Publications by authors named "Roberto Mendoza-Londono"

65Publications

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Am J Hum Genet 2020 05 2;106(5):596-610. Epub 2020 Apr 2.

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212265PMC
May 2020

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

16q22.1 microdeletion and anticipatory guidance.

Am J Med Genet A 2019 07 29;179(7):1287-1292. Epub 2019 May 29.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61155DOI Listing
July 2019

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.

Am J Med Genet A 2019 04 25;179(4):663-667. Epub 2019 Feb 25.

Division of Clinical and Metabolic Genetics and University of Toronto, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.61071
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http://dx.doi.org/10.1002/ajmg.a.61071DOI Listing
April 2019

Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome

J Clin Res Pediatr Endocrinol 2019 02 11;11(1):100-103. Epub 2018 Jul 11.

University of Toronto, Hospital for Sick Children, Clinic of Endocrinology, Toronto, Canada

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http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398189PMC
February 2019

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Am J Med Genet A 2018 02 22;176(2):450-454. Epub 2017 Dec 22.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.38570
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http://dx.doi.org/10.1002/ajmg.a.38570DOI Listing
February 2018

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Mol Genet Metab 2017 03 3;120(3):235-242. Epub 2017 Jan 3.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.12.014DOI Listing
March 2017

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Am J Hum Genet 2016 Jan 10;98(1):90-101. Epub 2015 Dec 10.

Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. Electronic address:

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http://www.cell.com/cms/attachment/2040911867/2054828527/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500457
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http://dx.doi.org/10.1016/j.ajhg.2015.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716669PMC
January 2016

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 2015 Oct 10;97(4):608-15. Epub 2015 Sep 10.

Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596891PMC
October 2015

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Hum Mol Genet 2015 Sep 9;24(17):4933-47. Epub 2015 Jun 9.

INSERM, U955, Equipe 6, 51 Avenue du Maréchal de Lattre de Tassigny, F-94000 Créteil, France, Université Paris-Est, UPEC, F-94000 Créteil, France, DHU Ageing-Thorax-Vessel-Blood, F-94000 Créteil, France,

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http://dx.doi.org/10.1093/hmg/ddv215DOI Listing
September 2015

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.

Am J Med Genet A 2014 Mar 20;164A(3):796-800. Epub 2013 Dec 20.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36356DOI Listing
March 2014

The collagenopathies: review of clinical phenotypes and molecular correlations.

Curr Rheumatol Rep 2014 Jan;16(1):394

Bone Health Centre, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 525 University Avenue, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s11926-013-0394-3DOI Listing
January 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Am J Med Genet A 2012 Nov 17;158A(11):2946-52. Epub 2012 Sep 17.

The Hospital for Sick Children, Department of Paediatric Laboratory Medicine, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35619
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http://dx.doi.org/10.1002/ajmg.a.35619DOI Listing
November 2012

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Am J Med Genet A 2012 Jul 25;158A(7):1579-88. Epub 2012 May 25.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35399DOI Listing
July 2012

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Am J Med Genet A 2012 Jun 11;158A(6):1344-54. Epub 2012 May 11.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35339DOI Listing
June 2012

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

J Child Neurol 2013 Mar 7;28(3):392-5. Epub 2012 May 7.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073812443591DOI Listing
March 2013

Imaging of SHOX-associated anomalies.

Semin Musculoskelet Radiol 2009 Sep 1;13(3):236-54. Epub 2009 Sep 1.

Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1055/s-0029-1237691DOI Listing
September 2009

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Am J Med Genet A 2009 Mar;149A(3):322-7

Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32679DOI Listing
March 2009

Generalized metabolic bone disease in Neurofibromatosis type I.

Mol Genet Metab 2008 May 4;94(1):105-11. Epub 2008 Mar 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 635E, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430595PMC
May 2008

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Am J Med Genet A 2007 May;143A(9):999-1008

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1002/ajmg.a.31689DOI Listing
May 2007

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Mol Genet Metab 2005 Sep-Oct;86(1-2):257-68

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500214
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http://dx.doi.org/10.1016/j.ymgme.2005.07.012DOI Listing
January 2006

X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation.

Retina 2005 Jan;25(1):69-74

Fundación Oftalmológica Nacional, Facultad de Medicina, Universidad del Rosario, Bogotá, Colombia.

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http://dx.doi.org/10.1097/00006982-200501000-00010DOI Listing
January 2005

Foreign-born physician-scientists.

Science 2004 Jul;305(5684):609

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http://dx.doi.org/10.1126/science.305.5684.609aDOI Listing
July 2004

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].

Am J Med Genet A 2004 Jul;128A(1):72-7

Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Clinical Care Center, 6621 Fannin, Houston, TX 77030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30094
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http://dx.doi.org/10.1002/ajmg.a.30094DOI Listing
July 2004

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development.

Am J Med Genet A 2004 Apr;126A(3):299-302

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20593
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http://dx.doi.org/10.1002/ajmg.a.20593DOI Listing
April 2004