I. Thiffault

发表

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Laurie D. Smith, S. Kingsmore, Byunggil Yoo, 2015, Genome Medicine.

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

Carol J. Saunders, E. Farrow, C. Saunders, 2016, Front. Immunol..

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

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

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

Neil A. Miller, Carol J. Saunders, N. Miller, 2017, BMC Medical Genetics.

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

Xuan Yuan, Stephen F. Kingsmore, Laurie D. Smith, 2014, Science Translational Medicine.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Carol J. Saunders, R. Pfundt, E. Bertini, 2016, American journal of human genetics.

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

E. Farrow, C. Saunders, I. Thiffault, 2016, American journal of medical genetics. Part A.

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

D. Nickerson, M. Bamshad, I. Thiffault, 2020, EMBO molecular medicine.

Laurie D. Smith, Neil A. Miller, N. Miller, 2016, American journal of medical genetics. Part A.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European journal of human genetics : EJHG.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

J. Rosenfeld, R. Pfundt, E. Eichler, 2020, Human mutation.

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

R. Pfundt, M. Reijnders, D. Schubert, 2019, bioRxiv.

2015 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference

S. Kingsmore, N. Miller, E. Farrow, 2015, Journal of Clinical Immunology.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

I. Thiffault, G. Rouleau, F. Hamdan, 2014, European Journal of Human Genetics.

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

I. Thiffault, B. Brais, B. Banwell, 2006, Brain : a journal of neurology.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

J. Yates, A. Vanderver, D. Timmann, 2015, Nature Communications.

Expanded phenotype of AARS1-related white matter disease

A. Vanderver, R. Schiffmann, R. Carrozzo, 2021, Genetics in Medicine.

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

I. Thiffault, J. Bouchard, B. Brais, 2006, Brain : a journal of neurology.

An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1

P. Hutter, W. Foulkes, I. Thiffault, 2002, Journal of medical genetics.

An MLH 1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH 1

P. Hutter, W. Foulkes, I. Thiffault, 2002 .

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

E. Bertini, A. Vanderver, D. Timmann, 2019, Neurology. Genetics.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

Carol J. Saunders, E. Farrow, L. Willig, 2018, neurogenetics.

Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series

E. Farrow, C. Saunders, I. Thiffault, 2022, Clinical genetics.

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

C. Saunders, I. Thiffault, N. Safina, 2018, American journal of medical genetics. Part A.

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

Laurie A. Smith, Neil A. Miller, N. Miller, 2016, BMC Medical Genetics.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Joshua L. Deignan, Lora J. H. Bean, J. Rosenfeld, 2020, American journal of medical genetics. Part A.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Adam C Gunning, E. Zackai, H. Hakonarson, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype

Scott C. Smith, C. Saunders, I. Thiffault, 2021, Human mutation.

Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.

Neil A. Miller, Byunggil Yoo, N. Miller, 2022, Clinical chemistry.

Many clinical laboratories performing next-generation sequencing have no future plans to migrate to GRCh38

Lei Zhang, Midhat S. Farooqi, Byunggil Yoo, 2021 .

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

I. Thiffault, B. Brais, J. Puymirat, 2007, Neurology.

C. Saunders, I. Thiffault, A. Barnes, 2020, Circulation. Genomic and precision medicine.

Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care

E. Farrow, L. Willig, C. Saunders, 2021, Genetics in Medicine.

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

I. Thiffault, J. Majewski, S. Chénier, 2018, Journal of child neurology.

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Warren A. Cheung, W. Rowell, Byunggil Yoo, 2023, Nature communications.

The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men

W. Foulkes, I. Thiffault, N. Hamel, 2003, Journal of medical genetics.

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

A. Vanderver, I. Thiffault, J. Bouchard, 2010, neurogenetics.

Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia

C. Saunders, I. Thiffault, F. del Viso, 2022, American journal of medical genetics. Part A.

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

A. Hoischen, M. Eberle, E. Farrow, 2022, bioRxiv.

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome

W. Foulkes, C. Schwartz, I. Thiffault, 2004, American journal of medical genetics. Part A.

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

M. Bainbridge, I. Thiffault, A. Torkamani, 2022, Brain : a journal of neurology.

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

I. Thiffault, T. Pastinen, A. Bayat, 2022, Journal of Medical Genetics.

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015 .

An integrated transcriptome and expressed variant analysis of sepsis survival and death

Lawrence Carin, Geoffrey S Ginsburg, Charles B Cairns, 2014, Genome Medicine.

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

Carol J. Saunders, E. Farrow, C. Saunders, 2019, Orthodontics & craniofacial research.

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

E. Shoubridge, H. Antonicka, I. Thiffault, 2015, Human molecular genetics.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

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

Stephen F. Kingsmore, James S. Trimmer, Jon T. Sack, 2015, The Journal of general physiology.

Founder Mutation for a-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster

I. Thiffault, B. Brais, M. Tétreault, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing

Neil A. Miller, E. Farrow, C. Saunders, 2018, Human mutation.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

W. Chung, E. Roeder, C. Saunders, 2020, American journal of medical genetics. Part A.

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

C. Saunders, I. Thiffault, C. Dinakar, 2017, Front. Pediatr..

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

I. Thiffault, E. Lemyre, J. Dubé, 2015, Prenatal diagnosis.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Robert W. Taylor, Carol J. Saunders, C. Saunders, 2018, Human molecular genetics.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

I. Thiffault, C. Brownstein, A. Bayat, 2021, European Journal of Human Genetics.

An integrated transcriptome and expressed variant analysis of sepsis survival and death

Laurie D. Smith, Neil A. Miller, Ricardo Henao, 2014, Genome Medicine.

Clinical detection of deletion structural variants in whole-genome sequences

Byunggil Yoo, Laurie D. Smith, Julie Cakici, 2016, npj Genomic Medicine.

[Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada].

I. Thiffault, J. Bouchard, B. Brais, 2008, Revue neurologique.

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Neil A. Miller, E. Farrow, C. Saunders, 2018, BMC Medical Genetics.

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, Human mutation.

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Neil A. Miller, S. Kingsmore, E. Farrow, 2015, BMC Medical Genetics.

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

T. Pandita, I. Thiffault, G. B. Schaefer, 2019, The Journal of clinical investigation.

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

Laurie D. Smith, Shannon L Carpenter, Greyson Twist, 2015, The Lancet. Respiratory medicine.

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Jean-Pierre Bouchard, Hugo J. Bellen, Geneviève Bernard, 2012, PLoS biology.

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, American journal of human genetics.

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

W. Foulkes, F. Odefrey, I. Thiffault, 2004, British Journal of Cancer.

1-1-2016 Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

Alessandro, E. Farrow, C. Saunders, 2019 .

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

I. Thiffault, G. Bernard, 2016, European journal of medical genetics.

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

I. Thiffault, J. Lantos, 2016, Pediatrics.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2017, npj Genomic Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, Genome Medicine.

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2017, bioRxiv.

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

I. Thiffault, M. Lyons, R. Louie, 2021, American journal of medical genetics. Part A.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

E. Zackai, H. Hakonarson, C. Saunders, 2019, European journal of medical genetics.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

I. Thiffault, F. Santos-Simarro, E. Engle, 2019, Clinical genetics.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Orion J. Buske, Nigel J. Price, Warren A. Cheung, 2021, medRxiv.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

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

Neil A. Miller, E. Farrow, C. Saunders, 2020, Cold Spring Harbor molecular case studies.

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

E. Shoubridge, I. Thiffault, F. Sasarman, 2012, Human mutation.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

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

I. Thiffault, B. Coulombe, B. Weschke, 2018, American journal of human genetics.

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Mercedes E. Alejandro, Alyssa A. Tran, J. Rosenfeld, 2019, bioRxiv.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, Nature Genetics.

Factors affecting migration to GRCh38 in laboratories performing clinical next-generation sequencing.

Neil A. Miller, E. Farrow, C. Saunders, 2021, The Journal of molecular diagnostics : JMD.

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

Stephan J Sanders, C. Freitag, W. van Paesschen, 2018, American journal of human genetics.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

I. Thiffault, M. S. van der Knaap, G. Bernard, 2015, Orphanet Journal of Rare Diseases.

Coming up to Speed on Whole Genome Sequencing in Critically Ill Children

E. Farrow, C. Saunders, I. Thiffault, 2018, Advances in Molecular Pathology.

Clinical genome sequencing in an unbiased pediatric cohort

Emily Farrow, Neil Miller, Raymond Caylor, 2018, Genetics in Medicine.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Neil A. Miller, E. Farrow, I. Thiffault, 2018, Brain : a journal of neurology.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, Annals of neurology.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, bioRxiv.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

E. Sell, E. Shoubridge, E. Farrow, 2017, Human mutation.

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

P. Gregersen, M. King, C. Greenwood, 2002, American journal of human genetics.

The Value of Multi-Modal Gene Screening in HNPCC in Quebec: Three Mutations in Mismatch Repair Genes that would have not been Correctly Identified by Genomic DNA Sequencing Alone

W. Foulkes, I. Thiffault, P. gordon, 2005, Familial Cancer.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

I. Thiffault, J. Bouchard, B. Brais, 2007 .

Putative common origin of two MLH1 mutations in Italian‐Quebec hereditary non‐polyposis colorectal cancer families

P. Hutter, I. Thiffault, P. Radice, 2004, Clinical genetics.

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

E. Shoubridge, I. Thiffault, M. Knaap, 2014, neurogenetics.

Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis.

W. Foulkes, I. Thiffault, P. gordon, 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Diversity of ARSACS Mutations in French-Canadians

A. Montpetit, I. Thiffault, B. Brais, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Clinical genome sequencing in an unbiased pediatric cohort

Neil A. Miller, E. Farrow, M. Gibson, 2018, Genetics in Medicine.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

A. Vanderver, I. Thiffault, B. Brais, 2023, Journal of Medical Genetics.

TACH Leukodystrophy: Locus Refinement to Chromosome 10q22.3-23.1

R. Schiffmann, I. Thiffault, B. Brais, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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

E. Shoubridge, I. Thiffault, M. Knaap, 2014, neurogenetics.

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families

W. Foulkes, I. Thiffault, J. Jass, 2009, Human mutation.

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

V. Chau, I. Thiffault, B. Brais, 2008, Neuromuscular Disorders.

Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli

M. Bushnell, I. Thiffault, B. Brais, 2009, The Journal of Neuroscience.

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

I. Thiffault, B. Brais, G. Rouleau, 2011, Brain : a journal of neurology.

The HNPCC associated MSH2*1906G→C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population

C. Greenwood, W. Foulkes, I. Thiffault, 2005, Journal of Medical Genetics.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, PLoS genetics.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, medRxiv.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

E. Farrow, L. Willig, C. Saunders, 2018, neurogenetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

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

E. Farrow, C. Saunders, I. Thiffault, 2016, The Journal of allergy and clinical immunology.

Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

E. Farrow, L. Willig, C. Saunders, 2018, neurogenetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq

E. Farrow, I. Thiffault, B. Koseva, 2023, American journal of medical genetics. Part A.

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

R. Schiffmann, I. Thiffault, T. Pastinen, 2023, Orphanet Journal of Rare Diseases.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

I. Thiffault, T. Pastinen, B. Brais, 2023, Frontiers in Neurology.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Antonarakis, Noskova, Meadows, 2022, medRxiv.

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration

A. Vanderver, I. Thiffault, S. Albrecht, 2022, neurogenetics.

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, Human mutation.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

I. Thiffault, C. Prasad, K. Guerrero, 2023, Frontiers in neurology.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

Orion J. Buske, Neil A. Miller, J. Korlach, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

E. Farrow, I. Thiffault, T. Pastinen, 2024, medRxiv.