Isabelle Thiffault

Isabelle Thiffault

UNVERIFIED PROFILE

Are you Isabelle Thiffault?   Register this Author

Register author
Isabelle Thiffault

Isabelle Thiffault

Publications by authors named "Isabelle Thiffault"

Are you Isabelle Thiffault?   Register this Author

55Publications

1476Reads

37Profile Views

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.

Orthod Craniofac Res 2019 May;22 Suppl 1:49-55

University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ocr.12266DOI Listing
May 2019

Clinical genome sequencing in an unbiased pediatric cohort.

Genet Med 2019 02 16;21(2):303-310. Epub 2018 Jul 16.

Center for Pediatric Genomic Medicine Children's Mercy-Kansas City, Kansas City, Missouri, 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0075-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752301PMC
February 2019

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

J Child Neurol 2019 Feb 28;34(2):74-80. Epub 2018 Nov 28.

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073818811223DOI Listing
February 2019

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

Am J Med Genet A 2018 02 23;176(2):359-367. Epub 2017 Dec 23.

Department of Pathology, Children's Mercy Hospital, Kansas City, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38577DOI Listing
February 2018

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

BMC Med Genet 2017 11 2;18(1):124. Epub 2017 Nov 2.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-017-0481-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668960PMC
November 2017

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome.

Front Pediatr 2017 19;5:71. Epub 2017 Apr 19.

Department of Pathology and Laboratory Medicine, University of Kansas School of Medicine, Kansas City, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2017.00071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395656PMC
April 2017

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Am J Med Genet A 2016 12 9;170(12):3343-3346. Epub 2016 Sep 9.

Spectrum Health Hospitals, Grand Rapids, Michigan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37960DOI Listing
December 2016

Expert opinion and caution are imperative for interpretation of next generation sequencing data.

Eur J Med Genet 2016 Oct 12;59(10):519-21. Epub 2016 Aug 12.

Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.08.002DOI Listing
October 2016

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Am J Med Genet A 2016 06 26;170(6):1585-9. Epub 2016 Mar 26.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37617DOI Listing
June 2016

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

J Allergy Clin Immunol 2016 05 26;137(5):1591-1595.e4. Epub 2015 Nov 26.

Department of Translational Medical Sciences, Federico II University of Naples, Naples, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2015.09.050DOI Listing
May 2016

The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.

Pediatrics 2016 Jan;137 Suppl 1:S3-7

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Kansas City, Missouri; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, Kansas City, Missouri; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2015-3731CDOI Listing
January 2016

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

J Gen Physiol 2015 Nov;146(5):399-410

Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616 Department of Neurobiology, Physiology and Behavior, Department of Physiology and Membrane Biology, and Department of Anesthesiology and Pain Medicine, University of California, Davis, Davis, CA 95616

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1085/jgp.201511444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621747PMC
November 2015

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Orphanet J Rare Dis 2015 Jun 5;10:69. Epub 2015 Jun 5.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montréal, QC, H4A 3J1, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0279-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520020PMC
June 2015

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Lancet Respir Med 2015 May 27;3(5):377-87. Epub 2015 Apr 27.

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2213-2600(15)00139-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479194PMC
May 2015

Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature.

Prenat Diagn 2015 Mar 19;35(3):305-7. Epub 2014 Nov 19.

Medical Genetics Division Sainte-Justine Mother Child University Hospital Center, University of Montreal, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4518DOI Listing
March 2015

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Sci Transl Med 2014 Dec;6(265):265ra168

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scitranslmed.3010076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286868PMC
December 2014

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

Neurogenetics 2014 Aug 21;15(3):161-4. Epub 2014 Jun 21.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 2300 Tupper Street, Montreal, QC, H3H 1P3, Canada,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-014-0412-2DOI Listing
August 2014

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.

Hum Mutat 2012 Aug 7;33(8):1201-6. Epub 2012 May 7.

Montreal Neurological Institute, McGill University, Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22098DOI Listing
August 2012

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Brain 2011 Feb 28;134(Pt 2):602-7. Epub 2010 Nov 28.

Centre of Excellence in Neuromics, CHUM Notre-Dame Hospital, Department of Medicine, University of Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awq329DOI Listing
February 2011

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Neurogenetics 2010 Oct 17;11(4):457-64. Epub 2010 Jul 17.

Laboratoire de neurogénétique de la motricité, Neuromics Center for Excellence of Université de Montréal, CRCHUM, 1560 Sherbrooke East, Montreal, Quebec, H2L 4M1, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-010-0251-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147760PMC
October 2010

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Neuromuscul Disord 2008 Jun 3;18(6):483-92. Epub 2008 Jun 3.

Laboratoire de neurogénétique de la motricité, Centre d'Excellence en Neuromique de l'Université de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame-CHUM, Montréal, Que., Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2008.04.001DOI Listing
June 2008