Professor Jill Clayton-Smith (MB ChB MD FRCP) - publications

Unknown

• Boyes, L., Wallace, A., Krajewska-Walasek, M., Chrzanowska, K., Clayton-Smith, J. & Ramsden, S Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay. Eur J Med Genet, 49(6), 472-80. eScholarID:78951 | PMID:16740422 | DOI:10.1016/j.ejmg.2006.04.004
• Cilliers, D., Parveen, R., Clayton, P., Cairns, S., Clarke, S., Shalet, S., Black, G., Newman, W. & Clayton-Smith, J A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. Eur J Med Genet, 50(3), 216-23. eScholarID:78944 | PMID:17369115 | DOI:10.1016/j.ejmg.2007.01.003
• Fitzgibbon, G., Clayton-Smith, J., Banka, S., Hamilton, S., Needham, M., Dore, J., Miller, J., Pawson, G. & Gaunt, L Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report. J Med Case Reports, 2, 355. eScholarID:78929 | PMID:19019217 | DOI:10.1186/1752-1947-2-355
• Kant, S., Kriek, M., Walenkamp, M., Hansson, K., van Rhijn, A., Clayton-Smith, J., Wit, J. & Breuning, M Tall stature and duplication of the insulin-like growth factor I receptor gene. Eur J Med Genet, 50(1), 1-10. eScholarID:78949 | PMID:17056309 | DOI:10.1016/j.ejmg.2006.03.005
• Kini, U., Lee, R., Jones, A., Smith, S., Ramsden, S., Fryer, A. & Clayton-Smith, J Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero. Eur J Med Genet, 50(6), 411-20. eScholarID:78940 | PMID:17951123 | DOI:10.1016/j.ejmg.2007.08.002
• Urquhart, J., Black, G. & Clayton-Smith, J 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet, 52(6), 454-7. eScholarID:78922 | PMID:19576302 | DOI:10.1016/j.ejmg.2009.06.003

2011

• Cohen MJ, Meador KJ, Browning N, Baker GA, Clayton-Smith J, Kalayjian LA, Kanner A, Liporace JD, Pennell PB, Privitera M, Loring DW. (2011). Fetal anti-epileptic drug exposure;:motor, adaptive and emotional/behavioural functioning at 3 years. Epilepsy and Behaviour, 22(2), 240-246. eScholarID:134217
• Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D. (2011). Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. American Journal of Medical Genetics Part A, 155(8), 1857-1864. eScholarID:134218
• Robinson DO, Lin F, Lyon M, Raponi M, Cross E, White HE, Cox H, Clayton-Smith J, Baralle D. (2011). Systematic screening of FBN1 gene unclassified missense variants for splice anomalies. Clinical Genetics, 1399-1404. eScholarID:134216
• Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. (2011). Whole exome sequencing identifies mutations in histone acetyltransferase KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. American Joiurnal of Human Genetics, 89(5), 7. eScholarID:144049 | DOI:10.1016/j.ajhg.2011.10.008
• Banka, S., Fitzgibbon, G., Gaunt, L., Rankin, W. & Clayton-Smith, J (2011). A Novel 800 kb Microduplication of Chromosome 16q22.1 Resulting in Learning Disability and Epilepsy May Explain Phenotypic Variability in a Family With 15q13 Microdeletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(6), 1453-1457. eScholarID:127551 | DOI:10.1002/ajmg.a.34034
• Hannibal, M., Buckingham, K., Ng, S., Ming, J., Beck, A., McMillin, M., Gildersleeve, H., Bigham, A., Tabor, H., Mefford, H., Cook, J., Yoshiura, K., Matsumoto, T., Matsumoto, N., Miyake, N., Tonoki, H., Naritomi, K., Kaname, T., Nagai, T., Ohashi, H., Kurosawa, K., Hou, J., Ohta, T., Liang, D., Sudo, A., Morris, C., Banka, S., Black, G., Clayton-Smith, J., Nickerson, D., Zackai, E., Shaikh, T., Donnai, D., Niikawa, N., Shendure, J. & Bamshad, M (2011). Spectrum of MLL2 (ALR) Mutations in 110 Cases of Kabuki Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(7), 1511-1516. eScholarID:127570 | DOI:10.1002/ajmg.a.34074
• Lehalle, D., Williams, C., Siu, V. & Clayton-Smith, J (2011). Fetal Pads as a Clue to the Diagnosis of Pitt-Hopkins Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(7), 1685-1689. eScholarID:127564 | DOI:10.1002/ajmg.a.34055
• Meador, K., Baker, G., Browning, N., Cohen, M., Clayton-Smith, J., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & Study Grp, N (2011). Foetal antiepileptic drug exposure and verbal versus non-verbal abilities at three years of age. BRAIN, 134, 396-404. eScholarID:127566 | DOI:10.1093/brain/awq352
• Snape, K., Hanks, S., Ruark, E., Barros-Nunez, P., Elliott, A., Murray, A., Lane, A., Shannon, N., Callier, P., Chitayat, D., Clayton-Smith, J., FitzPatrick, D., Gisselsson, D., Jacquemont, S., Asakura-Hay, K., Micale, M., Tolmie, J., Turnpenny, P., Wright, M., Douglas, J. & Rahman, N (2011). Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. NATURE GENETICS, 43(6), 527-529. eScholarID:127567 | DOI:10.1038/ng.822
• Wright, E., Donnai, D., Johnson, D. & Clayton-Smith, J (2011). Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome. CLINICAL DYSMORPHOLOGY, 20(1), 15-20. eScholarID:127559 | DOI:10.1097/MCD.0b013e32833e8f1e
• Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C. & Black, G (2011). Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance. AMERICAN JOURNAL OF HUMAN GENETICS, 88(6), 767-777. eScholarID:127568 | DOI:10.1016/j.ajhg.2011.05.007

2010

• Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. (2010). . Aarskog Scott-Syndrome. Clinical Update and report of nine novel mutations of the FGD1 gene. American Journal of Medical Genetics Part A, 152(2), 313-318. eScholarID:78916
• Banka, S., Lloyd, I., Black, G., Trueman, S., Gibbs, J. & Clayton-Smith, J (2010). De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability. CLINICAL DYSMORPHOLOGY, 19(2), 73-75. eScholarID:127560 | DOI:10.1097/MCD.0b013e328331a6d7
• Banka, S., Lloyd, I., Black, G., Trueman, S., Gibbs, J. & Clayton-Smith, J (2010). De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability. Clin Dysmorphol, 19(2), 73-5. eScholarID:78918 | PMID:20177379 | DOI:10.1097/MCD.0b013e328331a6d7
• Bochukova, E., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O'Rahilly, S., Hurles, M. & Farooqi, I (2010). Large, rare chromosomal deletions associated with severe early-onset obesity. NATURE, 463(7281), 666-670. eScholarID:127580 | DOI:10.1038/nature08689
• Bochukova, E., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O'Rahilly, S., Hurles, M. & Farooqi, I (2010). Large, rare chromosomal deletions associated with severe early-onset obesity. Nature, 463(7281), 666-70. eScholarID:78920 | PMID:19966786 | DOI:10.1038/nature08689
• Bond, S (2010). Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. JOURNAL OF MIDWIFERY & WOMENS HEALTH, 55(4), 388-389. eScholarID:127558 | DOI:10.1016/j.jmwh.2010.03.013
• Clayton-Smith, J., Giblin, C., Smith, R., Dunn, C. & Willatt, L (2010). Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder. CLINICAL DYSMORPHOLOGY, 19(3), 128-132. eScholarID:127563 | DOI:10.1097/MCD.0b013e32833a1e3c
• Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nurnberg, G., Cenani, A., Urquhart, J., Chung, B., Ismail, S., Amr, K., Aslanger, A., Becker, C., Netzer, C., Scambler, P., Eyaid, W., Hamamy, H., Clayton-Smith, J., Hennekam, R., Nurnberg, P., Herz, J., Temtamy, S. & Wollnik, B (2010). LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 86(5), 696-706. eScholarID:127579 | DOI:10.1016/j.ajhg.2010.03.004
• Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nürnberg, G., Cenani, A., Urquhart, J., Chung, B., Ismail, S., Amr, K., Aslanger, A., Becker, C., Netzer, C., Scambler, P., Eyaid, W., Hamamy, H., Clayton-Smith, J., Hennekam, R., Nürnberg, P., Herz, J., Temtamy, S. & Wollnik, B (2010). LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome. Am J Hum Genet, eScholarID:78917 | PMID:20381006 | DOI:10.1016/j.ajhg.2010.03.004
• Mawer, G., Briggs, M., Baker, G., Bromley, R., Coyle, H., Eatock, J., Kerr, L., Kini, U., Kuzmyshcheva, L., Lucas, S., Wyatt, L., Clayton-Smith, J. & Liverpool & Manchester Neurodev, G (2010). Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 19(2), 112-119. eScholarID:127578 | DOI:10.1016/j.seizure.2009.11.008
• Mawer, G., Briggs, M., Baker, G., Bromley, R., Coyle, H., Eatock, J., Kerr, L., Kini, U., Kuzmyshcheva, L., Lucas, S., Wyatt, L., Clayton-Smith, J. & . (2010). Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study. Seizure, 19(2), 112-9. eScholarID:78919 | PMID:20036166 | DOI:10.1016/j.seizure.2009.11.008
• Meador, K., Baker, G., Browning, N., Clayton-Smith, J., Combs-Cantrell, D., Cohen, M., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & Study Grp, N (2010). Effects of breastfeeding in children of women taking antiepileptic drugs. NEUROLOGY, 75(22), 1954-1960. eScholarID:127562 | DOI:10.1212/WNL.0b013e3181ffe4a9
• O'Driscoll, M., Black, G., Clayton-Smith, J., Sherr, E. & Dobyns, W (2010). Identification of Genomic Loci Contributing to Agenesis of the Corpus Callosum. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(9), 2145-2159. eScholarID:127577 | DOI:10.1002/ajmg.a.33558
• Orrico, A., Galli, L., Faivre, L., Clayton-Smith, J., Azzarello-Burri, S., Hertz, J., Jacquemont, S., Taurisano, R., Carrera, I., Tarantino, E., Devriendt, K., Melis, D., Thelle, T., Meinhardt, U. & Sorrentino, V (2010). Aarskog-Scott Syndrome: Clinical Update and Report of Nine Novel Mutations of the FGD1 Gene. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(2), 313-318. eScholarID:127552 | DOI:10.1002/ajmg.a.33199
• Ramsden, S., Clayton-Smith, J., Birch, R. & Buiting, K (2010). Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC MEDICAL GENETICS, 11, eScholarID:127569 | DOI:10.1186/1471-2350-11-70
• Wright, E., Perveen, R., Bowers, N., Ramsden, S., McCann, E., O'Driscoll, M., Lloyd, I., Clayton-Smith, J. & Black, G (2010). VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype. BRITISH JOURNAL OF OPHTHALMOLOGY, 94(3), 386-388. eScholarID:127572 | DOI:10.1136/bjo.2009.159996

2009

• Urquhart JE, Black GCM, Clayton-Smith J. (2009). 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet, eScholarID:1d20648 | DOI:10.1016/j.ejmg.2009.06.003
• Clayton-Smith, J, Walters, S, Hobson, E, Burkitt-Wright, E, Smith, R, Toutain, A, Amiel, J, Lyonnet, S, Mansour, S, Fitzpatrick, D, Ciccone, R, Ricca, I, Zuffardi, O, Donnai, D. (2009). Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet, 17( 4), eScholarID:1d21316 | DOI:10.1038/ejhg.2008.192
• Balikova, I., Lehesjoki, A., de Ravel, T., Thienpont, B., Chandler, K., Clayton-Smith, J., Träskelin, A., Fryns, J. & Vermeesch, J (2009). Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat, 30(9), E845-54. eScholarID:78923 | PMID:19533689 | DOI:10.1002/humu.21065
• Balikova, I., Lehesjoki, A., de Ravel, T., Thienpont, B., Chandler, K., Clayton-Smith, J., Traskelin, A., Fryns, J. & Vermeesch, J (2009). Deletions in the VPS13B(COH1) Gene as a Cause of Cohen Syndrome. HUMAN MUTATION, 30(9), E845-E854. eScholarID:127561 | DOI:10.1002/humu.21065
• Banka, S., Metcalfe, K. & Clayton-Smith, J (2009). Trisomy 18 mosaicism: 2 more cases and important learning points. JOURNAL OF MEDICAL GENETICS, 46, S38-S38. eScholarID:127571
• Bromley, R., Shallcross, R., Gummery, A., Mawer, G., Clayton-Smith, J. & Baker, G (2009). BEHAVIORAL ABILITIES OF CHILDREN EXPOSED TO CARBAMAZEPINE OR SODIUM VALPROATE IN UTERO: PRELIMINARY PROSPECTIVE EVIDENCE FROM THE LIVERPOOL AND MANCHESTER NEURO-DEVELOPMENT GROUP. EPILEPSIA, 50, 140-140. eScholarID:127557
• Clayton-Smith, J., Walters, S., Hobson, E., Burkitt-Wright, E., Smith, R., Toutain, A., Amiel, J., Lyonnet, S., Mansour, S., Fitzpatrick, D., Ciccone, R., Ricca, I., Zuffardi, O. & Donnai, D (2009). Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. EUROPEAN JOURNAL OF HUMAN GENETICS, 17(4), 434-443. eScholarID:127573 | DOI:10.1038/ejhg.2008.192
• Cole, R., Van Ross, E. & Clayton-Smith, J (2009). Fibular aplasia in a child exposed to sodium valproate in pregnancy. CLINICAL DYSMORPHOLOGY, 18(1), 37-39. eScholarID:127576 | DOI:10.1097/MCD.0b013e3283155170
• Cole, R., Van Ross, E. & Clayton-Smith, J (2009). Fibular aplasia in a child exposed to sodium valproate in pregnancy. Clin Dysmorphol, 18(1), 37-9. eScholarID:78927 | PMID:19050403 | DOI:10.1097/MCD.0b013e3283155170
• Giorda, R., Bonaglia, M., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S., Vitello, G., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P., Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B. & Zuffardi, O (2009). Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females. AMERICAN JOURNAL OF HUMAN GENETICS, 85(3), 394-400. eScholarID:127574 | DOI:10.1016/j.ajhg.2009.08.001
• Giorda, R., Bonaglia, M., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S., Vitello, G., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P., Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B. & Zuffardi, O (2009). Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet, 85(3), 394-400. eScholarID:78921 | PMID:19716111 | DOI:10.1016/j.ajhg.2009.08.001
• Lacbawan, et al (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. JOURNAL OF MEDICAL GENETICS, 46(6), 389-398. eScholarID:127556 | DOI:10.1136/jmg.2008.063818
• Lacbawan, et al (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet, 46(6), 389-98. eScholarID:78926 | PMID:19346217 | DOI:10.1136/jmg.2008.063818
• Meador, K., Baker, G., Browning, N., Clayton-Smith, J., Combs-Cantrell, D., Cohen, M., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & Study Grp, N (2009). Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs. NEW ENGLAND JOURNAL OF MEDICINE, 360(16), 1597-1605. eScholarID:127555 | DOI:10.1056/NEJMoa0803531
• Meador, K., Cohen, M., Browning, N., Baker, G., Clayton-Smith, J., Pennell, P., Kalayjian, L., Liporace, J., Privitera, M., Kanner, A., Combs-Cantrell, D. & Loring, D (2009). Effects of fetal antiepileptic drug exposure on verbal vs. nonverbal cognitive outcomes at age 3 years. JOURNAL OF THE NEUROLOGICAL SCIENCES, 285, S103-S103. eScholarID:127565 | DOI:10.1016/S0022-510X(09)70419-8
• Meador, K., Penovich, P., Baker, G., Pennell, P., Bromfield, E., Pack, A., Liporace, J., Sam, M., Kalayjian, L., Thurman, D., Moore, E. & Loring, D (2009). Antiepileptic drug use in women of childbearing age. Epilepsy Behav, 15(3), 339-43. eScholarID:78924 | PMID:19410654 | DOI:10.1016/j.yebeh.2009.04.026
• Meador, K., Baker, G., Browning, N., Clayton-Smith, J., Combs-Cantrell, D., Cohen, M., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & . (2009). Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. N Engl J Med, 360(16), 1597-605. eScholarID:78925 | PMID:19369666 | DOI:10.1056/NEJMoa0803531
• Urquhart, J., Black, G. & Clayton-Smith, J (2009). 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. EUROPEAN JOURNAL OF MEDICAL GENETICS, 52(6), 454-457. eScholarID:127553 | DOI:10.1016/j.ejmg.2009.06.003
• Vinten, J., Bromley, R., Taylor, J., Adab, N., Kini, U. & Baker, G (2009). The behavioral consequences of exposure to antiepileptic drugs in utero. Epilepsy Behav, 14(1), 197-201. eScholarID:78932 | PMID:18992367 | DOI:10.1016/j.yebeh.2008.10.011

2008

• Donnai D, Clayton-Smith J, Baraitser M. (2008). Complementation in a 45,X/47,XX,+14 patient? Clin Dysmorphol, 17( 4), eScholarID:17d993 | DOI:10.1097/MCD.0b013e328317a3a7
• Fantes, J, Boland, E, Ramsay, J, Donnai, D, Splitt, M, Goodship, J, Stewart, H, Whiteford, M, Gautier, P, Harewood, L, Holloway, S, Sharkey, F, Maher, E, van Heyningen, V, Clayton-Smith, J, Fitzpatrick, D, Black, GCM. (2008). FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet, 82( 4), eScholarID:1d20655 | DOI:10.1016/j.ajhg.2008.02.007
• Newman, WG, Clayton-Smith, J, Metcalfe, K, Cole, R, Tartaglia, M, Brancati, F, Morara, S, Novelli, A, Liu, X, Siminovitch, K, Mundlos, S, Tassabehji, M, Black, GCM. (2008). Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am J Med Genet A, 146A( 23), eScholarID:1d18712 | DOI:10.1002/ajmg.a.32564
• Hennies, H, Kornak, U, Zhang, H, Egerer, J, Zhang, X, Seifert, W, Kühnisch, J, Budde, B, Nätebus, M, Brancati, F, Wilcox, W, Müller, D, Kaplan, P, Rajab, A, Zampino, G, Fodale, V, Dallapiccola, B, Newman, WG, Metcalfe, K, Clayton-Smith, J, Tassabehji, M, Steinmann, B, Barr, F, Nürnberg, P, Wieacker, P, Mundlos, S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet, 40( 12), eScholarID:1d32316 | DOI:10.1038/ng.252
• Beysen, D., De Jaegere, S., Amor, D., Bouchard, P., Christin-Maitre, S., Fellous, M., Touraine, P., Grix, A., Hennekam, R., Meire, F., Oyen, N., Wilson, L., Barel, D., Clayton-Smith, J., de Ravel, T., Decock, C., Delbeke, P., Ensenauer, R., Ebinger, F., Gillessen-Kaesbach, G., Hendriks, Y., Kimonis, V., Laframboise, R., Laissue, P., Leppig, K., Leroy, B., Miller, D., Mowat, D., Neumann, L., Plomp, A., Van Regemorter, N., Wieczorek, D., Veitia, R., De Paepe, A. & De Baere, E (2008). Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat, 29(11), E205-19. eScholarID:78934 | PMID:18642388 | DOI:10.1002/humu.20819
• Bromley, R., Mawer, G., Clayton-Smith, J. & Baker, G (2008). Autism spectrum disorders following in utero exposure to antiepileptic drugs. Neurology, 71(23), 1923-4. eScholarID:78928 | PMID:19047565 | DOI:10.1212/01.wnl.0000339399.64213.1a
• Bromley, R., Mawer, G., Clayton-Smith, J., Baker, G. & Manchester Neurodev, L (2008). AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS. NEUROLOGY, 71(23), 1923-1924. eScholarID:127554 | DOI:10.1212/01.wnl.0000339399.64213.1a
• Fantes, J., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D. & Black, G (2008). FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet, 82(4), 916-26. eScholarID:78939 | PMID:18374296 | DOI:10.1016/j.ajhg.2008.02.007
• Guerrini, M., Sobacchi, C., Cassani, B., Abinun, M., Kilic, S., Pangrazio, A., Moratto, D., Mazzolari, E., Clayton-Smith, J., Orchard, P., Coxon, F., Helfrich, M., Crockett, J., Mellis, D., Vellodi, A., Tezcan, I., Notarangelo, L., Rogers, M., Vezzoni, P., Villa, A. & Frattini, A (2008). Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet, 83(1), 64-76. eScholarID:78937 | PMID:18606301 | DOI:10.1016/j.ajhg.2008.06.015
• Hennies, H., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, J., Budde, B., Nätebus, M., Brancati, F., Wilcox, W., Müller, D., Kaplan, P., Rajab, A., Zampino, G., Fodale, V., Dallapiccola, B., Newman, W., Metcalfe, K., Clayton-Smith, J., Tassabehji, M., Steinmann, B., Barr, F., Nürnberg, P., Wieacker, P. & Mundlos, S (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet, 40(12), 1410-2. eScholarID:78931 | PMID:18997784 | DOI:10.1038/ng.252
• Little, J., Gilmour, M., Mossey, P., Fitzpatrick, D., Cardy, A., Clayton-Smith, J. & Fryer, A (2008). Folate and clefts of the lip and palate--a U.K.-based case-control study: Part I: Dietary and supplemental folate. Cleft Palate Craniofac J, 45(4), 420-7. eScholarID:78936 | PMID:18616361 | DOI:10.1597/06-150.1
• Little, J., Gilmour, M., Mossey, P., Fitzpatrick, D., Cardy, A., Clayton-Smith, J., Hill, A., Duthie, S., Fryer, A., Molloy, A. & Scott, J (2008). Folate and clefts of the lip and palate--a U.K.-based case-control study: Part II: Biochemical and genetic analysis. Cleft Palate Craniofac J, 45(4), 428-38. eScholarID:78935 | PMID:18616362 | DOI:10.1597/06-151.1
• Newman, W., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., Morara, S., Novelli, A., Liu, X., Siminovitch, K., Mundlos, S., Tassabehji, M. & Black, G (2008). Geroderma Osteodysplastica Maps to a 4 Mb Locus on Chromosome 1q24. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(23), 3034-3037. eScholarID:127575 | DOI:10.1002/ajmg.a.32564
• Newman, W., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., Morara, S., Novelli, A., Liu, X., Siminovitch, K., Mundlos, S., Tassabehji, M. & Black, G (2008). Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am J Med Genet A, 146A(23), 3034-7. eScholarID:78930 | PMID:19006212 | DOI:10.1002/ajmg.a.32564
• O'Driscoll, M. & Clayton-Smith, J (2008). Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder? Clin Dysmorphol, 17(3), 157-9. eScholarID:78938 | PMID:18541959 | DOI:10.1097/MCD.0b013e3283023d0c

2007

• Cilliers DD, Parveen R, Clayton PE, Cairns S, Clarke S, Shalet SM, Black GCM, Newman WG, Clayton-Smith J. (2007). A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. European Journal of Medical Genetics, eScholarID:1d15560
• Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, Davies LM, Clayton-Smith J. (2007). Array comparative genomic hybridization for diagnosis of developmental delay - an exploratory cost-consequences analysis. Clinical Genetics, eScholarID:1d15529
• Boland, E., Clayton-Smith, J., Woo, V., McKee, S., Manson, F., Medne, L., Zackai, E., Swanson, E., Fitzpatrick, D., Millen, K., Sherr, E., Dobyns, W. & Black, G (2007). Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet, 81(2), 292-303. eScholarID:78941 | PMID:17668379 | DOI:10.1086/519999
• Cilliers, D., Alanay, Y., Boduroglu, K., Utine, E., Tunçbilek, E. & Clayton-Smith, J (2007). Cerebro-facio-thoracic dysplasia: expanding the phenotype. Clin Dysmorphol, 16(2), 121-5. eScholarID:78945 | PMID:17351359 | DOI:10.1097/MCD.0b013e328012e292
• Newman, W., Hamilton, S., Ayres, J., Sanghera, N., Smith, A., Gaunt, L., Davies, L. & Clayton-Smith, J (2007). Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis. Clin Genet, 71(3), 254-9. eScholarID:78947 | PMID:17309648 | DOI:10.1111/j.1399-0004.2007.00756.x
• Smith, A., Mehta, S., Bullen, P. & Clayton-Smith, J (2007). Osteocraniostenosis: a further case report documenting the antenatal findings. Clin Dysmorphol, 16(2), 117-20. eScholarID:78946 | PMID:17351358 | DOI:10.1097/01.mcd.0000220619.78273.a5
• Tarpey, et al (2007). Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet, 80(2), 345-52. eScholarID:78948 | PMID:17236139 | DOI:10.1086/511134
• Vermeesch, J., Fiegler, H., de Leeuw, N., Szuhai, K., Schoumans, J., Ciccone, R., Speleman, F., Rauch, A., Clayton-Smith, J., Van Ravenswaaij, C., Sanlaville, D., Patsalis, P., Firth, H., Devriendt, K. & Zuffardi, O (2007). Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet, 15(11), 1105-14. eScholarID:78942 | PMID:17637806 | DOI:10.1038/sj.ejhg.5201896
• Zweier, C., Peippo, M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., Saraiva, J., Cabral, A., Gohring, I., Devriendt, K., de Ravel, T., Bijlsma, E., Hennekam, R., Orrico, A., Cohen, M., Dreweke, A., Reis, A., Nurnberg, P. & Rauch, A (2007). Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet, 80(5), 994-1001. eScholarID:78943 | PMID:17436255 | DOI:10.1086/515583

2006

• Kini U, Adab N, Vinten J, Fryer A, Clayton-Smith J. (2006). Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes. Arch Dis Child, 91, F90-95. eScholarID:1d13096 | DOI:10.1136/adc.2004.067421
• Kini, U., Adab, N., Vinten, J., Fryer, A. & Clayton-Smith, J (2006). Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes. Arch Dis Child Fetal Neonatal Ed, 91(2), F90-5. eScholarID:78957 | PMID:16239295 | DOI:10.1136/adc.2004.067421
• Mackay, D., Boonen, S., Clayton-Smith, J., Goodship, J., Hahnemann, J., Kant, S., Njølstad, P., Robin, N., Robinson, D., Siebert, R., Shield, J., White, H. & Temple, I (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet, 120(2), 262-9. eScholarID:78950 | PMID:16816970 | DOI:10.1007/s00439-006-0205-2
• Mackay, D., Hahnemann, J., Boonen, S., Poerksen, S., Bunyan, D., White, H., Durston, V., Thomas, N., Robinson, D., Shield, J., Clayton-Smith, J. & Temple, I (2006). Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet, 119(1-2), 179-84. eScholarID:78953 | PMID:16402210 | DOI:10.1007/s00439-005-0127-4
• Sutcliffe, A., Peters, C., Bowdin, S., Temple, K., Reardon, W., Wilson, L., Clayton-Smith, J., Brueton, L., Bannister, W. & Maher, E (2006). Assisted reproductive therapies and imprinting disorders--a preliminary British survey. Hum Reprod, 21(4), 1009-11. eScholarID:78955 | PMID:16361294 | DOI:10.1093/humrep/dei405
• Williams, C., Beaudet, A., Clayton-Smith, J., Knoll, J., Kyllerman, M., Laan, L., Magenis, R., Moncla, A., Schinzel, A., Summers, J. & Wagstaff, J (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A, 140(5), 413-8. eScholarID:78952 | PMID:16470747 | DOI:10.1002/ajmg.a.31074

2005

• Meyer, S, Fergusson, W, Oostra AB , Medhurst AL, Waisfisz Q, de Winter JP, Chen F, Carr TF, Clayton-Smith, J, Clancy, T, Green M, Barber, L, Eden, OB, Will AM, Joenje H, Taylor, GM. (2005). A cross- linker sensitive myeloid leukaemia cell line from a 2-year-old boy with severe Fanconi Anaemia and bi-allelic FANCD1/BRCA2 mutations. Genes Chromosomes and Cancer, 42(4), eScholarID:1d10144 | DOI:10.1002/gcc.20153
• Meyer, S, Fergusson, W, Oostra, A, Medhurst, A, Waisfisz, Q, de Winter, J, Chen, F, Carr, T, Clayton-Smith, J, Clancy, T, Green, M, Barber, L, Eden, O, Will, A, Joenje, H, Taylor, G. (2005). A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations. Genes Chromosomes Cancer, 42( 4), eScholarID:1d30840
• Beysen D, Raes J, Leroy JP, Lucassen A, Yates JR, Clayton-Smith, J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Peer YV, Veitia RA, De Paepe A, De Baere E. (2005). Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet, 77, 205-218. eScholarID:1d13097 | DOI:10.1086/432083
• Hammond, P, Hutton, T, Allanson, J, Buxton, B, Campbell, L, Clayton-Smith, J, Donnai, D, Karmiloff-Smith, A, Metcalfe, K, Murphy, K, Patton, M, Pober, B, Prescott, K, Scambler, P, Shaw, A, Smith, A, Stevens, A, Temple, I, Hennekam, R, Tassabehji, M. (2005). Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet, 77(6), 999-1010. eScholarID:1d13985
• Peter Hammond, Tim J. Hutton, Judith E. Allanson, Bernard Buxton, Linda E. Campbell, Clayton-Smith, J, Donnai, D, Annette Karmiloff-Smith, Metcalfe, K, Kieran C. Murphy, Michael Patton, Barbara Pober,, Katrina Prescott, Pete Scambler, Adam Shaw, Ann C. M. Smith, Angela F. Stevens, I. Karen Temple, Raoul Hennekam, Tassabehji, M. (2005). Discriminating power of localized three-dimensional facial morphology. American Journal of Human Geneics, 77 (6), eScholarID:1d11204 | DOI:10.1086/498396
• Ciprero K, Clayton-Smith J, Donnai D, Zimmerman R, Zackai E, Ming J. (2005). Symptomatic Chiari I malformation in Kabuki syndrome. Am J Med Genet A, 132( 3), eScholarID:1d29232
• Beysen, D., Raes, J., Leroy, B., Lucassen, A., Yates, J., Clayton-Smith, J., Ilyina, H., Brooks, S., Christin-Maitre, S., Fellous, M., Fryns, J., Kim, J., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L., Oley, C., Splitt, M., Thomson, J., Van de Peer, Y., Veitia, R., De Paepe, A. & De Baere, E (2005). Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet, 77(2), 205-18. eScholarID:78959 | PMID:15962237 | DOI:10.1086/432083
• Hammond, P., Hutton, T., Allanson, J., Buxton, B., Campbell, L., Clayton-Smith, J., Donnai, D., Karmiloff-Smith, A., Metcalfe, K., Murphy, K., Patton, M., Pober, B., Prescott, K., Scambler, P., Shaw, A., Smith, A., Stevens, A., Temple, I., Hennekam, R. & Tassabehji, M (2005). Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet, 77(6), 999-1010. eScholarID:78954 | PMID:16380911 | DOI:10.1086/498396

2004

• Adab, N, Kini, U, Vinten, J, Ayres, J, Baker, G, Clayton-Smith, J, Coyle, H, Fryer, A, Gorry, J, Gregg, J, Mawer, G, Nicolaides, P, Pickering, L, Tunnicliffe, L, Chadwick, D. (2004). The longer term outcome of children born to mothers with epilepsy. J Neurol Neurosurg Psychiatry, 75( 11), 1575-83. eScholarID:1d10807
• Adab N, Kini U, Vinten J, Ayres J, Baker G, , Clayton-Smith, J, Coyle H, Fryer A, , Gorry J, Gregg J, Mawer G, Nicolaides P, Pickering L, Tunnicliffe L, Chadwick DW. (2004). The longer term outcome of children born to mothers with epilepsy. J Neurol Neurosurg Psychiatry, 75, eScholarID:1d9658

2003

• Clayton-Smith J, Laan LAEM. (2003). Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet, 40, 87-92. eScholarID:1d9657
• Kolehmainen, J, Black, GCM, Saarinen, A, Chandler, K, Clayton-Smith, J, Träskelin, A, Perveen, R, Kivitie-Kallio, S, Norio, R, Warburg, M, Fryns, J, de la Chapelle, A, Lehesjoki, A. (2003). Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet, 72( 6), eScholarID:1d30014
• Chandler K, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki A, Black GCM, Clayton-Smith J. (2003). Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet, 40( 4), eScholarID:1d30439
• Wilson, M, Mowat, D, Dastot-Le Moal, F, Cacheux, V, Kääriäinen, H, Cass, D, Donnai, D, Clayton-Smith, J, Townshend, S, Curry, C, Gattas, M, Braddock, S, Kerr, B, Aftimos, S, Zehnwirth, H, Barrey, C, Goossens, M. (2003). Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet A, 119( 3), eScholarID:1d30319
• Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kaariainen H, Cass D, Donnai, D, Clayton-Smith, J, Townshend S, Curry C, Gatta M, Braddock S, Kerr, B, Aftimos S, Zehnwirth H, Barrey C, Goossens. (2003). Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet, 119A(3), eScholarID:1d6280
• Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Bacino C, Becker K, Clayton-Smith, J, Giovannucci-Uzielli M, Goh D, Grange D, Krajewska-Walasek M , Lacombe D , Morris C , Odent S, Savairayan R, Stratton R, Superti-Furga A , Verloes A , Vigneron J , Wilcox W , Winter R, Young K , Wilkie AO. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33, 487-491. eScholarID:1d9659

2002

• Lower, K, Turner, G, Kerr, B, Mathews, K, Shaw, M, Gedeon, A, Schelley, S, Hoyme, H, White, S, Delatycki, M, Lampe, A, Clayton-Smith, J, Stewart, H, van Ravenswaay, C, de Vries, B, Cox, B, Grompe, M, Ross, S, Thomas, P, Mulley, J, Gécz, J. (2002). Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet, 32(4), 661-665. eScholarID:1d30347
• Lower KM, Turner G, Kerr, B, Mathews K, Shaw M, Gedeon A, Schelley S, Hoyme E, White SM, Delatycki MB, Lampe A, Clayton-Smith, J, Stewart H, van Ravensway C, de Vries B, Cox B, Grompe M, Ross S, Thomas P , Mulley JC, Gecz J. (2002). Mutations in PHF6 are associated with theBorjeson-Forssman-Lehman syndrome. Nature Genetics, 32, 661-665. eScholarID:1d5281
• Chandler K, Biswas S, Lloyd I, Parry N, Clayton-Smith J, Black GCM. (2002). The ophthalmic findings in Cohen syndrome. Br J Ophthalmol, 86( 12), eScholarID:1d30448

2001

• Elanko N, Sibbring JS, Metcalfe K, Clayton-Smith J, Donnai D, Temple IK, Wall SA, Wilkie AOM. (2001). A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutation, 18, eScholarID:1d6279
• Elanko N, Sibbring J, Metcalfe K, Clayton-Smith J, Donnai D, Temple I, Wall S, Wilkie A. (2001). A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat, 18( 6), eScholarID:1d30431
• Watson P, Black GCM, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. (2001). Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet, 38( 4), eScholarID:1d30445
• Watson P, Black GCM, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. (2001). Angelman syndrome phenotype associated with mutations in MECP2. Journal of Medical Genetics, 38, eScholarID:1d4011

2000

• McGaughran JM, Donnai D, Clayton-Smith J. (2000). Biliary atresia in Kabuki syndrome. American Journal of Medical Genetics, 91, eScholarID:1d4487
• Perveen, R, Lloyd, I, Clayton-Smith, J, Churchill, A, van Heyningen, V, Hanson, I, Taylor, D, McKeown, C, Super, M, Kerr, B, Winter, R, Black, GCM. (2000). Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci, 41( 9), eScholarID:1d31683
• Perveen, R, Lloyd IC , Clayton-Smith, J, Churchill A, Van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr, B, Winter R, Black, GCM. (2000). Phentotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Investigative Ophthalmology and Vision Sciences, 41, eScholarID:1d4495
• Clayton-Smith J, Watson P, Ramsden S, Black GCM. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet, 356( 9232), eScholarID:1d31684
• Clayton-Smith J, Watson P, Ramsden S, Black GCM. (2000). Somatic mutation in the MECP2 gene may be a cause of non-lethal neurodevelopmental diosrder in males. Lancet, 356(9232), eScholarID:1d4012

1999

• Black GCM, Perveen R, Bonshek RR, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D-. (1999). Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Human Molecular Genetics, 8, eScholarID:1d3336

1998

• Black GCM, Perveen R, E Hatchwell, A Reck, Clayton-Smith J. (1998). Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). Journal Of Medical Genetics, 35, eScholarID:1d4418