135 novel disease genes discovered since 2011


recent publication highlights:

Publication Tally

For a sample of the most recent Care4Rare publications please visit here.

For a comprehensive list of publications, see below.


Watch Dr. Boycott and Dr. Sawyer discuss one of our papers describing patients with ataxia (a movement disorder):

Full list of publications:

1.Majewski et al., Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome. Human mutation, 2011

2.Bernier et al., Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. AJHG, 2012

3.Doherty et al., GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. AJHG, 2012

4.Fernandez et al., Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. BMC medical genetics, 2012

5.Gibson et al., Mutations in EZH2 cause Weaver syndrome. AJHG, 2012

6.Hood et al., Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. AJHG, 2012

7.Koenekoop et al., Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nature genetics, 2012

8.Lines et al., Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. AJHG, 2012

9.McMillan et al., Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet journal of rare diseases, 2012

10.Rivière et al., De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature genetics, 2012

11.Schuurs-Hoeijmakers et al., Mutations in DDHD2, encoding an intracellular phospholipase A 1, cause a recessive form of complex hereditary spastic paraplegia. AJHG, 2012

12.Srour et al., Mutations in TMEM231 cause Joubert syndrome in French Canadians. JMG, 2012

13.Srour et al., Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. AJHG, 2012

14.Beaulieu et al., Intellectual disability associated with a homozygous missense mutation in THOC6. OJRD, 2013

15.Berryer et al., Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Human mutation, 2013

16.Boycott et al., Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nature Reviews Genetics, 2013

17.Cheung et al., A recurrent PDGFRB mutation causes familial infantile myofibromatosis. AJHG, 2013

18.Dyment et al., Mutations in PIK3R1 cause SHORT syndrome. AJHG, 2013

19.Fernandez et al., Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting. Genetics in Medicine, 2013

20.Girdea et al., PhenoTips: patient phenotyping software for clinical and research use. Human mutation, 2013

21.Lynch et al., Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Human mutation, 2013

22.Majewski et al., Expanding the phenotypic spectrum of nicotinamide nucleotide transhydrogenase (NNT) mutations and using whole exome sequencing to discover potential disease modifiers. Journal of Genomes and Exomes, 2013

23.Marcadier et al., Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. OJRD, 2013

24.McDonell et al., Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature genetics, 2013

25.Moffatt et al., Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. AJHG, 2013

26.Nikkel et al., The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. OJRD, 2013

27.Samuels et al., Bioinactive ACTH causing glucocorticoid deficiency. The Journal of Clinical Endocrinology & Metabolism, 2013

28.Samuels et al., Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. JMG, 2013

29.Shi et al., FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics, 2013

30.Aldinger et al., Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. AJHG, 2014

31.Beaulieu et al., FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. AJHG, 2014

32.Brue et al., Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC medical genetics, 2014

33.Chetaille et al., Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nature genetics, 2014

34.Demos et al., A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet journal of rare diseases, 2014

35.Enns et al., Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine, 2014

36.Farhan et al., Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia, 2014

37.Farhan et al., Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency. Molecular genetics & genomic medicine, 2014

38.Fernandez et al., Attitudes of parents toward the return of targeted and incidental genomic research findings in children. Genetics in Medicine, 2014

39.Greenway et al., Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. Canadian Journal of Cardiology, 2014

40.Joseph et al., Neuropathologic features of pontocerebellar hypoplasia type 6. Journal of Neuropathology & Experimental Neurology, 2014

41.Kleiderman et al., Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases. Journal of medical ethics, 2014

42.Lynch et al., Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome. Nature communications, 2014

43.McDonell et al., The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome. BMC neurology, 2014

44.McMillan et al., Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. BMC medical genetics, 2014

45.Mirzaa et al., De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature genetics, 2014

46.Sawyer et al., Exome sequencing as a diagnostic tool for pediatric‐onset ataxia. Human mutation, 2014

47.Smith et al., Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. JMG, 2014

48.Srour et al., Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. Muscle & nerve, 2014

49.Venkateswaran et al., Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Epilepsia, 2014

50.Vincent et al., OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. JMG, 2014

51.Al-Maawali et al., Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. EJHG, 2015

52.Al-Shahoumi et al., Two cases of congenital myasthenic syndrome with vocal cord paralysis. Neurology, 2015

53.Au et al., GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK. Human mutation, 2015

54.Boycott et al., The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. JMG, 2015

55.Boycott et al., Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8. AJHG, 2015

56.Buske et al., The matchmaker exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles. Human mutation, 2015

57.Chardon et al., LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clinical genetics, 2015

58.Choquet et al., SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. EJHG, 2015

59.Dyment et al., Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clinical genetics, 2015

60.Dyment et al., Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. Neurobiology of aging, 2015

61.Faden et al., Identification of a recognizable progressive skeletal dysplasia caused by RSPRY1 mutations.AJHG, 2015

62.Farhan et al., Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. JMG, 2015

63.Frosk et al., A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. BMC medical genetics, 2015

64.Kernohan et al., Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature, and intellectual disability. Human molecular genetics, 2015

65.Kmoch et al., Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature communications, 2015

66.Lee et al., De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Human mutation, 2015

67.Liu et al., Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing. AJMG, 2015

68.Loucks et al., Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Human mutation, 2015

69.Marshall et al., Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia. G3: Genes| Genomes| Genetics, 2015

70.McDonell et al., Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin. Human molecular genetics, 2015

71.McMillan et al., 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. Journal of child neurology, 2015

72.Mendoza-Londono et al., Recessive osteogenesis imperfecta caused by missense mutations in SPARC. AJHG, 2015

73.Noreau et al., Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. neurogenetics, 2015

74.Richer et al., Resolution of refractory hypotension and anuria in a premature newborn with loss‐of‐function of ACE. AJMG, 2015

75.Roifman et al., De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clinical genetics, 2015

76.Sawyer et al., Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. HMG, 2015

77.Sawyer et al., Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer discovery, 2015

78.Schwartzentruber et al., Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Human Mutation, 2015

79.Shamseldin et al., RTTN mutations cause primary microcephaly and primordial Dwarfism in humans. AJHG, 2015

80.Smith et al., Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. EJHG, 2015

81.Srour et al., Joubert syndrome in French Canadians and identification of mutations in CEP104. AJHG,2015

82.Tetreault et al., Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Human genetics, 2015

83.Vanstone et al., DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. EJHG, 2015

84.Wagner et al., Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2. Neuromuscular Disorders, 2015

85.Xi et al., Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. International journal of cardiology, 2015

86.Amos et al., Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Clinical genetics, 2016

87.Armour et al., Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events. AJMG, 2016

88.Bennett et al., Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. The American Journal of Human Genetics, 2016

89.Brodehl et al., Mutations in FLNC are associated with familial restrictive cardiomyopathy. Human mutation, 2016

90.Daoud et al., Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. Canadian Medical Association Journal, 2016

91.Ejaz et al., Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. AJMG, 2016

92.Ferreira et al., Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings. Neurology Genetics, 2016

93.Hamilton et al., Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care. Molecular Genetics & Genomic Medicine, 2016

94.Hood et al., Severe connective tissue laxity including aortic dilatation in Sotos syndrome. AJMG , 2016

95.Huang et al., Mandibulofacial dysostosis with microcephaly: Mutation and database update. Human mutation, 2016

96.Narravula et al., Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. Genetics in Medicine, 2016

97.Sawyer et al., Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical genetics, 2016

98.Shao et al., Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. neurogenetics, 2016

99.Smith et al., Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 2016

100.Stray-Pedersen et al., Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability. AJHG, 2016

101.Yoon et al., Lethal disorder of mitochondrial fission caused by mutations in DNM1L. The Journal of pediatrics, 2016