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1

Angelman syndrome 2005: Updated consensus for diagnostic criteria

Charles A. Williams, Arthur L. Beaudet, Jill Clayton-Smith, Joan H. Knoll, Martin Kyllerman, Laura A. Laan, R. Ellen Magenis, Ann Moncla, Albert A. Schinzel, Jane A. Summers, Joseph Wagstaff

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 90 KB

english, 2006

2

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

A. Orrico, L. Galli, L. Faivre, J. Clayton-Smith, S.M. Azzarello-Burri, J.M. Hertz, S. Jacquemont, R. Taurisano, I. Arroyo Carrera, E. Tarantino, K. Devriendt, D. Melis, T. Thelle, U. Meinhardt, V. So

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

3

Reconstruction techniques and clinical results of patellar tendon ruptures: Evidence today

Gilmore, Jack H., Clayton-Smith, Zoë J., Aguilar, Marc, Pneumaticos, Spiros G., Giannoudis, Peter V.

Journal:

Year:

2015

Language:

english

File:

PDF, 464 KB

english, 2015

4

A Comparison of the Efficacy and Adverse Effects of Double-Lumen Endobronchial Tubes and Bronchial Blockers in Thoracic Surgery: A Systematic Review and Meta-analysis of Randomized Controlled Trials

Clayton-Smith, Ana, Bennett, Kyle, Alston, Robin Peter, Adams, George, Brown, Greg, Hawthorne, Timothy, Hu, May, Sinclair, Angus, Tan, Jay

Journal:

Journal of Cardiothoracic and Vascular Anesthesia

Year:

2014

Language:

english

File:

PDF, 1.70 MB

english, 2014

5

Angelman syndrome: Consensus for diagnostic criteria

Dr. Charles A. Williams, Harry Angelman, Jill Clayton-Smith, Daniel J. Driscoll, Jill E. Hendrickson, Joan H. M. Knoll, R. Ellen Magenis, Albert Schinzel, Joseph Wagstaff, Elaine M. Whidden, Roberto T

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 210 KB

english, 1995

6

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

Siddharth Banka, Gregory J. Fitzgibbon, Lorraine Gaunt, Wendy J. Rankin, Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

7

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

I. Balikova, A-E. Lehesjoki, T.J.L. de Ravel, B. Thienpont, K.E. Chandler, J. Clayton-Smith, A-L. Träskelin, J-P. Fryns, J.R. Vermeesch

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

8

The key anatomical landmarks for retrograde identification and dissection of the facial nerve in parotid surgery

J. McCaul, Z. Clayton-Smith, P. McConnell, S. Sood

Journal:

British Journal of Oral and Maxillofacial Surgery

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

9

Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study

G. Mawer, M. Briggs, G.A. Baker, R. Bromley, H. Coyle, J. Eatock, L. Kerr, U. Kini, L. Kuzmyshcheva, S.B. Lucas, L. Wyatt, J. Clayton-Smith

Journal:

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

10

Large, rare chromosomal deletions associated with severe early-onset obesity

Bochukova, Elena G., Huang, Ni, Keogh, Julia, Henning, Elana, Purmann, Carolin, Blaszczyk, Kasia, Saeed, Sadia, Hamilton-Shield, Julian, Clayton-Smith, Jill, O’Rahilly, Stephen, Hurles, Matthew E., Fa

Journal:

Year:

2010

Language:

english

File:

PDF, 456 KB

english, 2010

11

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Krystyna Chrzanowska, Jill Clayton-Smith, Ruth Day…

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 181 KB

english, 2010

12

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.58 MB

english, 2008

13

Stem cell stroke trial brings hopes and challenges

Malcolm, S., Clayton-Smith, J., Nichols, M., Pembrey, M.E., Armour, J.A.L., Jeffreys, A.J., Robb, S., Webb, T.

Journal:

Year:

2009

Language:

english

File:

PDF, 95 KB

english, 2009

14

Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

Gillespie, Rachel L., O’Sullivan, James, Ashworth, Jane, Bhaskar, Sanjeev, Williams, Simon, Biswas, Susmito, Kehdi, Elias, Ramsden, Simon C., Clayton-Smith, Jill, Black, Graeme C., Lloyd, I. Christoph

Journal:

Year:

2014

Language:

english

File:

PDF, 1.03 MB

english, 2014

15

The ARID1B phenotype: What we have learned so far

Santen, Gijs W.E., Clayton-Smith, Jill

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.87 MB

english, 2014

16

AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS

Bromley, R. L., Mawer, G., Clayton-Smith, J., Baker, G. A.

Journal:

Year:

2008

Language:

english

File:

PDF, 95 KB

english, 2008

17

Effects of breastfeeding in children of women taking antiepileptic drugs

Meador, K. J., Baker, G. A., Browning, N., Clayton-Smith, J., Combs-Cantrell, D. T., Cohen, M., Kalayjian, L. A., Kanner, A., Liporace, J. D., Pennell, P. B., Privitera, M., Loring, D. W.

Journal:

Year:

2010

Language:

english

File:

PDF, 334 KB

english, 2010

18

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

Yilmaz, Rüstem, Beleza-Meireles, Ana, Price, Susan, Oliveira, Renata, Kubisch, Christian, Clayton-Smith, Jill, Szakszon, Katalin, Borck, Guntram

Journal:

American Journal of Medical Genetics Part A

Year:

2015

File:

PDF, 1.35 MB

2015

19

Fine-tuning risk assessment with antiepileptic drug use in pregnancy

Mawer, G., Bromley, R., Baker, G. A., Meador, K. J., Clayton-Smith, J.

Journal:

Year:

2015

Language:

english

File:

PDF, 174 KB

english, 2015

20

Response to ‘Data interpretation on the use of Double Lumen Tube (DLT) versus Bronchial Blocker (BB) for one-lung ventilation’

Clayton-Smith, Ana, Hawthorne, Timothy

Journal:

Journal of Cardiothoracic and Vascular Anesthesia

Year:

2015

Language:

english

File:

PDF, 472 KB

english, 2015

21

Spatial Variation of the Physical and Biomechanical Properties Within an Equestrian Arena Surface

Northrop, A.J., Hobbs, S.J., Holt, D., Clayton-Smith, E., Martin, J.H.

Journal:

Procedia Engineering

Year:

2016

Language:

english

File:

PDF, 258 KB

english, 2016

22

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Vasileiou, Georgia, Vergarajauregui, Silvia, Endele, Sabine, Popp, Bernt, Büttner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, T

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.05 MB

english, 2018

23

Fetal antiepileptic drug exposure and learning and memory functioning at 6 years of age: The NEAD prospective observational study

Cohen, Morris J., Meador, Kimford J., May, Ryan, Loblein, Hayley, Conrad, Thomas, Baker, Gus A., Bromley, Rebecca L., Clayton-Smith, Jill, Kalayjian, Laura A., Kanner, Andres, Liporace, Joyce D., Penn

Journal:

Epilepsy & Behavior

Year:

2019

Language:

english

File:

PDF, 803 KB

english, 2019

24

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Lehalle, DaphnÃ©, Vabres, Pierre, Sorlin, Arthur, Bierhals, Tatjana, Avila, Magali, Carmignac, Virginie, Chevarin, Martin, Torti, Erin, Abe, Yuichi, Bartolomaeus, Tobias, Clayton-Smith, Jill, CognÃ©,

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 819 KB

2020

25

Mowat-Wilson syndrome: growth charts

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocc

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 2.28 MB

2020

26

Familial patent ductus arteriosus: A further case of CHAR syndrome

Slavotinek, Anne, Clayton-Smith, Jill, Super, Maurice

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 631 KB

english, 1997

27

Biliary atresia in Kabuki syndrome

McGaughran, Julie M., Donnai, Dian, Clayton-Smith, Jill

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

28

Does a Jewish type of Cohen syndrome truly exist?

K.E. Chandler, Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

29

Jeune syndrome and cystinuria

Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 69 KB

english, 1991

30

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)

Andrew M Norman, Andrew P Read, Jill Clayton-Smith, Tony Andrews, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 258 KB

english, 1992

31

Monozygotic twinning and Wiedemann-Beckwith syndrome

Jill Clayton-Smith, Andrew P Read, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 399 KB

english, 1992

32

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial angelman syndrome

J Clayton-Smith, T Webb, S A Robb, I Dijkstra, P Willems, S Lam, X-J Cheng, M E Pembrey, Dr. S Malcolm

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 426 KB

english, 1992

33

Psychological profiles and behavioural characteristics in chromosomal syndromes. By Martine M.C. Borghgraef

Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 82 KB

english, 1992

34

Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals

Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 383 KB

english, 1993

35

Difference in methylation patterns within the D15S9 region of chromosome 15qll–13 in first cousins with Angelman syndrome and Prader–Willi syndrome

Dr. Jill Clayton-Smith, Daniel J. Driscoll, Michael F. Waters, Tessa Webb, Tony Andrews, Sue Malcolm, Marcus E. Pembrey, Robert D. Nicholls

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 378 KB

english, 1993

36

Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)

R. J. Gibbons, L. Brueton, V. J. Buckle, J. Burn, J. Clayton-Smith, B. C. C. Davison, R. J. M. Gardner, T. Homfray, L. Kearney, H. M. Kingston, R. Newbury-Ecob, M. E. P. Porteous, A. O. M. Wilkie, Dr.

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.13 MB

english, 1995

37

De novo deletion of chromosome 18q in a baby with Harlequin ichthyosis

H. Stewart, P.T. Smith, L. Gaunt, L. Moore, P. Tarpey, S. Andrew, I. Dady, R. Rifkin, J. Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 141 KB

english, 2001

38

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?

André Mégarbané, Joseph Haddad, Stanislass Lyonnet, Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 153 KB

english, 2003

39

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

Meredith Wilson, David Mowat, Florence Dastot-Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton-Smith, Sharron Townshend, Cynthia Curry, Michael Gattas, Stephen Braddoc

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 295 KB

english, 2003

40

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

David A. Stevenson, Theresa M. Anaya, Jill Clayton-Smith, Bryan D. Hall, Margot I. Van Allen, Roberto T. Zori, Elaine H. Zackai, Gary Frank, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

41

Symptomatic Chiari I malformation in Kabuki syndrome

Karen L. Ciprero, Jill Clayton-Smith, Dian Donnai, Robert A. Zimmerman, Elaine H. Zackai, Jeffrey E. Ming

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

42

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

William G. Newman, Jill Clayton-Smith, Kay Metcalfe, Rachel Cole, Marco Tartaglia, Francesco Brancati, Sara Morara, Antonio Novelli, Xiangdong Liu, Katherine A. Siminovitch, Stefan Mundlos, May Tassab

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 125 KB

english, 2008

43

Identification of genomic loci contributing to agenesis of the corpus callosum

Mary C. O'Driscoll, Graeme C. M. Black, Jill Clayton-Smith, Elliott H. Sherr, William B. Dobyns

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 314 KB

english, 2010

44

Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome

Daphne Lehalle, Charles Williams, Victoria Mok Siu, Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 309 KB

english, 2011

45

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

Alma Kuechler, Karen Buysse, Jill Clayton-Smith, Cédric Le Caignec, Albert David, Hartmut Engels, Jürgen Kohlhase, Francesca Mari, Geert Mortier, Alessandra Renieri, Dagmar Wieczorek

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.08 MB

english, 2011

46

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations

Stefan Meyer, William D. Fergusson, Anneke B. Oostra, Annette L. Medhurst, Quinten Waisfisz, Johan P. de Winter, Fei Chen, Trevor F. Carr, Jill Clayton-Smith, Tara Clancy, Mike Green, Lisa Barber, Osb

Journal:

Genes, Chromosomes and Cancer

Year:

2005

Language:

english

File:

PDF, 353 KB

english, 2005

47

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Navaratnam Elanko, Julie S. Sibbring, Kay A. Metcalfe, Jill Clayton-Smith, Dian Donnai, I. Karen Temple, Steven A. Wall, Andrew O.M. Wilkie

Journal:

Year:

2001

Language:

english

File:

PDF, 284 KB

english, 2001

48

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Simon C Ramsden, Jill Clayton-Smith, Rachael Birch, Karin Buiting

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 806 KB

english, 2010

49

Examination of fetuses after induced abortion for fetal abnormality—a follow-up study

A. Medeira, A. Norman, J. Haslam, J. Clayton-Smith, D. Donnai

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 287 KB

english, 1994

50

U. Eiholzer, D. L’Allemand, WB. Zipf (eds): Prader-Willi syndrome as a model for obesity

Jill Clayton-Smith

Journal:

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004

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