Publications by authors named "Louise C Wilson"

48Publications

Major skull manifestations of skeletal dysplasias - pictorial essay.

Authors:
Alistair D Calder Trevor Gaunt Melissa Hickson Kshitij Mankad Louise C Wilson

Pediatr Radiol 2020 Nov 2;50(12):1658-1668. Epub 2020 Nov 2.

Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/s00247-019-04473-7DOI Listing
November 2020

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Authors:
Eduardo Calpena Araceli Cuellar Krithi Bala Sigrid M A Swagemakers Nils Koelling Simon J McGowan Julie M Phipps Meena Balasubramanian Michael L Cunningham Sofia Douzgou Wanda Lattanzi Jenny E V Morton Deborah Shears Astrid Weber Louise C Wilson Helen Lord Tracy Lester David Johnson Steven A Wall Stephen R F Twigg Irene M J Mathijssen Freya Boardman-Pretty Simeon A Boyadjiev Andrew O M Wilkie

Genet Med 2020 Sep;22(9):1567

MRCWeatherall Institute of MolecularMedicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/s41436-020-0886-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462741PMC
September 2020

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Authors:
Eduardo Calpena Araceli Cuellar Krithi Bala Sigrid M A Swagemakers Nils Koelling Simon J McGowan Julie M Phipps Meena Balasubramanian Michael L Cunningham Sofia Douzgou Wanda Lattanzi Jenny E V Morton Deborah Shears Astrid Weber Louise C Wilson Helen Lord Tracy Lester David Johnson Steven A Wall Stephen R F Twigg Irene M J Mathijssen Freya Boardman-Pretty Simeon A Boyadjiev Andrew O M Wilkie

Genet Med 2020 Sep 5;22(9):1498-1506. Epub 2020 Jun 5.

MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/s41436-020-0817-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462747PMC
September 2020

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.

Authors:
Cristina M Justice Araceli Cuellar Krithi Bala Jeremy A Sabourin Michael L Cunningham Karen Crawford Julie M Phipps Yan Zhou Deirdre Cilliers Jo C Byren David Johnson Steven A Wall Jenny E V Morton Peter Noons Elizabeth Sweeney Astrid Weber Katie E M Rees Louise C Wilson Emil Simeonov Radka Kaneva Nadezhda Yaneva Kiril Georgiev Assen Bussarsky Craig Senders Marike Zwienenberg James Boggan Tony Roscioli Gianpiero Tamburrini Marta Barba Kristin Conway Val C Sheffield Lawrence Brody James L Mills Denise Kay Robert J Sicko Peter H Langlois Rachel K Tittle Lorenzo D Botto Mary M Jenkins Janine M LaSalle Wanda Lattanzi Andrew O M Wilkie Alexander F Wilson Paul A Romitti Simeon A Boyadjiev

Hum Genet 2020 Aug 7;139(8):1077-1090. Epub 2020 Apr 7.

Department of Pediatrics, University of California Davis, 4625 2nd Avenue, Research Building II, Sacramento, CA, 95817, USA.

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http://dx.doi.org/10.1007/s00439-020-02157-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415527PMC
August 2020

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Authors:
Edward Steel Jane A Hurst Thomas Cullup Alistair Calder Branavan Sivakumar Pratik Shah Louise C Wilson

Clin Dysmorphol 2020 Apr;29(2):73-80

Departments of Clinical Genetics.

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http://dx.doi.org/10.1097/MCD.0000000000000311DOI Listing
April 2020

Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.

Authors:
Dorit Naot Louise C Wilson Jeremy Allgrove Eleanor Adviento Isabelle Piec David S Musson Tim Cundy Alistair D Calder

Bone 2020 01 23;130:115098. Epub 2019 Oct 23.

Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115098DOI Listing
January 2020

Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.

Authors:
Helen K Brittain Johanna Feary Mark Rosenthal Helen Spoudeas Louise C Wilson

Am J Med Genet A 2019 07 15;179(7):1346-1350. Epub 2019 May 15.

Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.61169DOI Listing
July 2019

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Authors:
Graeme E Glass Justine O'Hara Natalie Canham Deirdre Cilliers David Dunaway Aimee L Fenwick Noor-Owase Jeelani David Johnson Tracy Lester Helen Lord Jenny E V Morton Hiroshi Nishikawa Peter Noons Kemmy Schwiebert Caroleen Shipster Alison Taylor-Beadling Stephen R F Twigg Pradeep Vasudevan Steven A Wall Andrew O M Wilkie Louise C Wilson

Am J Med Genet A 2019 04 13;179(4):615-627. Epub 2019 Feb 13.

Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.61073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491982PMC
April 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.

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

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

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Authors:
Heike Biebermann Gunnar Kleinau Dirk Schnabel Detlef Bockenhauer Louise C Wilson Ian Tully Sarah Kiff Patrick Scheerer Monica Reyes Sarah Paisdzior John W Gregory Jeremy Allgrove Heiko Krude Michael Mannstadt Thomas J Gardella Mehul Dattani Harald Jüppner Annette Grüters

J Clin Endocrinol Metab 2019 04;104(4):1079-1089

Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2018-01250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380466PMC
April 2019

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Authors:
Yuri A Zarate Constance L Smith-Hicks Carol Greene Mary-Alice Abbott Victoria M Siu Amy R U L Calhoun Arti Pandya Chumei Li Elizabeth A Sellars Julie Kaylor Katherine Bosanko Louisa Kalsner Alice Basinger Anne M Slavotinek Hazel Perry Margarita Saenz Marta Szybowska Louise C Wilson Ajith Kumar Caroline Brain Meena Balasubramanian Holly Dubbs Xilma R Ortiz-Gonzalez Elaine Zackai Quinn Stein Cynthia M Powell Samantha Schrier Vergano Allison Britt Angela Sun Wendy Smith E Martina Bebin Jonathan Picker Amelia Kirby Hailey Pinz Hannah Bombei Sonal Mahida Julie S Cohen Ali Fatemi Hilary J Vernon Rebecca McClellan Leah R Fleming Brittney Knyszek Michelle Steinraths Cruz Velasco Gonzalez Anita E Beck Katie L Golden-Grant Alena Egense Aditi Parikh Chantalle Raimondi Brad Angle William Allen Suzanna Schott Adi Algrabli Nathaniel H Robin Joseph W Ray David B Everman Michael J Gambello Wendy K Chung

Am J Med Genet A 2018 04 13;176(4):925-935. Epub 2018 Feb 13.

Department of Pediatrics and Medicine, Columbia University, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38630DOI Listing
April 2018

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Authors:
Emma M Wade Zandra A Jenkins Philip B Daniel Tim Morgan Marie C Addor Lesley C Adés Debora Bertola Axel Bohring Erin Carter Tae-Joon Cho Christa M de Geus Hans-Christoph Duba Elaine Fletcher Kinga Hadzsiev Raoul C M Hennekam Chong A Kim Deborah Krakow Eva Morava Teresa Neuhann David Sillence Andrea Superti-Furga Hermine E Veenstra-Knol Dagmar Wieczorek Louise C Wilson David M Markie Stephen P Robertson

Am J Med Genet A 2017 Jul 12;173(7):1739-1746. Epub 2017 May 12.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.38267DOI Listing
July 2017

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B-Dependent Epilepsy.

Authors:
Niklas Darin Emma Reid Laurence Prunetti Lena Samuelsson Ralf A Husain Matthew Wilson Basma El Yacoubi Emma Footitt W K Chong Louise C Wilson Helen Prunty Simon Pope Simon Heales Karine Lascelles Mike Champion Evangeline Wassmer Pierangelo Veggiotti Valérie de Crécy-Lagard Philippa B Mills Peter T Clayton

Am J Hum Genet 2016 Dec;99(6):1325-1337

Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142116PMC
December 2016

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Authors:
Kerry A Miller Stephen R F Twigg Simon J McGowan Julie M Phipps Aimée L Fenwick David Johnson Steven A Wall Peter Noons Katie E M Rees Elizabeth A Tidey Judith Craft John Taylor Jenny C Taylor Jacqueline A C Goos Sigrid M A Swagemakers Irene M J Mathijssen Peter J van der Spek Helen Lord Tracy Lester Noina Abid Deirdre Cilliers Jane A Hurst Jenny E V Morton Elizabeth Sweeney Astrid Weber Louise C Wilson Andrew O M Wilkie

J Med Genet 2017 04 24;54(4):260-268. Epub 2016 Nov 24.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2016-104215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5366069PMC
April 2017

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Authors:
Emma M Wade Philip B Daniel Zandra A Jenkins Aideen McInerney-Leo Paul Leo Tim Morgan Marie Claude Addor Lesley C Adès Debora Bertola Axel Bohring Erin Carter Tae-Joon Cho Hans-Christoph Duba Elaine Fletcher Chong A Kim Deborah Krakow Eva Morava Teresa Neuhann Andrea Superti-Furga Irma Veenstra-Knol Dagmar Wieczorek Louise C Wilson Raoul C M Hennekam Andrew J Sutherland-Smith Tim M Strom Andrew O M Wilkie Matthew A Brown Emma L Duncan David M Markie Stephen P Robertson

Am J Hum Genet 2016 08 15;99(2):392-406. Epub 2016 Jul 15.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974064PMC
August 2016

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Authors:
Aimee L Fenwick Maciej Kliszczak Fay Cooper Jennie Murray Luis Sanchez-Pulido Stephen R F Twigg Anne Goriely Simon J McGowan Kerry A Miller Indira B Taylor Clare Logan Sevcan Bozdogan Sumita Danda Joanne Dixon Solaf M Elsayed Ezzat Elsobky Alice Gardham Mariette J V Hoffer Marije Koopmans Donna M McDonald-McGinn Gijs W E Santen Ravi Savarirayan Deepthi de Silva Olivier Vanakker Steven A Wall Louise C Wilson Ozge Ozalp Yuregir Elaine H Zackai Chris P Ponting Andrew P Jackson Andrew O M Wilkie Wojciech Niedzwiedz Louise S Bicknell

Am J Hum Genet 2016 07 30;99(1):125-38. Epub 2016 Jun 30.

MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, Otago 9016, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005452PMC
July 2016

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Authors:
Tazeen Ashraf Morag N Collinson Joanna Fairhurst Rubin Wang Louise C Wilson Nicola Foulds

Am J Med Genet A 2015 Dec 3;167A(12):3153-60. Epub 2015 Sep 3.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37336DOI Listing
December 2015

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Authors:
Hanneke Basart Annekatrien van de Kar Lesley Adès Tae-Joon Cho Erin Carter Saskia M Maas Louise C Wilson Chantal M A M van der Horst Emma M Wade Stephen P Robertson Raoul C Hennekam

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37044DOI Listing
June 2015

Association of mutations in FLNA with craniosynostosis.

Authors:
Nathalie Fennell Nicola Foulds Diana S Johnson Louise C Wilson Michelle Wyatt Stephen P Robertson David Johnson Steven A Wall Andrew O M Wilkie

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681PMC
December 2015

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Authors:
Paulien A Terhal Rutger Jan A J Nievelstein Eva J J Verver Vedat Topsakal Paula van Dommelen Kristien Hoornaert Martine Le Merrer Andreas Zankl Marleen E H Simon Sarah F Smithson Carlo Marcelis Bronwyn Kerr Jill Clayton-Smith Esther Kinning Sahar Mansour Frances Elmslie Linda Goodwin Annemarie H van der Hout Hermine E Veenstra-Knol Johanna C Herkert Allan M Lund Raoul C M Hennekam André Mégarbané Melissa M Lees Louise C Wilson Alison Male Jane Hurst Yasemin Alanay Göran Annerén Regina C Betz Ernie M H F Bongers Valerie Cormier-Daire Anne Dieux Albert David Mariet W Elting Jenneke van den Ende Andrew Green Johanna M van Hagen Niels Thomas Hertel Muriel Holder-Espinasse Nicolette den Hollander Tessa Homfray Hanne D Hove Susan Price Annick Raas-Rothschild Marianne Rohrbach Barbara Schroeter Mohnish Suri Elizabeth M Thompson Edward S Tobias Annick Toutain Maaike Vreeburg Emma Wakeling Nine V Knoers Paul Coucke Geert R Mortier

Am J Med Genet A 2015 Mar 21;167A(3):461-75. Epub 2015 Jan 21.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36922DOI Listing
March 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Authors:
Frank J Kaiser Morad Ansari Diana Braunholz María Concepción Gil-Rodríguez Christophe Decroos Jonathan J Wilde Christopher T Fincher Maninder Kaur Masashige Bando David J Amor Paldeep S Atwal Melanie Bahlo Christine M Bowman Jacquelyn J Bradley Han G Brunner Dinah Clark Miguel Del Campo Nataliya Di Donato Peter Diakumis Holly Dubbs David A Dyment Juliane Eckhold Sarah Ernst Jose C Ferreira Lauren J Francey Ulrike Gehlken Encarna Guillén-Navarro Yolanda Gyftodimou Bryan D Hall Raoul Hennekam Louanne Hudgins Melanie Hullings Jennifer M Hunter Helger Yntema A Micheil Innes Antonie D Kline Zita Krumina Hane Lee Kathleen Leppig Sally Ann Lynch Mark B Mallozzi Linda Mannini Shane McKee Sarju G Mehta Ieva Micule Shehla Mohammed Ellen Moran Geert R Mortier Joe-Ann S Moser Sarah E Noon Naohito Nozaki Luis Nunes John G Pappas Lynette S Penney Antonio Pérez-Aytés Michael B Petersen Beatriz Puisac Nicole Revencu Elizabeth Roeder Sulagna Saitta Angela E Scheuerle Karen L Schindeler Victoria M Siu Zornitza Stark Samuel P Strom Heidi Thiese Inga Vater Patrick Willems Kathleen Williamson Louise C Wilson Hakon Hakonarson Fabiola Quintero-Rivera Jolanta Wierzba Antonio Musio Gabriele Gillessen-Kaesbach Feliciano J Ramos Laird G Jackson Katsuhiko Shirahige Juan Pié David W Christianson Ian D Krantz David R Fitzpatrick Matthew A Deardorff

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Authors:
Miriam Schmidts Julia Vodopiutz Sonia Christou-Savina Claudio R Cortés Aideen M McInerney-Leo Richard D Emes Heleen H Arts Beyhan Tüysüz Jason D'Silva Paul J Leo Tom C Giles Machteld M Oud Jessica A Harris Marije Koopmans Mhairi Marshall Nursel Elçioglu Alma Kuechler Detlef Bockenhauer Anthony T Moore Louise C Wilson Andreas R Janecke Matthew E Hurles Warren Emmet Brooke Gardiner Berthold Streubel Belinda Dopita Andreas Zankl Hülya Kayserili Peter J Scambler Matthew A Brown Philip L Beales Carol Wicking Emma L Duncan Hannah M Mitchison

Am J Hum Genet 2013 Nov 31;93(5):932-44. Epub 2013 Oct 31.

Molecular Medicine Unit and Birth Defect Research Centre, Institute of Child Health, University College London (UCL), London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824113PMC
November 2013

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Authors:
Silvia Cappello Mary J Gray Caroline Badouel Simona Lange Melanie Einsiedler Myriam Srour David Chitayat Fadi F Hamdan Zandra A Jenkins Tim Morgan Nadia Preitner Tami Uster Jackie Thomas Patrick Shannon Victoria Morrison Nataliya Di Donato Lionel Van Maldergem Teresa Neuhann Ruth Newbury-Ecob Marielle Swinkells Paulien Terhal Louise C Wilson Petra J G Zwijnenburg Andrew J Sutherland-Smith Michael A Black David Markie Jacques L Michaud Michael A Simpson Sahar Mansour Helen McNeill Magdalena Götz Stephen P Robertson

Nat Genet 2013 Nov 22;45(11):1300-8. Epub 2013 Sep 22.

Helmholtz Center Munich, German Research Center for Environmental Health, Institute for Stem Cell Research, Neuherberg, Germany.

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http://dx.doi.org/10.1038/ng.2765DOI Listing
November 2013

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Authors:
Yasuhiro Kido Christopher T Gordon Satoru Sakazume Eya Ben Bdira Mehul Dattani Louise C Wilson Stanislas Lyonnet Nobuyuki Murakami Michael L Cunningham Jeanne Amiel Toshiro Nagai

Am J Med Genet A 2013 Sep 2;161A(9):2339-46. Epub 2013 Aug 2.

Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36066DOI Listing
September 2013

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.

Authors:
Chiara Migliore Emmanouil Athanasakis Sophie Dahoun Ambroise Wonkam Melissa Lees Olga Calabrese Fiona Connell Sally Ann Lynch Claudia Izzi Eva Pompilii Seema Thakur Merel van Maarle Louise C Wilson Germana Meroni

Eur J Med Genet 2013 Aug 19;56(8):404-10. Epub 2013 Jun 19.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.009DOI Listing
August 2013

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Authors:
Stephen R F Twigg Elena Vorgia Simon J McGowan Ioanna Peraki Aimée L Fenwick Vikram P Sharma Maryline Allegra Andreas Zaragkoulias Elham Sadighi Akha Samantha J L Knight Helen Lord Tracy Lester Louise Izatt Anne K Lampe Shehla N Mohammed Fiona J Stewart Alain Verloes Louise C Wilson Chris Healy Paul T Sharpe Peter Hammond Jim Hughes Stephen Taylor David Johnson Steven A Wall George Mavrothalassitis Andrew O M Wilkie

Nat Genet 2013 Mar 27;45(3):308-13. Epub 2013 Jan 27.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.2539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683605PMC
March 2013

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Authors:
Vikram P Sharma Aimée L Fenwick Mia S Brockop Simon J McGowan Jacqueline A C Goos A Jeannette M Hoogeboom Angela F Brady Nu Owase Jeelani Sally Ann Lynch John B Mulliken Dylan J Murray Julie M Phipps Elizabeth Sweeney Susan E Tomkins Louise C Wilson Sophia Bennett Richard J Cornall John Broxholme Alexander Kanapin David Johnson Steven A Wall Peter J van der Spek Irene M J Mathijssen Robert E Maxson Stephen R F Twigg Andrew O M Wilkie

Nat Genet 2013 Mar 27;45(3):304-7. Epub 2013 Jan 27.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.2531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3647333PMC
March 2013

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Authors:
Magdalena Harakalova Jeske J T van Harssel Paulien A Terhal Stef van Lieshout Karen Duran Ivo Renkens David J Amor Louise C Wilson Edwin P Kirk Claire L S Turner Debbie Shears Sixto Garcia-Minaur Melissa M Lees Alison Ross Hanka Venselaar Gert Vriend Hiroki Takanari Martin B Rook Marcel A G van der Heyden Folkert W Asselbergs Hans M Breur Marielle E Swinkels Ingrid J Scurr Sarah F Smithson Nine V Knoers Jasper J van der Smagt Isaac J Nijman Wigard P Kloosterman Mieke M van Haelst Gijs van Haaften Edwin Cuppen

Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ng.2324DOI Listing
May 2012

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Authors:
Sahar Mansour Marielle Swinkels Paulien A Terhal Louise C Wilson Philip Rich Lionel Van Maldergem Petra J G Zwijnenburg Christine M Hall Stephen P Robertson Ruth Newbury-Ecob

Eur J Hum Genet 2012 Oct 4;20(10):1024-31. Epub 2012 Apr 4.

South West Thames Regional Genetics Service, St George’s Hospital NHS Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2012.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449074PMC
October 2012

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Authors:
Julie Vogt Neil V Morgan Pauline Rehal Laurence Faivre Louise A Brueton Kristin Becker Jean-Pierre Fryns Sue Holder Lily Islam Emma Kivuva Sally Ann Lynch Renaud Touraine Louise C Wilson Fiona MacDonald Eamonn R Maher

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

Germline gain-of-function mutations of ALK disrupt central nervous system development.

Authors:
Loïc de Pontual Dania Kettaneh Christopher T Gordon Myriam Oufadem Nathalie Boddaert Melissa Lees Laurent Balu Eric Lachassinne Andy Petros Julie Mollet Louise C Wilson Arnold Munnich Laurence Brugière Olivier Delattre Michel Vekemans Heather Etchevers Stanislas Lyonnet Isabelle Janoueix-Lerosey Jeanne Amiel

Hum Mutat 2011 Mar;32(3):272-6

Université Paris Descartes, INSERM U-781, France.

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http://dx.doi.org/10.1002/humu.21442DOI Listing
March 2011

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Authors:
Michael J Parker Charulata Deshpande Julia Rankin Louise C Wilson Meena Balasubramanian Christine M Hall Bart E Wagner Rebecca Pollitt Ann Dalton Nicholas J Bishop

Am J Med Genet A 2011 Jun 12;155A(6):1414-8. Epub 2011 May 12.

Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.33998DOI Listing
June 2011

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

Authors:
Willy M Nillesen Helger G Yntema Marco Moscarda Nienke E Verbeek Louise C Wilson Frances Cowan Marga Schepens Annick Raas-Rothschild Orly Gafni-Weinstein Marcella Zollino Raymon Vijzelaar Giovanni Neri Marcel Nelen Hans van Bokhoven Jacques Giltay Tjitske Kleefstra

Hum Mutat 2011 Jul;32(7):853-9

Department of Human Genetics, RUNMC, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/humu.21523
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http://dx.doi.org/10.1002/humu.21523DOI Listing
July 2011

Multidisciplinary insights into optimizing adherence after solid organ transplantation.

Authors:
John G M O'Grady Argiris Asderakis Robert Bradley Lisa Burnapp Dawn M McPake Moira Perrin Sheila Russell Alan R Watson Christopher J Watson Jo Wray Louise C Wilson

Transplantation 2010 Mar;89(5):627-32

Institute of Liver Studies, King's College Hospital, London, United Kingdom.

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http://dx.doi.org/10.1097/TP.0b013e3181ca87b0DOI Listing
March 2010

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

Authors:
Khalid Hussain Raja Padidela Ritika R Kapoor Chela James Kausik Banerjee John Harper Louise C Wilson Raoul C M Hennekam

Pediatr Diabetes 2009 May 22;10(3):193-7. Epub 2008 Oct 22.

Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/j.1399-5448.2008.00470.xDOI Listing
May 2009

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Authors:
Zandra A Jenkins Margriet van Kogelenberg Tim Morgan Aaron Jeffs Ryuji Fukuzawa Esther Pearl Christina Thaller Anne V Hing Mary E Porteous Sixto Garcia-Miñaur Axel Bohring Didier Lacombe Fiona Stewart Torunn Fiskerstrand Laurence Bindoff Siren Berland Lesley C Adès Michel Tchan Albert David Louise C Wilson Raoul C M Hennekam Dian Donnai Sahar Mansour Valérie Cormier-Daire Stephen P Robertson

Nat Genet 2009 Jan 14;41(1):95-100. Epub 2008 Dec 14.

Departments of Paediatrics, Dunedin School of Medicine, Otago University, Dunedin 9054, New Zealand.

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http://dx.doi.org/10.1038/ng.270DOI Listing
January 2009

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Authors:
Diane Beysen Sarah De Jaegere David Amor Philippe Bouchard Sophie Christin-Maitre Marc Fellous Philippe Touraine Arthur W Grix Raoul Hennekam Françoise Meire Nina Oyen Louise C Wilson Dalit Barel Jill Clayton-Smith Thomy de Ravel Christian Decock Patricia Delbeke Regina Ensenauer Friedrich Ebinger Gabriele Gillessen-Kaesbach Yvonne Hendriks Virginia Kimonis Rachel Laframboise Paul Laissue Kathleen Leppig Bart P Leroy David T Miller David Mowat Luitgard Neumann Astrid Plomp Nicole Van Regemorter Dagmar Wieczorek Reiner A Veitia Anne De Paepe Elfride De Baere

Hum Mutat 2008 Nov;29(11):E205-19

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.20819DOI Listing
November 2008

Immunological abnormalities in CHARGE syndrome.

Authors:
Karin Writzl Catherine M Cale Christine M Pierce Louise C Wilson Raoul C M Hennekam

Eur J Med Genet 2007 Sep-Oct;50(5):338-45. Epub 2007 May 27.

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1016/j.ejmg.2007.05.002DOI Listing
November 2007

Cranio-osteoarthropathy in sibs.

Authors:
Tabib Dabir A M Sills Christine M Hall Chris Bennett Louise C Wilson Raoul C M Hennekam

Clin Dysmorphol 2007 Jul;16(3):197-201

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32801470d8DOI Listing
July 2007

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

Authors:
Yoko Narumi Yoko Aoki Tetsuya Niihori Giovanni Neri Hélène Cavé Alain Verloes Caroline Nava Maria Ines Kavamura Nobuhiko Okamoto Kenji Kurosawa Raoul C M Hennekam Louise C Wilson Gabriele Gillessen-Kaesbach Dagmar Wieczorek Pablo Lapunzina Hirofumi Ohashi Yoshio Makita Ikuko Kondo Shigeru Tsuchiya Etsuro Ito Kiyoko Sameshima Kumi Kato Shigeo Kure Yoichi Matsubara

Am J Med Genet A 2007 Apr;143A(8):799-807

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31658DOI Listing
April 2007

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

Authors:
Louise C Wilson Ekundayo Ajayi-Obe Birgitta Bernhard Saskia M Maas

Am J Med Genet A 2006 Dec;140(23):2625-30

Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.31374
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http://dx.doi.org/10.1002/ajmg.a.31374DOI Listing
December 2006

Albright's hereditary osteodystrophy.

Authors:
Louise C Wilson

J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:671-3

Clinical & Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK.

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http://dx.doi.org/10.1515/jpem.2006.19.s2.671DOI Listing
May 2006

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Authors:
Stephen R F Twigg Kazuya Matsumoto Alexa M J Kidd Anne Goriely Indira B Taylor Richard B Fisher A Jeannette M Hoogeboom Irene M J Mathijssen M Teresa Lourenco Jenny E V Morton Elizabeth Sweeney Louise C Wilson Han G Brunner John B Mulliken Steven A Wall Andrew O M Wilkie

Am J Hum Genet 2006 Jun 28;78(6):999-1010. Epub 2006 Apr 28.

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763921
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http://dx.doi.org/10.1086/504440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474108PMC
June 2006

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

Authors:
Manuela Morleo Tiziano Pramparo Lucia Perone Giuliana Gregato Cedric Le Caignec Robert F Mueller Tsutomu Ogata Annick Raas-Rothschild Marie Christine de Blois Louise C Wilson Gerald Zaidman Orsetta Zuffardi Andrea Ballabio Brunella Franco

Am J Med Genet A 2005 Aug;137(2):190-8

Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30864DOI Listing
August 2005

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.

Authors:
Yumiko Okubo Ken Siddle Helen Firth Steve O'Rahilly Louise C Wilson Lionel Willatt Toshiaki Fukushima Shin-ichiro Takahashi Clive J Petry Tero Saukkonen Richard Stanhope David B Dunger

J Clin Endocrinol Metab 2003 Dec;88(12):5981-8

Departments of Pediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2QQ, United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2002-021080DOI Listing
December 2003

Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

Authors:
Sarah J Rickard Louise C Wilson

Am J Hum Genet 2003 Apr 6;72(4):961-74. Epub 2003 Mar 6.

Clinical and Molecular Genetics Unit, Institute of Child Health, and Great Ormond Street Hospital NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1086/374566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180358PMC
April 2003

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.

Authors:
Louise C Wilson Christine M Hall

Semin Musculoskelet Radiol 2002 Dec;6(4):273-83

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1055/s-2002-36726DOI Listing
December 2002