Gerarda Cappuccio to Humans
This is a "connection" page, showing publications Gerarda Cappuccio has written about Humans.
Connection Strength
0.686
-
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder. Am J Med Genet A. 2022 10; 188(10):3032-3040.
Score: 0.022
-
Biallelic variants in CENPF causing a phenotype distinct from Str?mme syndrome. Am J Med Genet C Semin Med Genet. 2022 03; 190(1):102-108.
Score: 0.022
-
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
Score: 0.021
-
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Hum Mutat. 2021 06; 42(6):745-761.
Score: 0.020
-
A pilot clinical trial with losartan in Myhre syndrome. Am J Med Genet A. 2021 03; 185(3):702-709.
Score: 0.020
-
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Genet Med. 2020 11; 22(11):1838-1850.
Score: 0.019
-
A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
Score: 0.019
-
Long-term follow-up of an individual with ITPR1-related disorder. Am J Med Genet A. 2020 07; 182(7):1846-1847.
Score: 0.019
-
Expansion of the phenotype of lateral meningocele syndrome. Am J Med Genet A. 2020 05; 182(5):1259-1262.
Score: 0.019
-
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder. Eur J Hum Genet. 2019 09; 27(9):1475-1480.
Score: 0.018
-
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. Mol Genet Genomic Med. 2019 06; 7(6):e708.
Score: 0.018
-
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Mol Genet Genomic Med. 2019 06; 7(6):e682.
Score: 0.018
-
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019 05; 42(3):509-518.
Score: 0.018
-
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. Acta Paediatr. 2019 01; 108(1):171-172.
Score: 0.017
-
An extremely severe phenotype attributed to WDR81 nonsense mutations. Ann Neurol. 2017 10; 82(4):650-651.
Score: 0.016
-
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PLoS One. 2017; 12(9):e0184022.
Score: 0.016
-
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder. Eur J Med Genet. 2017 Dec; 60(12):655-657.
Score: 0.016
-
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation. Am J Med Genet A. 2017 Oct; 173(10):2743-2746.
Score: 0.016
-
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr. 2016 Apr 12; 42:39.
Score: 0.014
-
Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.013
-
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. BMC Med Genet. 2014 Jan 28; 15:15.
Score: 0.012
-
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A. 2014 Mar; 164A(3):753-9.
Score: 0.012
-
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2014 Jan; 164A(1):182-5.
Score: 0.012
-
Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome? Eur J Med Genet. 2012 Dec; 55(12):705-7.
Score: 0.011
-
Molecular Imaging of Human Brain Organoids Using Mass Spectrometry. J Vis Exp. 2024 Sep 27; (211).
Score: 0.006
-
Dominantly acting variants in?ATP6V1C1?and?ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. HGG Adv. 2024 Oct 10; 5(4):100349.
Score: 0.006
-
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nat Commun. 2024 Aug 06; 15(1):6524.
Score: 0.006
-
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625.
Score: 0.006
-
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. Am J Med Genet A. 2024 Nov; 194(11):e63713.
Score: 0.006
-
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Am J Med Genet C Semin Med Genet. 2024 Dec; 196(4):e32089.
Score: 0.006
-
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go. Stem Cell Reports. 2024 Jun 11; 19(6):796-816.
Score: 0.006
-
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study. Brain. 2024 May 03; 147(5):1653-1666.
Score: 0.006
-
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cell Mol Life Sci. 2024 Mar 28; 81(1):153.
Score: 0.006
-
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders. J Clin Invest. 2024 Jan 16; 134(2).
Score: 0.006
-
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome. Stem Cell Res. 2024 02; 74:103292.
Score: 0.006
-
Antibody Deficiency in Patients with Biallelic KARS1 Mutations. J Clin Immunol. 2023 11; 43(8):2115-2125.
Score: 0.006
-
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clin Genet. 2023 08; 104(2):186-197.
Score: 0.006
-
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. Cell Mol Life Sci. 2023 Mar 31; 80(4):110.
Score: 0.006
-
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023 02 23; 14(1):1009.
Score: 0.006
-
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 11; 43(11):1609-1628.
Score: 0.006
-
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review. Birth Defects Res. 2022 08 01; 114(13):759-767.
Score: 0.006
-
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant. Eur J Med Genet. 2022 May; 65(5):104500.
Score: 0.005
-
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. 2023 02; 60(2):163-173.
Score: 0.005
-
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab. 2022 02 17; 107(3):e1136-e1147.
Score: 0.005
-
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Am J Med Genet A. 2022 05; 188(5):1497-1514.
Score: 0.005
-
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445.
Score: 0.005
-
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. Eur J Med Genet. 2022 Jan; 65(1):104380.
Score: 0.005
-
ZTTK syndrome: Clinical and molecular findings of?15 cases and a review of the literature. Am J Med Genet A. 2021 12; 185(12):3740-3753.
Score: 0.005
-
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature. Eur J Pediatr. 2022 Jan; 181(1):171-187.
Score: 0.005
-
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. J Med Genet. 2022 05; 59(5):511-516.
Score: 0.005
-
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
Score: 0.005
-
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
Score: 0.005
-
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
Score: 0.005
-
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series. J Clin Endocrinol Metab. 2021 01 23; 106(2):539-553.
Score: 0.005
-
Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 01 07; 108(1):100-114.
Score: 0.005
-
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21.
Score: 0.005
-
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 10 01; 11(1):4932.
Score: 0.005
-
Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950.
Score: 0.005
-
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260.
Score: 0.005
-
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum Mutat. 2020 10; 41(10):1761-1774.
Score: 0.005
-
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. 2020 07; 8(7):594-605.
Score: 0.005
-
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020 08; 98(2):172-178.
Score: 0.005
-
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Clin Genet. 2020 06; 97(6):940-942.
Score: 0.005
-
Two cases of 16q12.1q21 deletions and refinement of the critical region. Eur J Med Genet. 2020 Jun; 63(6):103878.
Score: 0.005
-
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Ann Clin Transl Neurol. 2020 01; 7(1):83-93.
Score: 0.005
-
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705.
Score: 0.005
-
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Am J Hum Genet. 2019 08 01; 105(2):283-301.
Score: 0.005
-
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.005
-
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. Eur J Hum Genet. 2019 08; 27(8):1254-1259.
Score: 0.004
-
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency. Acta Paediatr. 2019 03; 108(3):564-565.
Score: 0.004
-
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Am J Med Genet A. 2018 02; 176(2):426-430.
Score: 0.004
-
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. Eur J Hum Genet. 2016 08; 24(9):1359-62.
Score: 0.004
-
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. J Peripher Nerv Syst. 2015 Dec; 20(4):415-8.
Score: 0.004
-
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. Gene. 2014 Mar 15; 538(1):69-73.
Score: 0.003
-
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014 Jan; 164A(1):190-3.
Score: 0.003
-
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Ital J Pediatr. 2012 Nov 16; 38:65.
Score: 0.003
-
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. Am J Med Genet A. 2012 Apr; 158A(4):832-5.
Score: 0.003
-
Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype. Epigenetics. 2011 Oct 01; 6(10):1242-7.
Score: 0.003
-
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22. Am J Med Genet A. 2011 Jul; 155A(7):1697-705.
Score: 0.003