Publications by authors named "Thi Tuyet Mai Nguyen"

23Publications

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

Authors:
Stephanie Efthymiou Marina Dutra-Clarke Reza Maroofian Rauan Kaiyrzhanov Marcello Scala Javeria Reza Alvi Tipu Sultan Marilena Christoforou Thi Tuyet Mai Nguyen Kshitij Mankad Barbara Vona Aboulfazl Rad Pasquale Striano Vincenzo Salpietro Maria J Guillen Sacoto Maha S Zaki Joseph G Gleeson Philippe M Campeau Bianca E Russell Henry Houlden

Epilepsia 2021 Feb 7;62(2):e35-e41. Epub 2021 Jan 7.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.

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February 2021

PIGF deficiency causes a phenotype overlapping with DOORS syndrome.

Authors:
Smrithi Salian Hind Benkerroum Thi Tuyet Mai Nguyen Sheela Nampoothiri Taroh Kinoshita Têmis Maria Félix Fiona Stewart Sanjay M Sisodiya Yoshiko Murakami Philippe M Campeau

Hum Genet 2021 Jan 2. Epub 2021 Jan 2.

Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

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January 2021

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Authors:
Camille Tremblay-Laganière Rauan Kaiyrzhanov Reza Maroofian Thi Tuyet Mai Nguyen Kamran Salayev Ilana T Chilton Wendy K Chung Jill A Madden Chanika Phornphutkul Pankaj B Agrawal Henry Houlden Philippe M Campeau

Clin Genet 2021 Feb 27;99(2):313-317. Epub 2020 Nov 27.

Department of Pediatrics, CHU Sainte-Justine, Montreal, QC, Canada.

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February 2021

MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction.

Authors:
Jad I Belle HanChen Wang Amanda Fiore Jessica C Petrov Yun Hsiao Lin Chu-Han Feng Thi Tuyet Mai Nguyen Jacky Tung Philippe M Campeau Uta Behrends Theresa Brunet Gloria Sarah Leszinski Philippe Gros David Langlais Anastasia Nijnik

JCI Insight 2020 07 9;5(13). Epub 2020 Jul 9.

Department of Physiology.

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July 2020

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Authors:
Devon L Johnstone Thi Tuyet Mai Nguyen Jessica Zambonin Kristin D Kernohan Anik St-Denis Nissan V Baratang Taila Hartley Michael T Geraghty Julie Richer Jacek Majewski Eric Bareke Andrea Guerin Manuela Pendziwiat Loren D M Pena Hilde M H Braakman Karen W Gripp Andrew C Edmondson Miao He Rebecca C Spillmann Erik A Eklund Allan Bayat Hugh J McMillan Kym M Boycott Philippe M Campeau

J Inherit Metab Dis 2020 11 3;43(6):1321-1332. Epub 2020 Aug 3.

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

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November 2020

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Authors:
Thi Tuyet Mai Nguyen Yoshiko Murakami Sabrina Mobilio Marcello Niceta Giuseppe Zampino Christophe Philippe Sébastien Moutton Maha S Zaki Kiely N James Damir Musaev Weiyi Mu Kristin Baranano Jessica R Nance Jill A Rosenfeld Nancy Braverman Andrea Ciolfi Francisca Millan Richard E Person Ange-Line Bruel Christel Thauvin-Robinet Athina Ververi Catherine DeVile Alison Male Stephanie Efthymiou Reza Maroofian Henry Houlden Shazia Maqbool Fatima Rahman Nissan V Baratang Justine Rousseau Anik St-Denis Matthew J Elrick Irina Anselm Lance H Rodan Marco Tartaglia Joseph Gleeson Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2020 04 26;106(4):484-495. Epub 2020 Mar 26.

CHU-Sainte Justine Research Center, University of Montreal, Montreal, QC, Canada, H3T1C5; Department of Pediatrics, University of Montreal, Montreal, QC, Canada, H3T1C5. Electronic address:

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April 2020

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.

Authors:
Miles D Thompson Alexej A Knaus Bruce A Barshop Almuth Caliebe Hiltrud Muhle Thi Tuyet Mai Nguyen Nissan V Baratang Taroh Kinoshita Maire E Percy Philippe M Campeau Yoshiko Murakami David E Cole Peter M Krawitz C Charlton Mabry

Eur J Med Genet 2020 Apr 2;63(4):103822. Epub 2019 Dec 2.

Department of Pediatrics, College of Medicine, University of Kentucky, United States.

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April 2020

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

Authors:
Norbert F Ajeawung Thi Tuyet Mai Nguyen Linchao Lu Thomas J Kucharski Justine Rousseau Sirinart Molidperee Joshua Atienza Isabel Gamache Weidong Jin Sharon E Plon Brendan H Lee Jose G Teodoro Lisa L Wang Philippe M Campeau

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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September 2019

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Authors:
Yoshiko Murakami Thi Tuyet Mai Nguyen Nissan Baratang Praveen K Raju Alexej Knaus Sian Ellard Gabriela Jones Baiba Lace Justine Rousseau Norbert Fonya Ajeawung Atsushi Kamei Gaku Minase Manami Akasaka Nami Araya Eriko Koshimizu Jenneke van den Ende Florian Erger Janine Altmüller Zita Krumina Jurgis Strautmanis Inna Inashkina Janis Stavusis Areeg El-Gharbawy Jessica Sebastian Ratna Dua Puri Samarth Kulshrestha Ishwar C Verma Esther M Maier Tobias B Haack Anil Israni Julia Baptista Adam Gunning Jill A Rosenfeld Pengfei Liu Marieke Joosten María Eugenia Rocha Mais O Hashem Hesham M Aldhalaan Fowzan S Alkuraya Satoko Miyatake Naomichi Matsumoto Peter M Krawitz Elsa Rossignol Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2019 08 27;105(2):384-394. Epub 2019 Jun 27.

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

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August 2019

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Authors:
Nissan Vida Baratang Daniel Alexander Jimenez Cruz Norbert Fonya Ajeawung Thi Tuyet Mai Nguyen Guillermo Pacheco-Cuéllar Philippe M Campeau

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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July 2019

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Authors:
René G Feichtinger Bettina E Mucha Holger Hengel Zakaria Orfi Christine Makowski Junio Dort Guy D'Anjou Thi Tuyet Mai Nguyen Rebecca Buchert Hendrik Juenger Peter Freisinger Sarah Baumeister Benedikt Schoser Uwe Ahting Reinhard Keimer Cam-Tu Emilie Nguyen Paul Fabre Julie Gauthier Marguerite Miguet Fátima Lopes Afnan AlHakeem Amal AlHashem Brahim Tabarki Krishna Kumar Kandaswamy Peter Bauer Peter Steinbacher Holger Prokisch Marc Sturm Tim M Strom Benjamin Ellezam Johannes A Mayr Ludger Schöls Jacques L Michaud Philippe M Campeau Tobias B Haack Nicolas A Dumont

Genet Med 2019 11 16;21(11):2521-2531. Epub 2019 May 16.

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

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November 2019

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Authors:
Keren Machol Justine Rousseau Sophie Ehresmann Thomas Garcia Thi Tuyet Mai Nguyen Rebecca C Spillmann Jennifer A Sullivan Vandana Shashi Yong-Hui Jiang Nicholas Stong Elise Fiala Marcia Willing Rolph Pfundt Tjitske Kleefstra Megan T Cho Heather McLaughlin Monica Rosello Piera Carmen Orellana Francisco Martínez Alfonso Caro-Llopis Sandra Monfort Tony Roscioli Cheng Yee Nixon Michael F Buckley Anne Turner Wendy D Jones Peter M van Hasselt Floris C Hofstede Koen L I van Gassen Alice S Brooks Marjon A van Slegtenhorst Katherine Lachlan Jessica Sebastian Suneeta Madan-Khetarpal Desai Sonal Naidu Sakkubai Julien Thevenon Laurence Faivre Alice Maurel Slavé Petrovski Ian D Krantz Jennifer M Tarpinian Jill A Rosenfeld Brendan H Lee Philippe M Campeau

Am J Hum Genet 2019 01 20;104(1):164-178. Epub 2018 Dec 20.

Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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January 2019

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Authors:
Thi Tuyet Mai Nguyen Yoshiko Murakami Kristen M Wigby Nissan V Baratang Justine Rousseau Anik St-Denis Jill A Rosenfeld Stephanie C Laniewski Julie Jones Alejandro D Iglesias Marilyn C Jones Diane Masser-Frye Angela E Scheuerle Denise L Perry Ryan J Taft Françoise Le Deist Miles Thompson Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2018 10 27;103(4):602-611. Epub 2018 Sep 27.

Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada. Electronic address:

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October 2018

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.

Authors:
Kara Bellai-Dussault Thi Tuyet Mai Nguyen Nissan V Baratang Daniel A Jimenez-Cruz Philippe M Campeau

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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January 2019

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

Authors:
Thi Tuyet Mai Nguyen Sonal Mahida Constance Smith-Hicks Philippe M Campeau

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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June 2018

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Authors:
Jean-Luc Alessandri Christopher T Gordon Marie-Line Jacquemont Nicolas Gruchy Norbert F Ajeawung Guillaume Benoist Myriam Oufadem Asma Chebil Yannis Duffourd Coralie Dumont Marion Gérard Paul Kuentz Thibaud Jouan Francesca Filippini Thi Tuyet Mai Nguyen Olivier Alibeu Christine Bole-Feysot Patrick Nitschké Asma Omarjee Duksha Ramful Hanitra Randrianaivo Bérénice Doray Laurence Faivre Jeanne Amiel Philippe M Campeau Julien Thevenon

Eur J Hum Genet 2018 03 12;26(3):340-349. Epub 2018 Jan 12.

INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.

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March 2018

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Authors:
Thi Tuyet Mai Nguyen Yoshiko Murakami Eamonn Sheridan Sophie Ehresmann Justine Rousseau Anik St-Denis Guoliang Chai Norbert F Ajeawung Laura Fairbrother Tyler Reimschisel Alexandra Bateman Elizabeth Berry-Kravis Fan Xia Jessica Tardif David A Parry Clare V Logan Christine Diggle Christopher P Bennett Louise Hattingh Jill A Rosenfeld Michael Scott Perry Michael J Parker Françoise Le Deist Maha S Zaki Erika Ignatius Pirjo Isohanni Tuula Lönnqvist Christopher J Carroll Colin A Johnson Joseph G Gleeson Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2017 Nov;101(5):856-865

Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1J4, Canada. Electronic address:

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November 2017

Four New Lignans and IL-2 Inhibitors from Magnoliae Flos.

Authors:
Thi Tuyet Mai Nguyen Hyun-Su Lee Thi Thu Nguyen Thi Quynh Mai Ngo Chang-Duk Jun Byung Sun Min Jeong Ah Kim

Chem Pharm Bull (Tokyo) 2017 ;65(9):840-847

College of Pharmacy, Research Institute of Pharmaceutical Sciences, Kyungpook National University.

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October 2017

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Authors:
Devon L Johnstone Thi-Tuyet-Mai Nguyen Yoshiko Murakami Kristin D Kernohan Martine Tétreault Claire Goldsmith Asif Doja Justin D Wagner Lijia Huang Taila Hartley Anik St-Denis Françoise le Deist Jacek Majewski Dennis E Bulman Taroh Kinoshita David A Dyment Kym M Boycott Philippe M Campeau

Hum Mol Genet 2017 05;26(9):1706-1715

Research Center, CHU Sainte-Justine, University of Montreal, Montreal, Quebec H3T1C5, Canada.

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May 2017

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

Authors:
Kezhi Yan Justine Rousseau Rebecca Okashah Littlejohn Courtney Kiss Anna Lehman Jill A Rosenfeld Constance T R Stumpel Alexander P A Stegmann Laurie Robak Fernando Scaglia Thi Tuyet Mai Nguyen He Fu Norbert F Ajeawung Maria Vittoria Camurri Lin Li Alice Gardham Bianca Panis Mohammed Almannai Maria J Guillen Sacoto Berivan Baskin Claudia Ruivenkamp Fan Xia Weimin Bi Megan T Cho Thomas P Potjer Gijs W E Santen Michael J Parker Natalie Canham Margaret McKinnon Lorraine Potocki Jennifer J MacKenzie Elizabeth R Roeder Philippe M Campeau Xiang-Jiao Yang

Am J Hum Genet 2017 Jan 8;100(1):91-104. Epub 2016 Dec 8.

Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. Electronic address:

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January 2017