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"Devolution" of bipedality

artículo científico publicado en 2008

"Matching" consent to purpose: The example of the Matchmaker Exchange.

artículo científico

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

artículo científico publicado en 2016

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) ⬇️

artículo científico publicado el 1 de junio de 2011

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting

scientific article published on 06 February 2019

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

artículo científico publicado en 2019

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

artículo científico publicado en 2018

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

artículo científico publicado en 2019

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys

scientific article published on 29 June 2018

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

artículo científico publicado en 2013

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD.

artículo científico publicado en 2003

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

artículo científico publicado en 2018

A generalizable pre-clinical research approach for orphan disease therapy

artículo científico

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

artículo científico publicado en 2010

A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism

artículo científico publicado en 2009

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene

artículo científico publicado en 2016

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F

artículo científico publicado en 2019

A recurrent PDGFRB mutation causes familial infantile myofibromatosis

artículo científico publicado en 2013

Addressing challenges in the diagnosis and treatment of rare genetic diseases

artículo científico publicado en 2017

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

artículo científico publicado en 2012

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

artículo científico publicado en 2020

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Assessing non-Mendelian inheritance in inherited axonopathies

artículo científico publicado en 2020

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

artículo científico publicado en 2018

Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting

artículo científico publicado en 2013

Attitudes of parents toward the return of targeted and incidental genomic research findings in children

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing

artículo científico publicado en 2015

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

artículo científico publicado en 2017

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

artículo científico publicado en 2015

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

artículo científico publicado en 2015

Autosomal recessive cerebellar hypoplasia in the Hutterite population

artículo científico publicado en 2005

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

artículo científico publicado en 2015

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

artículo científico

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

scientific article published in Nature Communications

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

artículo científico publicado en 2011

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

artículo científico publicado en 2017

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects ⬇️

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

artículo científico publicado en 2014

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

artículo científico publicado en 2008

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

artículo científico publicado en 2020

Clinical and genetic study of hereditary spastic paraplegia in Canada

artículo científico publicado en 2016

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature

artículo científico publicado en 2019

Clinical expression of developmental coordination disorder in a large Canadian family

artículo científico publicado en 2008

Clinical genetics and the Hutterite population: a review of Mendelian disorders

artículo científico publicado en 2008

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

artículo científico publicado en 2008

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

artículo científico publicado en 2014

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care

artículo científico publicado en 2016

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

artículo científico publicado en 2014

Consent Codes: Upholding Standard Data Use Conditions

artículo científico publicado en 2016

Correction: The value of diagnostic testing for parents of children with rare genetic diseases

scientific article published on 01 November 2019

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

artículo científico publicado en 2007

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

artículo científico publicado en 2015

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

artículo científico publicado en 2014

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ⬇️

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

artículo científico publicado en 2012

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

artículo científico publicado en 2017

Deletion of filamin A in two female patients with periventricular nodular heterotopia

Deletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies

artículo científico publicado en 2014

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

artículo científico publicado en 2016

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

scientific article published on 01 July 2018

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases

artículo científico publicado en 2018

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature

artículo científico publicado en 2020

Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome

scientific article published on 17 June 2020

Evaluation of exome filtering techniques for the analysis of clinically relevant genes

artículo científico publicado en 2017

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

artículo científico publicado en 2014

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

artículo científico publicado en 2017

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

artículo científico publicado en 2014

Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula

artículo científico publicado en 2007

Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment

artículo científico publicado en 2009

Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation ⬇️

artículo científico publicado el 19 de noviembre de 2012

Fragile X testing as a second-tier test

artículo científico publicado en 2017

Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Germline AGO2 mutations impair RNA interference and human neurological development

artículo científico publicado en 2020

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

artículo científico publicado en 2017

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

artículo científico publicado en 2012

Hepatic Adenomas Caused by Somatic HNF1A Mutations in Children With Biallelic Mismatch Repair Gene Mutations ⬇️

artículo científico publicado el 21 de diciembre de 2010

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient

artículo científico publicado en 2009

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

artículo científico publicado en 2005

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

scientific journal article

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

scientific article published on 17 June 2015

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

artículo científico publicado en 2014

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

artículo científico publicado en 2015

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

artículo científico publicado en 2016

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

artículo científico publicado en 2017

Identification of genes for childhood heritable diseases

artículo científico publicado en 2014

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

article

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

artículo científico publicado en 2019

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

artículo científico publicado en 2017

Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature

artículo científico publicado en 2018

Intellectual disability associated with a homozygous missense mutation in THOC6

artículo científico publicado en 2013

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

artículo científico publicado en 2019

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

scientific article published on 27 April 2019

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders

artículo científico publicado en 2018

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

artículo científico publicado en 2015

Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants

artículo científico publicado en 2013

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

artículo científico publicado en 2015

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

artículo científico publicado en 2016

Looking for a needle in a haystack--tackling rare diseases: an interview with Kym Boycott

artículo científico publicado en 2015

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

scientific article published on 13 November 2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

artículo científico publicado en 2017

MEK inhibition in BRAF-mutated melanoma.

artículo científico publicado en 2012

MG-109 Revisiting a clinical diagnosis 15 years later with the aid of whole exome sequencing: Osteopetrosis versus harderophorphyria

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

artículo científico publicado en 2015

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

artículo científico publicado en 2015

Matchmaker Exchange

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

artículo científico publicado en 2007

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

artículo científico publicado en 2014

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

artículo científico publicado en 2013

Microcephaly-Capillary Malformation Syndrome

scientific article published in December 2013

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

artículo científico publicado en 2012

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

artículo científico publicado en 2017

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

artículo científico publicado en 2016

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

artículo científico publicado en 2018

Mutation of POC1B in a severe syndromic retinal ciliopathy

artículo científico publicado en 2014

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

artículo científico publicado en 2013

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

artículo científico publicado en 2012

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

artículo científico publicado en 2013

Mutations in EZH2 cause Weaver syndrome

artículo científico publicado en 2011

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

artículo científico publicado en 2016

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

artículo científico publicado en 2014

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

artículo científico publicado en 2011

Mutations in PIK3R1 cause SHORT syndrome

artículo científico publicado en 2013

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

artículo científico publicado en 2012

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

artículo científico publicado en 2013

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

artículo científico publicado en 2011

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

artículo científico publicado en 2009

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

artículo científico publicado en 2018

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

artículo científico publicado en 2014

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

artículo científico publicado en 2012

Nablus syndrome: Easy to diagnose yet difficult to solve

scientific article published on 01 December 2018

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

artículo científico publicado en 2014

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

scientific article published on 05 March 2019

Neuropathologic features of pontocerebellar hypoplasia type 6.

artículo científico publicado en 2014

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

scientific article published on 13 April 2020

Next Generation Diagnostics for Rare Neurological Diseases: The Future is Here

artículo científico publicado en 2014

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

artículo científico publicado en 2016

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

artículo científico publicado en 2017

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

artículo científico publicado en 2018

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

artículo científico publicado en 2014

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

artículo científico publicado en 2021

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

artículo científico publicado en 2019

PhenoTips: Patient Phenotyping Software for Clinical and Research Use ⬇️

artículo científico publicado el 24 de mayo de 2013

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

artículo científico publicado en 2015

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

artículo científico publicado en 2019

Phenotype delineation of ZNF462 related syndrome

scientific article published on 30 July 2019

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

artículo científico publicado en 2009

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

artículo científico publicado en 2017

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

artículo científico publicado en 2017

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

artículo científico

Recent advances in the genetic etiology of brain malformations

artículo científico

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

artículo científico publicado en 2015

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

artículo científico publicado en 2013

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

artículo científico publicado en 2010

Registered access: authorizing data access

artículo científico publicado en 2018

Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

artículo científico publicado en 2013

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE

article published in 2015

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

artículo científico publicado en 2015

Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases

artículo científico publicado en 2013

Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees.

artículo científico publicado en 2010

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

artículo científico publicado en 2017

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

artículo científico publicado en 2015

SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder

artículo científico publicado en 2020

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

artículo científico publicado en 2015

Searching for secondary findings: considering actionability and preserving the right not to know

scientific article published on 11 June 2019

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

artículo científico publicado en 2015

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

artículo científico publicado en 2012

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

artículo científico publicado en 2017

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

artículo científico publicado en 2016

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

artículo científico publicado en 2018

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

artículo científico publicado en 2020

The Deep Genome Project

scientific article published on 03 February 2020

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

artículo científico publicado en 2017

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

artículo científico publicado en 2015

The defining DNA methylation signature of Floating-Harbor Syndrome

artículo científico publicado en 2016

The future is now for rare genetic diseases ⬇️

artículo científico publicado el 2 de octubre de 2012

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®

article

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

artículo científico publicado en 2014

The value of diagnostic testing for parents of children with rare genetic diseases

scientific article published on 26 June 2019

Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases

artículo científico publicado en 2013

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Understanding rare disease pathogenesis: a grand challenge for model organisms

artículo científico publicado en 2014

Unsolved recognizable patterns of human malformation: Challenges and opportunities

artículo científico publicado en 2018

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

artículo científico publicado en 2012

Very late-onset Sandhoff disease presenting as Kennedy disease

artículo científico publicado en 2015

When One Diagnosis Is Not Enough

artículo científico publicado en 2016

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families

artículo científico publicado en 2020

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

artículo científico publicado en 2015

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

artículo científico publicado en 2015

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

artículo científico publicado en 2014

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

artículo científico publicado en 2017

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

artículo científico publicado en 2017

Yunis-Varón syndrome caused by biallelic VAC14 mutations

artículo científico publicado en 2017

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy

artículo científico publicado en 2019

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