Makrythanasis, Periklis | Archive ouverte UNIGE

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Title	Published in	Year	Views	Downloads

International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts	Orphanet journal of rare diseases	2022	127	188
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency	Human Molecular Genetics	2020	423	1
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy	American Journal of Human Genetics	2020	278	0
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder	Neuropediatrics	2018	599	2
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay	Genetics in Medicine	2018	590	395
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics	2018	86	183
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother	Journal of Human Genetics	2018	470	606
Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors	The Journal of Pathology	2017	691	2
Defining categories of actionability for secondary findings in next-generation sequencing	Journal of medical ethics	2017	630	0
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	American journal of human genetics	2016	665	580
Research of pathogenic mutations in the human genome through the study of consanguineous families		2016	499	4
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Human genomics	2016	566	372
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy	American journal of human genetics	2016	711	319
Choking Fits During Sleep Related to Epilepsy	The American journal of medicine	2016	590	1
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics	2016	756	371
CATCHing putative causative variants in consanguineous families	BMC bioinformatics	2015	634	227
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis	Sexual development	2015	768	0
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders	Genome research	2015	562	2
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	PloS one	2015	675	481
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	PLOS genetics	2015	738	355
Next generation diagnostics on cardiomyopathy	Molecular cytogenetics	2014	689	228
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders	Clinical genetics	2014	759	0
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Human mutation	2014	711	4
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Genome research	2014	679	0
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations	Orphanet journal of rare diseases	2014	637	209
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling	PLOS genetics	2014	737	347
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report	BMC medical genetics	2014	577	244
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly	Human mutation	2014	694	4
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy	Neurology	2014	721	711
Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nature communications	2014	783	301
Analysis of the Born in Bradford birth cohort	Lancet	2014	771	4
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia	Bone	2014	628	0
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome	Genome research	2013	759	758
Passive and active DNA methylation and the interplay with genetic variation in gene regulation	eLife	2013	787	563
Pathogenic variants in non-protein-coding sequences	Clinical genetics	2013	592	0
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia	American journal of human genetics	2013	597	0
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study	Clinical genetics	2013	690	2
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?	European journal of medical genetics	2012	693	0
High-throughput sequencing and rare genetic diseases	Molecular syndromology	2012	641	340
From sequence to functional understanding: the difficult road ahead	Genome medicine	2011	630	184
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia	European journal of medical genetics	2011	739	0
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features	Clinical genetics	2010	695	0
Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion	Pediatric and developmental pathology	2010	735	0
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls	Human mutation	2009	490	0
Efficient targeted transcript discovery via array-based normalization of RACE libraries	Nature methods	2008	709	553