Melissa Lees

Melissa Lees

UNVERIFIED PROFILE

Are you Melissa Lees?   Register this Author

Register author
Melissa Lees

Melissa Lees

Publications by authors named "Melissa Lees"

Are you Melissa Lees?   Register this Author

54Publications

2326Reads

39Profile Views

Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?

Cleft Palate Craniofac J 2019 Oct 13:1055665619880401. Epub 2019 Oct 13.

North Thames Cleft Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London and St Andrew's Centre, Broomfield Hospital, Chelmsford, Essex, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665619880401DOI Listing
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

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

DLK1 Is a Novel Link Between Reproduction and Metabolism.

J Clin Endocrinol Metab 2019 Jun;104(6):2112-2120

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2018-02010DOI Listing
June 2019

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

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

PLoS Genet 2017 03 16;13(3):e1006679. Epub 2017 Mar 16.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1006679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373641PMC
March 2017

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Mol Genet Genomic Med 2016 Jul 3;4(4):465-74. Epub 2016 Apr 3.

Centre for Genomic & Experimental MedicineMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK; Muir Maxwell Epilepsy CentreUniversity of Edinburgh20 Sylvan PlaceEdinburghEH9 1UWUK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947865PMC
July 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

Birth Defects Res A Clin Mol Teratol 2012 Jun 10;94(6):459-63. Epub 2012 Apr 10.

UCL Institute of Child Health, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23008DOI Listing
June 2012

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Pediatr Nephrol 2011 Aug 20;26(8):1331-4. Epub 2011 May 20.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-011-1884-zDOI Listing
August 2011

Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies.

Am J Med Genet A 2011 Mar 18;155A(3):577-81. Epub 2011 Feb 18.

Department of Dermatology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33104DOI Listing
March 2011

Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.

J Pediatr Surg 2008 Sep;43(9):1736-40

Department of Pediatric Surgery, King's College Hospital, SE5 9RS London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpedsurg.2008.05.012DOI Listing
September 2008

Familial risks of oral clefts.

Authors:
Melissa Lees

BMJ 2008 Feb 4;336(7641):399. Epub 2008 Feb 4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmj.39470.657685.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2249630PMC
February 2008

Two siblings with an unusual nasal malformation: further instances of craniorhiny?

Am J Med Genet A 2007 Dec;143A(24):3290-4

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32026DOI Listing
December 2007

Prenatal sonographic diagnosis of Malpuech syndrome.

Prenat Diagn 2006 Dec;26(12):1121-3

North East Thames Regional Genetics Centre, Great Ormond Street Hospital for Children, Great Ormond Street, London.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.1564
Publisher Site
http://dx.doi.org/10.1002/pd.1564DOI Listing
December 2006

Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?

Clin Dysmorphol 2006 Jul;15(3):155-9

North Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mcd.0000204987.61990.f0DOI Listing
July 2006

Submucous cleft palate: a grading system and review of 40 consecutive submucous cleft palate repairs.

Cleft Palate Craniofac J 2004 Mar;41(2):114-23

Great Ormond Street Hospital for Children, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1597/02-102DOI Listing
March 2004