Jill Clayton-Smith

Jill Clayton-Smith

UNVERIFIED PROFILE

Are you Jill Clayton-Smith?   Register this Author

Register author
Jill Clayton-Smith

Jill Clayton-Smith

Publications by authors named "Jill Clayton-Smith"

Are you Jill Clayton-Smith?   Register this Author

100Publications

4192Reads

27Profile Views

Clinical and genetic variability in children with partial albinism.

Sci Rep 2019 Nov 12;9(1):16576. Epub 2019 Nov 12.

Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-51768-8DOI Listing
November 2019

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

Clin Dysmorphol 2019 Oct;28(4):184-189

Department of Paediatric Ophthalmology, Manchester Royal Eye Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000287DOI Listing
October 2019

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.

J Neurodev Disord 2019 Oct 5;11(1):24. Epub 2019 Oct 5.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s11689-019-9282-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778364PMC
October 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Eur J Hum Genet 2019 Sep 24;27(9):1326-1340. Epub 2019 Jun 24.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0435-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777528PMC
September 2019

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Arch Dis Child 2019 Sep 3. Epub 2019 Sep 3.

Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2018-316547DOI Listing
September 2019

Delivering effective genetic services for patients and families affected by cleft lip and/or palate.

Eur J Hum Genet 2019 Jul 25;27(7):1018-1025. Epub 2019 Jan 25.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0333-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777632PMC
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.

Eur J Med Genet 2019 Jun 11;62(6):103536. Epub 2018 Sep 11.

Manchester Centre for Genomic Medicine, Evolution and Genomic Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183039
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.09.003DOI Listing
June 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0330-z
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Am J Med Genet A 2019 Jun 20;179(6):1058-1062. Epub 2019 Mar 20.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61131DOI Listing
June 2019

Intellectual functioning in clinically confirmed fetal valproate syndrome.

Neurotoxicol Teratol 2019 Jan - Feb;71:16-21. Epub 2018 Nov 16.

School of Life and Health Sciences, Aston University, Aston Triangle, Birmingham B4 7ET, UK; Clinical Sciences, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ntt.2018.11.003DOI Listing
November 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.

Cleft Palate Craniofac J 2018 03 14;55(3):456-461. Epub 2017 Dec 14.

1 University of Manchester, Faculty of Biology, Medicine and Health, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665617739312DOI Listing
March 2018

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

J Med Genet 2018 02 16;55(2):89-96. Epub 2017 Sep 16.

Manchester Centre for Genomic Medicine, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-104892
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2017-104892DOI Listing
February 2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Am J Hum Genet 2018 01 21;102(1):175-187. Epub 2017 Dec 21.

Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778085PMC
January 2018

Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.

Eur J Med Genet 2017 Oct 12;60(10):527-532. Epub 2017 Jul 12.

Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, M13 9PL, United Kingdom.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212173026
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2017.07.009DOI Listing
October 2017

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

J Pediatr Genet 2017 Sep 12;6(3):129-141. Epub 2017 Apr 12.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1601335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548525PMC
September 2017

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Ophthalmology 2017 07 22;124(7):985-991. Epub 2017 Mar 22.

Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2017.02.005DOI Listing
July 2017

Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.

J Child Neurol 2017 05 16;32(6):560-565. Epub 2017 Mar 16.

3 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073817696816DOI Listing
May 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

Clin Dysmorphol 2017 Apr;26(2):78-82

aManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre bDepartment of Burns and Plastic Surgery, Royal Manchester Children's Hospital, Central Manchester NHS Foundation Trust cDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester dDepartment of Paediatrics, Royal Preston Hospital, East Lancashire Teaching Hospitals Trust, Preston, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000172DOI Listing
April 2017

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI Listing
April 2017

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

Am J Med Genet A 2017 Apr 3;173(4):1115-1118. Epub 2017 Mar 3.

Manchester Center for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK Manchester Academic Health Sciences Center, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38131DOI Listing
April 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Invest Ophthalmol Vis Sci 2017 01;58(1):594-603

Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, The University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom 3Manchester Centre for Genomic Medicine, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
Publisher Site
http://dx.doi.org/10.1167/iovs.16-21026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841568PMC
January 2017

Cognition in school-age children exposed to levetiracetam, topiramate, or sodium valproate.

Neurology 2016 Nov 31;87(18):1943-1953. Epub 2016 Aug 31.

From the Institute of Human Development (R.L.B. J.C.-S.), Department of Clinical Psychology (P.T.), and Centre for Women's Mental Health (R.S.), University of Manchester; Royal Manchester Children's Hospital (R.L.B.), Manchester; Department of Clinical Psychology (R.C.), University of Lancaster; Departments of Biostatistics (C.P.C., M.G.-F.) and Molecular and Clinical Pharmacology (G.A.B.), University of Liverpool; Neuropsychology Trauma Pathway (C.R.), Merseycare NHS Trust, Liverpool; Manchester Centre for Genomic Medicine (J.C.-S.), St Mary's Hospital, Manchester; and Department of Neurology (B.I., J.I.M.), Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/early/2016/08/31/WNL.000000
Web Search
http://dx.doi.org/10.1212/WNL.0000000000003157DOI Listing
November 2016

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Cochrane Database Syst Rev 2016 11 7;11:CD010224. Epub 2016 Nov 7.

Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Clinical Sciences Centre for Research and Education, Lower Lane, Fazakerley, Liverpool, Merseyside, UK, L9 7LJ.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/14651858.CD010224.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465055PMC
November 2016

Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.

Public Health Genomics 2016 9;19(1):19-24. Epub 2015 Oct 9.

Department of Economics, University of Piraeus, Piraeus, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000440710DOI Listing
August 2016

In utero exposure to valproate increases the risk of isolated cleft palate.

Arch Dis Child Fetal Neonatal Ed 2016 May 25;101(3):F207-11. Epub 2015 Sep 25.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2015-308278DOI Listing
May 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Am J Med Genet A 2016 May 20;170A(5):1216-24. Epub 2016 Jan 20.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37564DOI Listing
May 2016

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

Ophthalmology 2016 Jan 30;123(1):217-20. Epub 2015 Jul 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2015.06.035DOI Listing
January 2016

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

Clin Dysmorphol 2016 Jan;25(1):16-8

Manchester Centre for Genomic Medicine, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000099DOI Listing
January 2016

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

Am J Med Genet A 2015 Dec 3;167A(12):3006-10. Epub 2015 Sep 3.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37343DOI Listing
December 2015

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

J Hum Genet 2015 Dec 17;60(12):781-5. Epub 2015 Sep 17.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.111DOI Listing
December 2015

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Hum Mol Genet 2015 Oct 30;24(20):5789-804. Epub 2015 Jul 30.

Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv298DOI Listing
October 2015

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Rutherfurd syndrome revisited: intellectual disability is not a feature.

Clin Dysmorphol 2015 Jul;24(3):125-7

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000081DOI Listing
July 2015

Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

J Clin Endocrinol Metab 2015 May 17;100(5):E815-20. Epub 2015 Mar 17.

School of Molecular & Biomedical Science (B.H., J.H., P.T.), Robinson Research Institute (B.H., J.H., M.C., M.S., J.G., P.T.), School of Pediatrics and Reproductive Health (M.C., M.S., J.G.), The University of Adelaide, Adelaide, Australia 5005; Manchester Centre For Genomic Medicine (J.I., J.C.-S.), Central Manchester National Health Service Foundation Trust, University of Manchester, Manchester M13 9WL; and Department of Child Health (L.P.), Royal Manchester Children's Hospital, University of Manchester, Manchester M13 9WL.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-4383DOI Listing
May 2015

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Eur J Hum Genet 2015 Apr 17;23(4). Epub 2014 Sep 17.

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/ejhg.2014.178
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667502PMC
April 2015

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

J Hum Genet 2015 Apr 15;60(4):199-202. Epub 2015 Jan 15.

1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.122DOI Listing
April 2015

IQ at 6 years after in utero exposure to antiepileptic drugs: a controlled cohort study.

Neurology 2015 Jan 24;84(4):382-90. Epub 2014 Dec 24.

From the Departments of Molecular and Clinical Pharmacology (G.A.B.), Biostatistics (C.P.C., M.G.-F.), and Clinical Psychology (R.S.), Institute of Infection and Global Health (M.J.C., A.G.), and Alder Hey Children's Hospital & Institute of Infection & Global Health (R.K.), University of Liverpool; Institute of Human Development (R.L.B., J.C.-S.), University of Manchester; Manchester Academic Health Sciences Centre (R.L.B., M.B., G.M., J.C.-S.), Central Manchester University Hospitals Foundation Trust, UK; Department of Neurology (M.J.C.), Georgia Regents University, Augusta; Department of Neurology & Pediatrics (D.W.L.), Emory University, Atlanta, GA; and Department of Neurology & Neurological Sciences (K.J.M.), Stanford University, CA.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/84/4/382.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000118
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336006PMC
January 2015

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

Invest Ophthalmol Vis Sci 2015 Jan 8;56(2):883-91. Epub 2015 Jan 8.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://iovs.arvojournals.org/Article.aspx?doi=10.1167/iovs.1
Publisher Site
http://dx.doi.org/10.1167/iovs.14-15861DOI Listing
January 2015

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Ophthalmology 2014 Nov 19;121(11):2124-37.e1-2. Epub 2014 Aug 19.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2014.06.006DOI Listing
November 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Am J Hum Genet 2014 Nov 6;95(5):622-32. Epub 2014 Nov 6.

Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225581PMC
November 2014

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

J Med Genet 2014 Oct 12;51(10):635-45. Epub 2014 Aug 12.

Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102476DOI Listing
October 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

The ARID1B phenotype: what we have learned so far.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):276-89. Epub 2014 Aug 28.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31414DOI Listing
September 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology.

Clin Dysmorphol 2014 Apr;23(2):74-5

aMedical School, University of Manchester bManchester Centre for Genomic Medicine, Central Manchester University Hospitals, Manchester cMersey Regional Genetic Service, Royal Liverpool Children's Hospital, Liverpool dClinical Genetic Service, North West London Hospitals NHS Trust, Harrow, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959663PMC
April 2014

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features.

Arch Dis Child 2014 Jan 21;99(1):52-7. Epub 2013 Oct 21.

Department of Human Genetics, Radboud university medical center, Nijmegen , The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2013-304484DOI Listing
January 2014

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Orphanet J Rare Dis 2013 May 4;8:68. Epub 2013 May 4.

Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006PMC
May 2013

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.

Arch Dis Child 2012 Sep 14;97(9):812-7. Epub 2012 Jul 14.

Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary's Hospital, Oxford Rd, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2012-302125DOI Listing
September 2012

Another cause of vaccine encephalopathy: a case of Angelman syndrome.

Eur J Med Genet 2012 May 25;55(5):338-41. Epub 2012 Jan 25.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, Queen Square, London, UK.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212120001
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2012.01.008DOI Listing
May 2012