1462-1463 2 p.

Research output: Contribution to journalLetter

11 Scopus citations

Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

Dharajiya, N., Chisholm, K. M., Dietz, L., Sue Richards, C., Kharrazi, M. & Schrijver, I., Jun 1 2013, In : Clinical Genetics. 83, 6, p. 598-599 2 p.

Research output: Contribution to journalLetter

1 Scopus citations

Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: A pathogenic link with pantothenate kinase-associated neurodegeneration?

Kaul, B., Goyal, V., Shukla, G., Srivastava, A., Garg, A., Bader, B., Danek, A., Hayflick, S. & Behari, M., Mar 1 2013, In : Neurology India. 61, 2, p. 169-170 2 p.

Research output: Contribution to journalLetter

1 Scopus citations
2012

Imaging striatal dopaminergic function in Phospholipase A2 Group VI-related parkinsonism

Agarwal, P., Hogarth, P., Hayflick, S., Macleod, P., Kuriakose, R., Mckenzie, J., Heffernan, N., Dinelle, K., Sossi, V. & Stoessl, A. J., Nov 1 2012, In : Movement Disorders. 27, 13, p. 1698-1699 2 p.

Research output: Contribution to journalLetter

4 Scopus citations

Studying c-Myc serine 62 phosphorylation in leukemia cells: Concern over antibody cross-reactivity

Tibbitts, D. C., Escamilla-Powers, J. R., Zhang, X. & Sears, R. C., Jun 5 2012, In : Blood. 119, 22, p. 5334-5335 2 p.

Research output: Contribution to journalLetter

2 Scopus citations
2011

Identification of incestuous parental relationships by SNP-based DNA microarrays

Schaaf, C., Scott, D., Wiszniewska, J. & Beaudet, A., Feb 12 2011, In : The Lancet. 377, 9765, p. 555-556 2 p.

Research output: Contribution to journalLetter

42 Scopus citations
2010

Additional support for the association of SLITRK1 var321 and Tourette syndrome

O'Roak, B. J., Morgan, T. M., Fishman, D. O., Saus, E., Alonso, P., Gratacòs, M., Estivill, X., Teltsh, O., Kohn, Y., Kidd, K. K., Cho, J., Lifton, R. P. & State, M. W., May 1 2010, In : Molecular Psychiatry. 15, 5, p. 447-450 4 p.

Research output: Contribution to journalLetter

41 Scopus citations

Clonal chromosomal abnormalities in CD34+/CD-38 hematopoietic cells from cytogenetically normal chronic myeloid leukemia patients with a complete cytogenetic response to tyrosine kinase inhibitors

Bumm, T., Deininger, J., Newell, A. H., Lawce, H., Olson, S., Mauro, M., Druker, B. & Deininger, M., Aug 2010, In : Leukemia. 24, 8, p. 1525-1528 4 p.

Research output: Contribution to journalLetter

6 Scopus citations
2009

Oculocutaneous albinism spectrum

Chiang, P. W., Spector, E. & Tsai, A. C. H., Jul 1 2009, In : American Journal of Medical Genetics, Part A. 149, 7, p. 1590-1591 2 p.

Research output: Contribution to journalLetter

17 Scopus citations
2008

A new hypothesis of OCA1B

Chiang, P. W., Drautz, J. M., Tsai, A. C. H., Spector, E. & Clericuzio, C. L., Nov 15 2008, In : American Journal of Medical Genetics, Part A. 146, 22, p. 2968-2970 3 p.

Research output: Contribution to journalLetter

10 Scopus citations

Chronic phase of ETV6-ABL1 positive CML responds to imatinib

Kawamata, N., Dashti, A., Lu, D., Miller, B., Koeffler, H. P., Schreck, R., Moore, S. & Ogawa, S., Oct 1 2008, In : Genes Chromosomes and Cancer. 47, 10, p. 919-921 3 p.

Research output: Contribution to journalLetter

17 Scopus citations

Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive

Chiang, P. W., Spector, E. & Tsai, A. C. H., Jun 1 2008, In : American Journal of Medical Genetics, Part A. 146, 11, p. 1493-1496 4 p.

Research output: Contribution to journalLetter

11 Scopus citations
2007

Involvement of deoxycytidylate deaminase in the response to Sn1-type methylation DNA damage in budding yeast

Liskay, R. M., Wheeler, L. J., Mathews, C. K. & Erdeniz, N., Sep 4 2007, In : Current Biology. 17, 17, p. R755-R757

Research output: Contribution to journalLetter

3 Scopus citations

Response to "How exhaustive are reviews in research review articles?" [5]

Tsai, A. C. H. & Johnson, J. P., Jun 1 2007, In : American Journal of Medical Genetics, Part A. 143, 11, p. 1258-1259 2 p.

Research output: Contribution to journalLetter

Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign [1]

Hayflick, S. & Westaway, S., Dec 1 2006, In : Pediatric Radiology. 36, 12, 1 p.

Research output: Contribution to journalLetter

3 Scopus citations

Top-down standards will not serve systems biology [1]

Quackenbush, J., Stoeckert, C., Ball, C., Brazma, A., Gentleman, R., Huber, W., Irizarry, R., Salit, M., Sherlock, G., Spellman, P. & Winegarden, N., Mar 2 2006, In : Nature. 440, 7080, 1 p.

Research output: Contribution to journalLetter

12 Scopus citations
2005

Cytokine polymorphisms and chronic lung disease in small preterm infants [4]

Lin, H. C., Tsai, F. J., Tsai, C. H., Hsieh, Y. Y. & Hsu, C. M., Jan 1 2005, In : Archives of Disease in Childhood: Fetal and Neonatal Edition. 90, 1, p. F93-F94

Research output: Contribution to journalLetter

13 Scopus citations

De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3) [3]

Tsai, A. C. H., DiGiovanni, M., Walton, C. & Cotter, P. D., Apr 15 2005, In : American Journal of Medical Genetics. 134 A, 2, p. 229-230 2 p.

Research output: Contribution to journalLetter

10 Scopus citations

Systemic lupus erythematosus and other autoimmune disorders in children with noonan syndrome [4]

Lopez-Rangel, E., Malleson, P. N., Lirenman, D. S., Roa, B., Wiszniewska, J. & Lewis, M. E. S., Dec 15 2005, In : American Journal of Medical Genetics. 139 A, 3, p. 239-242 4 p.

Research output: Contribution to journalLetter

15 Scopus citations
2004

Limb girdle muscular dystrophy: Use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort [2]

Hedge, M. R., Wu, F., Chong, B., Chin, E. L. H., Hutchinson, D. O., Richards, C. S., Khadilkar, S. & Love, D. R., Jan 1 2004, In : Clinical Genetics. 65, 1, p. 55-60 6 p.

Research output: Contribution to journalLetter

4 Scopus citations

Microarray data standards: An open letter

Ball, C., Brazma, A., Causton, H., Chervitz, S., Edgar, R., Hingamp, P., Matese, J. C., Parkinson, H., Quackenbush, J., Ringwald, M., Sansone, S. A., Sherlock, G., Spellman, P., Stoeckert, C., Tateno, Y., Taylor, R., White, J. & Winergarden, N., Aug 1 2004, In : Environmental health perspectives. 112, 12, p. A666-A667

Research output: Contribution to journalLetter

22 Scopus citations
2002

8p23 duplication reconsidered: Is it a true euchromatic variant with no clinical manifestation? [7]

Tsai, C. H., Graw, S. L. & McGavran, L., Oct 1 2002, In : Journal of medical genetics. 39, 10, p. 769-774 6 p.

Research output: Contribution to journalLetter

24 Scopus citations

A guide to microarray experiments - An open letter to the scientific journals [1]

Ball, C. A., Sherlock, G., Parkinson, H., Rocca-Sera, P., Brooksbank, C., Causton, H. C., Cavalieri, D., Gaasterland, T., Hingamp, P., Holstege, F., Ringwald, M., Spellman, P., Stoeckert, C. J., Stewart, J. E., Taylor, R., Brazma, A. & Quackenbush, J., Sep 28 2002, In : Lancet. 360, 9338, 1 p.

Research output: Contribution to journalLetter

15 Scopus citations

Hallervorden spatz syndrome (pantothenate kinase associated neurodegeneration) in two sardinian brother with homozygous mutation in pank 2 gene [4]

Cossu, G., Melis, M., Floris, G., Hayflick, S. J. & Spissu, A., Dec 31 2002, In : Journal of Neurology. 249, 11, p. 1599-1600 2 p.

Research output: Contribution to journalLetter

14 Scopus citations

Standards for microarray data [1]

Ball, C. A., Sherlock, G., Parkinson, H., Rocca-Sera, P., Brooksbank, C., Causton, H. C., Cavalieri, D., Gaasterland, T., Hingamp, P., Holstege, F., Ringwald, M., Spellman, P., Stoeckert, C. J., Stewart, J. E., Taylor, R., Brazma, A. & Quackenbush, J., Oct 18 2002, In : Science. 298, 5593, 1 p.

Research output: Contribution to journalLetter

137 Scopus citations
2001

Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma [2]

Chadwick, R. B., Pyatt, R. E., Niemann, T. H., Richards, S. K., Johnson, C. K., Stevens, M. W., Meek, J. E., Hampel, H., Prior, T. W. & De la Chapelle, A., Jul 30 2001, In : Journal of medical genetics. 38, 7, p. 461-466 6 p.

Research output: Contribution to journalLetter

30 Scopus citations
1999

Deletion 4q34.2 [2] (multiple letters)

Zackai, E. H., Tsai, C. H., Van Dyke, D. L. & Feldman, G. L., Sep 10 1999, In : American Journal of Medical Genetics. 86, 2, 1 p.

Research output: Contribution to journalLetter

1998

Heterobinucleating ligand-induced structural and chemical variations in [(L)Fe(III)-O-Cu(II)]+ μ-oxo complexes [9]

Obias, H. V., Van Strijdonck, G. P. F., Lee, D. H., Ralle, M., Blackburn, N. J. & Karlin, K. D., Sep 23 1998, In : Journal of the American Chemical Society. 120, 37, p. 9696-9697 2 p.

Research output: Contribution to journalLetter

47 Scopus citations

Peroxo-, oxo-, and hydroxo-bridged dicopper complexes: Observation of exogenous hydrocarbon substrate oxidation [3]

Obias, H. V., Lin, Y., Murthy, N. N., Pidcock, E., Solomon, E. I., Ralle, M., Blackburn, N. J., Neuhold, Y. M., Zuberbuhler, A. D. & Karlin, K. D., Dec 16 1998, In : Journal of the American Chemical Society. 120, 49, p. 12960-12961 2 p.

Research output: Contribution to journalLetter

163 Scopus citations

The menkes disease protein binds copper via novel 2-coordinate Cu(I)- cysteinates in the N-terminal domain [7]

Ralle, M., Cooper, M. J., Lutsenko, S. & Blackburn, N. J., Dec 30 1998, In : Journal of the American Chemical Society. 120, 51, p. 13525-13526 2 p.

Research output: Contribution to journalLetter

58 Scopus citations
1997

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of marfan syndrome

Pereira, L., Andrikopoulos, K., Tian, J., Lee, S. Y., Keene, D. R., Ono, R., Reinhardt, D. R., Sakai, L. Y., Biery, N. J., Bunton, T., Dietz, H. C. & Ramirez, F., Oct 1997, In : Nature genetics. 17, 2, p. 218 1 p.

Research output: Contribution to journalLetter

281 Scopus citations
1995

Medical school core curriculum in genetics [6]

Hayflick, S. J. & Friedman, J. M., Jan 1 1995, In : American Journal of Human Genetics. 57, 6, p. 1514-1515 2 p.

Research output: Contribution to journalLetter

1993

Factors associated with limb anomalies after chorionic villus sampling

Bissonnette, J. M., Busch, W. L., Buckmaster, J. G., Olson, S. B. & Nesler, C. L., Dec 1993, In : Prenatal Diagnosis. 13, 12, p. 1163-1165 3 p.

Research output: Contribution to journalLetter

8 Scopus citations
1992

Letter to the editor: Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma [2]

Webb, D. W., Osborne, J. P., Harding, C. O. & Pagon, R. A., Jan 1 1992, In : American Journal of Medical Genetics. 42, 5, p. 754-755 2 p.

Research output: Contribution to journalLetter

4 Scopus citations

Minimum qualifications for directors: DNA-based genetic-testing laboratories [10]

Murphy, P., Amos, J., Carpenter, N., Fenwick, R., Hodes, M. E., Kelly, T., Matteson, K., Seltzer, W., Spence, J. E., Thibodeau, S., Venne, V., Wilson, V. & Zonana, J., Jan 1 1992, In : American Journal of Human Genetics. 51, 4, p. 910-912 3 p.

Research output: Contribution to journalLetter

3 Scopus citations
1984

Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis

Macleod, P. M., Dolman, C. L., Nickel, R. E., Chang, E., Zonana, J. & Silvey, K., Mar 1 1984, In : New England Journal of Medicine. 310, 9, 1 p.

Research output: Contribution to journalLetter

12 Scopus citations
1982

CHARGE association.

Pagon, R. A., Zonana, J. & Graham, J. M., Nov 1 1982, In : Pediatrics. 70, 5, p. 827-828 2 p.

Research output: Contribution to journalLetter

9 Scopus citations