CARLOS BACINO to Humans
This is a "connection" page, showing publications CARLOS BACINO has written about Humans.
Connection Strength
0.794
-
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nat Commun. 2020 05 15; 11(1):2441.
Score: 0.017
-
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. Am J Med Genet A. 2016 11; 170(11):3028-3032.
Score: 0.013
-
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 10; 170(10):2540-50.
Score: 0.013
-
5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease. Am J Med Genet A. 2016 Mar; 170(3):688-93.
Score: 0.013
-
Etiopathogenesis of equinovarus foot malformations. Eur J Med Genet. 2014 Aug; 57(8):473-9.
Score: 0.011
-
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24.
Score: 0.010
-
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am J Med Genet A. 2012 Oct; 158A(10):2557-63.
Score: 0.010
-
WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar; 158A(3):622-5.
Score: 0.010
-
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001.
Score: 0.009
-
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A. 2010 Jul; 152A(7):1825-31.
Score: 0.009
-
Introductory comments on special section-genomic microduplications: When adding may equal subtracting. Am J Med Genet A. 2010 May; 152A(5):1063-5.
Score: 0.009
-
Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am J Med Genet A. 2010 May; 152A(5):1066-78.
Score: 0.009
-
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am J Med Genet A. 2009 Dec; 149A(12):2723-30.
Score: 0.008
-
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep; 149A(9):1916-21.
Score: 0.008
-
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 Nov 01; 146A(21):2804-9.
Score: 0.008
-
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
Score: 0.007
-
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A. 2007 Apr 15; 143A(8):791-8.
Score: 0.007
-
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies. J Gen Physiol. 2026 Sep 07; 158(5).
Score: 0.007
-
Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation. Am J Med Genet A. 2006 Jun 01; 140(11):1156-63.
Score: 0.007
-
Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial. JAMA Pediatr. 2026 Jan 01; 180(1):18-25.
Score: 0.006
-
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J Med Genet. 2006 Jun; 43(6):512-6.
Score: 0.006
-
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial. Nat Med. 2025 Sep; 31(9):2936-2945.
Score: 0.006
-
Genetic and environmental factors influencing fasting serum adiponectin in Hispanic children. J Clin Endocrinol Metab. 2005 Jul; 90(7):4170-6.
Score: 0.006
-
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369.
Score: 0.006
-
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage. Clin Chem. 2025 Jan 03; 71(1):141-154.
Score: 0.006
-
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study. Med. 2025 05 09; 6(5):100566.
Score: 0.006
-
Autism in Angelman syndrome: implications for autism research. Clin Genet. 2004 Dec; 66(6):530-6.
Score: 0.006
-
Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. Am J Med Genet A. 2004 Nov 01; 130A(4):439-40.
Score: 0.006
-
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 10 24; 391(16):1511-1518.
Score: 0.006
-
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life. Genet Med. 2024 12; 26(12):101274.
Score: 0.006
-
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 01; 197(1):e63868.
Score: 0.006
-
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2025 01; 197(1):e63849.
Score: 0.006
-
Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A. 2004 Jul 15; 128A(2):110-3.
Score: 0.006
-
Developmental milestones and daily living skills in individuals with Angelman syndrome. J Neurodev Disord. 2024 Jun 15; 16(1):32.
Score: 0.006
-
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model. Clin Pharmacokinet. 2024 05; 63(5):707-719.
Score: 0.006
-
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 05 02; 111(5):841-862.
Score: 0.006
-
Re: clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly. Am J Med Genet A. 2004 Apr 01; 126A(1):109; author reply 110.
Score: 0.006
-
Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.006
-
A case of familial isolated hemihyperplasia. BMC Med Genet. 2004 Feb 02; 5:1.
Score: 0.006
-
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
Score: 0.006
-
Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion. J Pediatr Endocrinol Metab. 2024 Jan 29; 37(1):84-89.
Score: 0.006
-
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Child Adolesc Health. 2024 01; 8(1):40-50.
Score: 0.005
-
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30.
Score: 0.005
-
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023 07 26; 15(1):22.
Score: 0.005
-
Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome. Am J Med Genet A. 2003 Jun 01; 119A(2):234-7.
Score: 0.005
-
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 07; 25(7):100835.
Score: 0.005
-
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. Proc Natl Acad Sci U S A. 2023 01 24; 120(4):e2209964120.
Score: 0.005
-
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 2022 10 06; 109(10):1932-1943.
Score: 0.005
-
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 12; 188(12):3492-3504.
Score: 0.005
-
Growth parameters in children with achondroplasia: A?7-year, prospective, multinational, observational study. Genet Med. 2022 12; 24(12):2444-2452.
Score: 0.005
-
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703.
Score: 0.005
-
Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet. 2002 May 15; 109(4):311-7.
Score: 0.005
-
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.
Score: 0.005
-
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.005
-
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874.
Score: 0.005
-
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843.
Score: 0.005
-
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470.
Score: 0.005
-
Anxiety in Angelman Syndrome. Am J Intellect Dev Disabil. 2022 01 01; 127(1):1-10.
Score: 0.005
-
Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia. Sci Rep. 2021 12 20; 11(1):24278.
Score: 0.005
-
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genet Med. 2022 01; 24(1):179-191.
Score: 0.005
-
Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia. Clin Pharmacokinet. 2022 02; 61(2):263-280.
Score: 0.005
-
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genet Med. 2021 12; 23(12):2443-2447.
Score: 0.005
-
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37.
Score: 0.005
-
Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2.
Score: 0.005
-
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63.
Score: 0.005
-
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).
Score: 0.004
-
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.
Score: 0.004
-
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. Am J Med Genet. 2000 Sep 11; 94(2):102-12.
Score: 0.004
-
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020 09 05; 396(10252):684-692.
Score: 0.004
-
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754.
Score: 0.004
-
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
Score: 0.004
-
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet. 2000 Jun 05; 92(4):250-5.
Score: 0.004
-
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941.
Score: 0.004
-
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.004
-
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925.
Score: 0.004
-
Agenesis of the corpus callosum and hepatoblastoma. Am J Med Genet A. 2020 01; 182(1):224-228.
Score: 0.004
-
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232.
Score: 0.004
-
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194.
Score: 0.004
-
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.004
-
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 10; 179(10):2056-2066.
Score: 0.004
-
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect. Mol Genet Genomic Med. 2019 09; 7(9):e844.
Score: 0.004
-
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. N Engl J Med. 2019 07 04; 381(1):25-35.
Score: 0.004
-
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
Score: 0.004
-
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925.
Score: 0.004
-
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.004
-
Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart. Am J Med Genet. 1999 Jan 15; 82(2):128-31.
Score: 0.004
-
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330.
Score: 0.004
-
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656.
Score: 0.004
-
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
Score: 0.004
-
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.004
-
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud. 2018 10; 4(5).
Score: 0.004
-
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly. Eur J Med Genet. 2019 Jun; 62(6):103531.
Score: 0.004
-
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency. Neurology. 2018 09 11; 91(11):e1077-e1082.
Score: 0.004
-
The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28.
Score: 0.004
-
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.004
-
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685.
Score: 0.004
-
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.
Score: 0.004
-
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 02; 101(5):833-843.
Score: 0.004
-
A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107.
Score: 0.004
-
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.004
-
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515.
Score: 0.004
-
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.004
-
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. Eur J Hum Genet. 2017 06; 25(6):694-701.
Score: 0.003
-
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.003
-
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.003
-
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Score: 0.003
-
Severe Pancytopenia in a Premature Infant. Clin Pediatr (Phila). 2017 07; 56(8):795-797.
Score: 0.003
-
Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446.
Score: 0.003
-
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.003
-
Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype. Am J Perinatol. 2017 03; 34(4):340-348.
Score: 0.003
-
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52.
Score: 0.003
-
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
Score: 0.003
-
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.003
-
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
Score: 0.003
-
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.
Score: 0.003
-
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics. 1995 Jun; 5(3):165-72.
Score: 0.003
-
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am J Med Genet. 1995 May 08; 56(4):359-65.
Score: 0.003
-
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9.
Score: 0.003
-
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):91-4.
Score: 0.003
-
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77.
Score: 0.003
-
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015 Jan; 134(1):97-109.
Score: 0.003
-
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.
Score: 0.003
-
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82.
Score: 0.003
-
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21.
Score: 0.003
-
Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome. J Ultrasound Med. 2014 Jul; 33(7):1305-7.
Score: 0.003
-
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.003
-
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258.
Score: 0.003
-
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
Score: 0.003
-
Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability. Prenat Diagn. 1993 Nov; 13(11):1011-9.
Score: 0.003
-
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013 Dec; 161A(12):2953-63.
Score: 0.003
-
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797.
Score: 0.003
-
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.003
-
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87.
Score: 0.003
-
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.003
-
Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
Score: 0.003
-
Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9.
Score: 0.003
-
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7.
Score: 0.003
-
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. Eur J Med Genet. 2013 Feb; 56(2):108-13.
Score: 0.003
-
Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome. J Allergy Clin Immunol. 2013 Jan; 131(1):251-5.
Score: 0.003
-
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102.
Score: 0.003
-
Mutations in ADAR1 cause Aicardi-Gouti?res syndrome associated with a type I interferon signature. Nat Genet. 2012 Nov; 44(11):1243-8.
Score: 0.003
-
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
Score: 0.003
-
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1891-6.
Score: 0.002
-
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. Am J Med Genet A. 2012 Jul; 158A(7):1620-7.
Score: 0.002
-
A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1962-6.
Score: 0.002
-
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61.
Score: 0.002
-
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). Am J Med Genet A. 2011 Dec; 155A(12):3071-4.
Score: 0.002
-
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
Score: 0.002
-
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63.
Score: 0.002
-
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
Score: 0.002
-
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q. Am J Med Genet A. 2011 Jun; 155A(6):1465-8.
Score: 0.002
-
Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90.
Score: 0.002
-
Alterations in white matter pathways in Angelman syndrome. Dev Med Child Neurol. 2011 Apr; 53(4):361-7.
Score: 0.002
-
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.002
-
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.002
-
Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association. Am J Med Genet A. 2010 Nov; 152A(11):2919-23.
Score: 0.002
-
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12; 87(5):708-12.
Score: 0.002
-
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet. 2011 Feb; 19(2):152-6.
Score: 0.002
-
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601.
Score: 0.002
-
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.002
-
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010 May; 152A(5):1111-26.
Score: 0.002
-
Diagnosis of primary immunodeficiency: let your eyes do the talking. J Allergy Clin Immunol. 2009 Dec; 124(6):1363-4.e1.
Score: 0.002
-
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010 Apr; 18(4):429-35.
Score: 0.002
-
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77.
Score: 0.002
-
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33.
Score: 0.002
-
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203.
Score: 0.002
-
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15.
Score: 0.002
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
Score: 0.002
-
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8.
Score: 0.002
-
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51.
Score: 0.002
-
Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405.
Score: 0.002
-
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.
Score: 0.002
-
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct; 81(4):713-25.
Score: 0.002
-
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.
Score: 0.002
-
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9.
Score: 0.002
-
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327.
Score: 0.002
-
A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children. Obesity (Silver Spring). 2006 Sep; 14(9):1596-604.
Score: 0.002
-
Linkage analysis of circulating levels of adiponectin in Hispanic children. Int J Obes (Lond). 2007 Mar; 31(3):535-42.
Score: 0.002
-
Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul; 27(7):705-10.
Score: 0.002
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.002
-
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005 Mar 22; 64(6):1088-90.
Score: 0.002
-
A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation. Am J Med Genet A. 2005 Feb 15; 133A(1):93-8.
Score: 0.001
-
SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.001
-
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr; 76(4):572-80.
Score: 0.001
-
ATR-16 due to a de novo complex rearrangement of chromosome 16. Hemoglobin. 2005; 29(2):141-50.
Score: 0.001
-
Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation products. Am J Med Genet A. 2003 Aug 15; 121A(1):56-9.
Score: 0.001
-
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6.
Score: 0.001
-
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003 May; 72(5):1200-12.
Score: 0.001
-
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul; 3(3):153-7.
Score: 0.001
-
Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory. Am J Med Genet. 2000 Apr 24; 91(5):377-82.
Score: 0.001
-
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.
Score: 0.001
-
Caution: telomere crossing. Am J Med Genet. 1999 Nov 26; 87(3):278-80.
Score: 0.001
-
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. Am J Med Genet. 1999 Apr 23; 83(5):388-91.
Score: 0.001
-
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. Am J Med Genet. 1997 Aug 08; 71(2):189-93.
Score: 0.001
-
The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties. Am J Med Genet. 1997 Jan 20; 68(2):225-30.
Score: 0.001
-
Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr. 1993 Oct; 123(4):598-602.
Score: 0.001