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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, [...] Laurie S
NPJ Genom Med, 9(1):49, 26 Oct 2024
Cited by: 0 articles | PMID: 39461972 | PMCID: PMC11513043
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Epi25 Collaborative
Nat Neurosci, 27(10):1864-1879, 03 Oct 2024
Cited by: 0 articles | PMID: 39363051
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The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Mammi A, Geroldi A, Patrone S, Gotta F, Origone P, Gaudio A, La Barbera A, Sanguineri F, Ponti C, Iacomino M, Traverso M, Ferlazzo E, Schenone A, Pascarella A, Marsico O, Mandich P, Bellone E
J Peripher Nerv Syst, 29(2):279-285, 14 Jun 2024
Cited by: 0 articles | PMID: 38874107
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, [...] Kindler S
Am J Hum Genet, 111(6):1206-1221, 20 May 2024
Cited by: 0 articles | PMID: 38772379 | PMCID: PMC11179411
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, [...] Reymond A
Genome Med, 16(1):72, 30 May 2024
Cited by: 0 articles | PMID: 38811945 | PMCID: PMC11137988
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Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, [...] Salpietro V
Front Mol Neurosci, 17:1268013, 08 Apr 2024
Cited by: 0 articles | PMID: 38650658 | PMCID: PMC11033462
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De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, [...] Zara F
Am J Hum Genet, 111(3):529-543, 21 Feb 2024
Cited by: 0 articles | PMID: 38387458 | PMCID: PMC10940048
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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M
Eur J Hum Genet, 32(3):342-349, 04 Jan 2024
Cited by: 1 article | PMID: 38177406
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, [...] Hakonarson H
J Clin Invest, 134(1):e171235, 02 Jan 2024
Cited by: 6 articles | PMID: 37962958 | PMCID: PMC10760965
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Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump J, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LE, [...] Reymond A
medRxiv, 17 Jan 2024
Cited by: 0 articles | PPR: PPR788437
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Neuroimaging features of WOREE syndrome: a mini-review of the literature.
Battaglia L, Scorrano G, Spiaggia R, Basile A, Palmucci S, Foti PV, Spatola C, Iacomino M, Marinangeli F, Francia E, Comisi F, Corsello A, Salpietro V, Vittori A, David E
Front Pediatr, 11:1301166, 15 Dec 2023
Cited by: 0 articles | PMID: 38161429 | PMCID: PMC10757851
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An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, [...] Solve-RD consortium
Gigascience, 13:giae058, 01 Jan 2024
Cited by: 0 articles | PMID: 39302238 | PMCID: PMC11413801
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, [...] Houlden H
Am J Hum Genet, 111(1):200-210, 20 Dec 2023
Cited by: 0 articles | PMID: 38118446 | PMCID: PMC10806450
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Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, [...] Sisodiya SM
Epilepsia, 65(3):779-791, 23 Dec 2023
Cited by: 2 articles | PMID: 38088023
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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Scorrano G, D'Onofrio G, Accogli A, Severino M, Buchert R, Kotzaeridou U, Iapadre G, Farello G, Iacomino M, Dono F, Di Francesco L, Fiorile MF, La Bella S, Corsello A, Calì E, Di Rosa G, Gitto E, Verrotti A, Fortuna S, [...] Salpietro V
Pediatr Neurol, 149:84-92, 16 Sep 2023
Cited by: 1 article | PMID: 37820543
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
International League Against Epilepsy Consortium on Complex Epilepsies
Nat Genet, 55(9):1471-1482, 31 Aug 2023
Cited by: 32 articles | PMID: 37653029 | PMCID: PMC10484785
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Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Dainelli A, Iacomino M, Rossato S, Bugin S, Traverso M, Severino M, Gustincich S, Capra V, Di Duca M, Zara F, Scala M, Striano P
Epilepsia Open, 8(4):1314-1330, 01 Sep 2023
Cited by: 3 articles | PMID: 37491868 | PMCID: PMC10690669
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M, Epi25 Collaborative, Helbig I, Leu C, Lal D
Nat Commun, 14(1):4392, 20 Jul 2023
Cited by: 8 articles | PMID: 37474567 | PMCID: PMC10359300
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BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, [...] Piard J
Eur J Hum Genet, 31(9):1023-1031, 21 Jun 2023
Cited by: 2 articles | PMID: 37344571 | PMCID: PMC10474045
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Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
Riva A, Iacomino M, Piccardo C, Franceschetti L, Franchini R, Baroni A, Minetti C, Bisello G, Zara F, Scala M, Striano P, Bertoldi M
Biochem Biophys Res Commun, 673:131-136, 19 Jun 2023
Cited by: 3 articles | PMID: 37385007
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Novel biallelic variants expand the phenotype of NAA20-related syndrome.
D'Onofrio G, Cuccurullo C, Larsen SK, Severino M, D'Amico A, Brønstad K, AlOwain M, Morrison JL, Wheeler PG, Webb BD, Alfalah A, Iacomino M, Uva P, Coppola A, Merla G, Salpietro VD, Zara F, Striano P, Accogli A, [...] Bilo L
Clin Genet, 104(3):371-376, 16 May 2023
Cited by: 1 article | PMID: 37191084
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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, [...] Nagy V
Hum Genet, 142(7):909-925, 14 May 2023
Cited by: 4 articles | PMID: 37183190 | PMCID: PMC10329570
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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, [...] De Marco P
Cancers (Basel), 15(6):1916, 22 Mar 2023
Cited by: 3 articles | PMID: 36980803 | PMCID: PMC10047491
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C, Solve-RD consortium
Hum Genomics, 17(1):39, 03 May 2023
Cited by: 4 articles | PMID: 37138343 | PMCID: PMC10155375
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Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G, Scala M, Severino M, Roberti R, Romano F, De Marco P, Iacomino M, Baldassari S, Uva P, Pavanello M, Gustincich S, Striano P, Zara F, Capra V
Eur J Hum Genet, 31(7):725-729, 28 Mar 2023
Cited by: 1 article | PMID: 36977836
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1-25 of 110 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.

De novo variants in DENND5B cause a neurodevelopmental disorder.

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles

Neuroimaging features of WOREE syndrome: a mini-review of the literature.

An interconnected data infrastructure to support large-scale rare disease research.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.

Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.

Novel biallelic variants expand the phenotype of NAA20-related syndrome.

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Expanding the phenotype associated with biallelic SLC20A2 variants.

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