Publications by authors named "Isabelle Thiffault"

66Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R St-Germain Lot Snijders Blok Arianna Vino Verena Klämbt Konstantin Deutsch Chen-Han Wilfred Wu Caroline M Kolvenbach Franziska Kause Isabel Ottlewski Ronen Schneider Thomas M Kitzler Amar J Majmundar Florian Buerger Ana C Onuchic-Whitford Mao Youying Amy Kolb Daanya Salmanullah Evan Chen Amelie T van der Ven Jia Rao Hadas Ityel Steve Seltzsam Johanna M Rieke Jing Chen Asaf Vivante Daw-Yang Hwang Stefan Kohl Gabriel C Dworschak Tobias Hermle Mariëlle Alders Tobias Bartolomaeus Stuart B Bauer Michelle A Baum Eva H Brilstra Thomas D Challman Jacob Zyskind Carrie E Costin Katrina M Dipple Floor A Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 Oct 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580PMC
October 2020

Pathogenic variants in gene identified by clinical whole-genome sequencing.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

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

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http://dx.doi.org/10.1101/mcs.a003970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304362PMC
June 2020

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC
April 2020

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features.

Circ Genom Precis Med 2020 04 31;13(2):e002690. Epub 2020 Jan 31.

Department of Pediatrics (J.J., A.B., B.B., J.P., I.T., C.J.S.), Children's Mercy-Kansas City.

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http://dx.doi.org/10.1161/CIRCGEN.119.002690DOI Listing
April 2020

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

Am J Hum Genet 2019 06 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:

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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.

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

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

J Child Neurol 2019 02 28;34(2):74-80. Epub 2018 Nov 28.

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

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

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

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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:

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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.

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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.

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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.

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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.

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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:

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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.

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

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

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

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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.

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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:

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

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

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.

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

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,

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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.

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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.

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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.

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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.

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