Dr. Philippe M Campeau, MD, FCCMG - University of Montreal

Dr. Philippe M Campeau

MD, FCCMG

University of Montreal

Canada

Main Specialties: Medical Genetics

ORCID logohttps://orcid.org/0000-0001-9713-7107


Top Author

Dr. Philippe M Campeau, MD, FCCMG - University of Montreal

Dr. Philippe M Campeau

MD, FCCMG

Introduction

We study epilepsy, epigenetic diseases and skeletal dysplasias. We identify disease-causing genes, decipher the pathophysiology, and improve the management of children affected by these conditions.
pcampeaulab.org

Primary Affiliation: University of Montreal - Canada

Specialties:


View Dr. Philippe M Campeau’s Resume / CV

Education

Jan 2008 - Jan 2013
Baylor College of Medicine
Postdoctoral fellowship
Molecular and Human Genetics
Jan 2003 - Jan 2008
McGill University
FRCPC, FCCMG
Human Genetics
Jan 1998 - Jan 2003
Laval University
MD
Medicine
Jan 1996 - Jan 1998
College André-Grasset

Experience

Sep 2013 - Sep 2013
Université de Montréal
Associate Professor
Pediatrics
Feb 2013 - Sep 2013
Baylor College of Medicine
Assistant Professor
Molecular and Human Genetics
Nov 2016
McGill University
Adjunct professor
Human Genetics

Publications

132Publications

7089Reads

280Profile Views

847PubMed Central Citations

Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL.

Clin Exp Dermatol 2020 Apr 18;45(3):391-394. Epub 2019 Sep 18.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

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http://dx.doi.org/10.1111/ced.14077DOI Listing
April 2020
1 Read
1.234 Impact Factor

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.

Am J Med Genet A 2020 04 27;182(4):664-672. Epub 2019 Dec 27.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61468DOI Listing
April 2020
2.159 Impact Factor

A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia.

Eur J Med Genet 2020 Apr 9;63(4):103784. Epub 2019 Oct 9.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103784DOI Listing
April 2020
3 Reads
1.486 Impact Factor

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020
10.931 Impact Factor

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Bone 2020 01 28;130:115047. Epub 2019 Aug 28.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945817PMC
January 2020
9 Reads

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
28 Reads
7.329 Impact Factor

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

Am J Hum Genet 2019 09 11;105(3):625-630. Epub 2019 Jul 11.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731352PMC
September 2019
3 Reads
10.931 Impact Factor

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

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

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019
60 Reads
7.330 Impact Factor

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Mol Genet Genomic Med 2019 07 24;7(7):e00743. Epub 2019 May 24.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mgg3.743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625143PMC
July 2019
4 Reads

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca-Activated K Channel SK3 Cause Zimmermann-Laband Syndrome.

Am J Hum Genet 2019 06 30;104(6):1139-1157. Epub 2019 May 30.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562147PMC
June 2019
13 Reads
10.931 Impact Factor

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
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019
71 Reads
7.330 Impact Factor

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019
18 Reads
10.931 Impact Factor

Genetics of the patella.

Eur J Hum Genet 2019 05 21;27(5):671-680. Epub 2019 Jan 21.

Department of Pediatrics, Centre de Recherche du CHU Ste-Justine, Montreal, Canada.

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http://www.nature.com/articles/s41431-018-0329-6
Publisher Site
http://dx.doi.org/10.1038/s41431-018-0329-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461774PMC
May 2019
35 Reads
4.349 Impact Factor

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019
19 Reads
10.742 Impact Factor

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Am J Hum Genet 2019 04 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451697PMC
April 2019
10 Reads
10.931 Impact Factor

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

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

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019
81 Reads
7.330 Impact Factor

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019
28 Reads
10.742 Impact Factor

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.

Clin Genet 2019 01 16;95(1):112-121. Epub 2018 Aug 16.

Department of Pediatrics, University of Montreal, Montreal QC, Canada.

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http://dx.doi.org/10.1111/cge.13425DOI Listing
January 2019
26 Reads
3.931 Impact Factor

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Hum Genet 2018 Dec 27;137(11-12):905-909. Epub 2018 Oct 27.

Divisions of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.

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http://link.springer.com/10.1007/s00439-018-1950-8
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http://dx.doi.org/10.1007/s00439-018-1950-8DOI Listing
December 2018
34 Reads
4.824 Impact Factor

MYOD1 involvement in myopathy.

Eur J Neurol 2018 12;25(12):e123-e124

CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/ene.13782DOI Listing
December 2018
2 Reads
4.055 Impact Factor

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

Link to publicationChromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018
1350 Reads
10.742 Impact Factor

Hot water epilepsy and SYN1 variants.

Epilepsia 2018 11;59(11):2162-2163

Child Neuropsychiatric Unit, Epilepsy Center, San Paolo Hospital, Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/epi.14572DOI Listing
November 2018
29 Reads
4.571 Impact Factor

Arginase overexpression in neurons and its effect on traumatic brain injury.

Mol Genet Metab 2018 09 25;125(1-2):112-117. Epub 2018 Jul 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175653PMC
September 2018
41 Reads
2.625 Impact Factor

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

Hum Mutat 2018 06 26;39(6):827-829. Epub 2018 Apr 26.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/humu.23426DOI Listing
June 2018
11 Reads
5.144 Impact Factor

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

Proc Natl Acad Sci U S A 2018 01 8;115(4):E620-E629. Epub 2018 Jan 8.

Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1715378115
Publisher Site
http://dx.doi.org/10.1073/pnas.1715378115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789929PMC
January 2018
9 Reads
9.809 Impact Factor

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Am J Hum Genet 2018 01;102(1):156-174

Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777983PMC
January 2018
28 Reads
10.931 Impact Factor

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017
77 Reads
11 Citations
10.931 Impact Factor

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with Mutations.

Mol Syndromol 2017 Nov 7;8(6):303-307. Epub 2017 Sep 7.

Shriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.

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http://dx.doi.org/10.1159/000479672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701276PMC
November 2017
4 Reads

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Genetics 2017 09;207(1):9-27

Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas 77030

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http://dx.doi.org/10.1534/genetics.117.203067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586389PMC
September 2017
192 Reads
13 Citations

Genomic approaches to diagnose rare bone disorders.

Bone 2017 Sep 26;102:5-14. Epub 2016 Jul 26.

CHU Sainte-Justine Research Center, Montreal, Canada; Division of Medical Genetics, Department of Pediatrics, University of Montreal, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.07.020DOI Listing
September 2017
13 Reads

Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Eur J Hum Genet 2017 09 21;25(9):1049-1054. Epub 2017 Jun 21.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1038/ejhg.2017.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558182PMC
September 2017
74 Reads
1 Citation
4.350 Impact Factor

Genetic Testing in a Cohort of Complex Esophageal Atresia.

Mol Syndromol 2017 Aug 16;8(5):236-243. Epub 2017 Jun 16.

CHU Sainte-Justine Research Center, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1159/000477429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582425PMC
August 2017
11 Reads
1 Citation

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.

Spine (Phila Pa 1976) 2017 Jul;42(14):E841-E847

*CHU Sainte-Justine Research Center, Montreal, Quebec, Canada †Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada ‡Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/BRS.0000000000001983DOI Listing
July 2017
64 Reads
2.300 Impact Factor

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

Clin Genet 2017 Jun 23;91(6):868-880. Epub 2017 Feb 23.

Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.

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http://dx.doi.org/10.1111/cge.12885DOI Listing
June 2017
15 Reads
3.931 Impact Factor

MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts.

Nat Commun 2017 04 11;8:15000. Epub 2017 Apr 11.

Program in Developmental Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/ncomms15000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394267PMC
April 2017
28 Reads
2 Citations
10.742 Impact Factor

Mutations in the phosphatidylinositol glycan C () gene are associated with epilepsy and intellectual disability.

J Med Genet 2017 03 30;54(3):196-201. Epub 2016 Sep 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2016-104202DOI Listing
March 2017
33 Reads
4 Citations
6.340 Impact Factor

FHF1 (FGF12) epileptic encephalopathy.

Neurol Genet 2016 Dec 28;2(6):e115. Epub 2016 Oct 28.

Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087254PMC
December 2016
65 Reads
3 Citations

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016
182 Reads
4 Citations
0.900 Impact Factor

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

J Inherit Metab Dis 2016 Mar 21;39(2):173-88. Epub 2015 Dec 21.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1007/s10545-015-9903-zDOI Listing
March 2016
105 Reads
1 Citation
3.370 Impact Factor

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
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http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016
76 Reads
9 Citations
10.931 Impact Factor

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.

J Med Genet 2015 Jul 22;52(7):438-45. Epub 2015 Apr 22.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501169PMC
July 2015
37 Reads
6.335 Impact Factor

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

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

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http://dx.doi.org/10.1002/ajmg.a.36899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449285PMC
June 2015
28 Reads
2.160 Impact Factor

A longitudinal study of urea cycle disorders.

Mol Genet Metab 2014 Sep-Oct;113(1-2):127-30. Epub 2014 Aug 10.

Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4178008PMC
June 2015
43 Reads
19 Citations
2.625 Impact Factor

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

Clin Genet 2015 Feb 30;87(2):133-40. Epub 2014 May 30.

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

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http://dx.doi.org/10.1111/cge.12409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529599PMC
February 2015
11 Reads
4 Citations
3.931 Impact Factor

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

J Clin Endocrinol Metab 2014 Nov 22;99(11):E2451-6. Epub 2014 Jul 22.

Department of Molecular and Human Genetics (A.R., D.L., R.G., P.C., B.L.), Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030; Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) (D.B., F.C., H.C., I.B.), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Human Genome Sequencing Center (J.T.L., R.G.), Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), Baylor College of Medicine, Houston, Texas 77030; Unidad de Metabolismo (S.K.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Unidad de Nefrología (J.M.L., G.V.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Howard Hughes Medical Institute (B.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-1517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223446PMC
November 2014
75 Reads
6.209 Impact Factor

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):327-32. Epub 2014 Aug 28.

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http://dx.doi.org/10.1002/ajmg.c.31412DOI Listing
September 2014
52 Reads
5 Citations
3.910 Impact Factor

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Hum Mol Genet 2014 Sep 20;23(R1):R1-8. Epub 2014 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Howard Hughes Medical Institute, Houston, TX 77030, USA

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http://dx.doi.org/10.1093/hmg/ddu123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170715PMC
September 2014
75 Reads
16 Citations
6.393 Impact Factor

Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.

N Engl J Med 2014 Aug;371(7):593-6

From the Human Genome Sequencing Center and the Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), and the Department of Molecular and Human Genetics (B.H.L)., Baylor College of Medicine; and the Howard Hughes Medical Institutes (B.H.L.) - both in Houston; and the Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal (P.M.C.).

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http://dx.doi.org/10.1056/NEJMp1400788DOI Listing
August 2014
40 Reads
15 Citations
55.873 Impact Factor

Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.

Am J Physiol Gastrointest Liver Physiol 2014 Aug 5;307(3):G347-54. Epub 2014 Jun 5.

Department of Molecular and Human Genetics, Baylor College of Medicine; Howard Hughes Medical Institute, Houston, Texas

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http://dx.doi.org/10.1152/ajpgi.00403.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121640PMC
August 2014
5 Reads
7 Citations
3.800 Impact Factor

The undernourished neonatal mouse metabolome reveals evidence of liver and biliary dysfunction, inflammation, and oxidative stress.

J Nutr 2014 Mar 31;144(3):273-81. Epub 2013 Dec 31.

Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.

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http://dx.doi.org/10.3945/jn.113.183731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927544PMC
March 2014
67 Reads
8 Citations
3.880 Impact Factor

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Mol Genet Metab Rep 2014 ;1:213-219

Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal; Medical genetics service, Room 6727, Sainte-Justine Hospital, 3175, Côte-Sainte-Catherine, Montréal QC Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.ymgmr.2014.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4088274PMC
January 2014
68 Reads
2 Citations

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Eur J Med Genet 2013 Dec 28;56(12):678-82. Epub 2013 Oct 28.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902017PMC
December 2013
80 Reads
16 Citations
1.490 Impact Factor

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

J Bone Miner Res 2013 Nov;28(11):2333-7

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

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http://dx.doi.org/10.1002/jbmr.1983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800501PMC
November 2013
44 Reads
7 Citations
6.832 Impact Factor

Next-generation sequencing for disorders of low and high bone mineral density.

Osteoporos Int 2013 Aug 27;24(8):2253-9. Epub 2013 Feb 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, R814, MS225, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00198-013-2290-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709009PMC
August 2013
1 Read
4.169 Impact Factor

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.

J Bone Miner Res 2013 Jul;28(7):1523-30

Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institution, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/jbmr.1891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3688672PMC
July 2013
48 Reads
18 Citations
6.832 Impact Factor

Early childhood presentation of Czech dysplasia.

Clin Dysmorphol 2013 Apr;22(2):76-80

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32835fff39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673284PMC
April 2013
72 Reads
2 Citations
0.420 Impact Factor

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Hum Mutat 2013 Jan 9;34(1):97-102. Epub 2012 Nov 9.

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/humu.22222DOI Listing
January 2013
65 Reads
11 Citations
5.144 Impact Factor

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Hum Mutat 2012 Nov 12;33(11):1520-5. Epub 2012 Jul 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/humu.22141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696352PMC
November 2012
55 Reads
15 Citations
5.144 Impact Factor

miRNA-34c regulates Notch signaling during bone development.

Hum Mol Genet 2012 Jul 12;21(13):2991-3000. Epub 2012 Apr 12.

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

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http://dx.doi.org/10.1093/hmg/dds129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373245PMC
July 2012
74 Reads
53 Citations
6.393 Impact Factor

Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study.

Mol Genet Metab 2010 19;100 Suppl 1:S84-7. Epub 2010 Feb 19.

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

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http://dx.doi.org/10.1016/j.ymgme.2010.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867349PMC
July 2010
9 Reads
6 Citations
2.625 Impact Factor

Management of West syndrome in a patient with methylmalonic aciduria.

J Child Neurol 2010 Jan 21;25(1):94-7. Epub 2009 Aug 21.

Department of Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1177/0883073809336119DOI Listing
January 2010
33 Reads
5 Citations
1.670 Impact Factor

Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome.

Blood 2009 Oct 8;114(15):3181-90. Epub 2009 Jul 8.

Montreal Centre for Experimental Therapeutics in Cancer, Lady Davis Institute for Medical Research, Montreal, QC, Canada.

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http://dx.doi.org/10.1182/blood-2009-02-205708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925728PMC
October 2009
32 Reads
23 Citations
10.452 Impact Factor

Clinical heterogeneity in ethylmalonic encephalopathy.

J Child Neurol 2009 Aug 16;24(8):991-6. Epub 2009 Mar 16.

Department of Pediatrics, Université de Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1177/0883073808331359DOI Listing
August 2009
11 Reads
2 Citations
1.670 Impact Factor

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

Mol Genet Metab 2009 Jul 24;97(3):172-8. Epub 2009 Mar 24.

Metabolic Center, Necker Enfants-Malades Hospital, Assistance-Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2009.03.006DOI Listing
July 2009
43 Reads
11 Citations
2.625 Impact Factor

Mesenchymal stromal cells ameliorate experimental autoimmune encephalomyelitis by inhibiting CD4 Th17 T cells in a CC chemokine ligand 2-dependent manner.

J Immunol 2009 May;182(10):5994-6002

Montreal Center for Experimental Therapeutics in Cancer, Lady Davis Institute for Medical Research, Montreal, Quebec, Canada.

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http://dx.doi.org/10.4049/jimmunol.0803962DOI Listing
May 2009
25 Reads
105 Citations
4.922 Impact Factor

Selective inhibition of CCR2 expressing lymphomyeloid cells in experimental autoimmune encephalomyelitis by a GM-CSF-MCP1 fusokine.

J Immunol 2009 Mar;182(5):2620-7

The Montreal Center for Experimental Therapeutics in Cancer, McGill University, Montreal, Canada.

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http://dx.doi.org/10.4049/jimmunol.0803495DOI Listing
March 2009
15 Reads
5 Citations
4.922 Impact Factor

Mesenchymal stromal cells engineered to express erythropoietin induce anti-erythropoietin antibodies and anemia in allorecipients.

Mol Ther 2009 Feb 16;17(2):369-72. Epub 2008 Dec 16.

The Montreal Center for Experimental Therapeutics in Cancer, Lady Davis Institute for Medical Research, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/mt.2008.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2835073PMC
February 2009
20 Reads
9 Citations
6.230 Impact Factor

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Am J Med Genet A 2008 Dec;146A(23):3062-9

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32563DOI Listing
December 2008
56 Reads
6 Citations
2.160 Impact Factor

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

Mol Genet Metab 2008 Sep-Oct;95(1-2):11-6. Epub 2008 Aug 12.

Division of Medical Genetics, Department of Pediatrics, A-608, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2008.07.001DOI Listing
November 2008
17 Reads
7 Citations
2.625 Impact Factor

Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Hum Genet 2008 Aug 25;124(1):31-42. Epub 2008 Jun 25.

Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s00439-008-0529-1DOI Listing
August 2008
36 Reads
70 Citations
4.824 Impact Factor

Neurotransmitter diseases and related conditions.

Mol Genet Metab 2007 Nov;92(3):189-97

Department of Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2007.08.117DOI Listing
November 2007
22 Reads
2.625 Impact Factor

Transfection of large plasmids in primary human myoblasts.

Gene Ther 2001 Sep;8(18):1387-94

Unité de Recherche en Génétique Humaine, Centre de Recherche du CHUL, CHUQ, Faculté de Médecine, Université Laval, Ste-Foy, Québec, Canada.

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http://dx.doi.org/10.1038/sj.gt.3301532DOI Listing
September 2001
1 Read
3.104 Impact Factor

Functional EGFP-dystrophin fusion proteins for gene therapy vector development.

Protein Eng 2000 Sep;13(9):611-5

Unité de Recherche en Génétique Humaine, Centre Hospitalier de l'Université Laval, CHUQ, Faculté de Médecine, Université Laval, Sainte-Foy, Québec, G1V 4G2, Canada.

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September 2000
11 Reads
7 Citations

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