VERNON SUTTON to Humans
This is a "connection" page, showing publications VERNON SUTTON has written about Humans.
Connection Strength
0.921
-
Advancements in therapeutics for inborn errors of metabolism. Curr Opin Pediatr. 2022 12 01; 34(6):559-564.
Score: 0.022
-
Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. Mol Genet Metab. 2022 01; 135(1):35-41.
Score: 0.021
-
Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management. Clin Chem. 2021 11 26; 67(12):1606-1617.
Score: 0.021
-
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 01; 182(1):38-52.
Score: 0.018
-
Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):423-431.
Score: 0.017
-
Challenges in Prenatal Treatment with Dexamethasone. Pediatr Endocrinol Rev. 2018 Sep; 16(1):186-193.
Score: 0.016
-
Newborn Screening: History, Current Status, and Future Directions. Pediatr Clin North Am. 2018 04; 65(2):389-405.
Score: 0.016
-
Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing. Curr Opin Pediatr. 2016 12; 28(6):694-699.
Score: 0.015
-
The ABMGG's response to a commentary on the decision to create a 24-month specialty of Laboratory Genetics and Genomics. Genet Med. 2017 03; 19(3):362-363.
Score: 0.015
-
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. J Hum Genet. 2016 Jul; 61(7):669-72.
Score: 0.014
-
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):9-20.
Score: 0.014
-
Genetics in the twenty-first century. Preface. Clin Perinatol. 2015 Jun; 42(2):xxi-xxii.
Score: 0.013
-
Disorders of sexual development. Clin Perinatol. 2015 Jun; 42(2):395-412, ix-x.
Score: 0.013
-
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet. 2015 Feb; 87(2):133-40.
Score: 0.012
-
Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 Jul; 112(3):205-9.
Score: 0.012
-
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Jul; 57(7):339-344.
Score: 0.012
-
Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):26-33.
Score: 0.010
-
Referring patients for a medical genetics consultation and genetic counseling. Adv Otorhinolaryngol. 2011; 70:25-27.
Score: 0.010
-
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8.
Score: 0.010
-
Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature. Am J Med Genet A. 2010 Sep; 152A(9):2335-8.
Score: 0.009
-
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: 0.009
-
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. Am J Med Genet A. 2008 Apr 15; 146A(8):1042-8.
Score: 0.008
-
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.
Score: 0.008
-
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32. Chromosome Res. 2005; 13(8):809-18.
Score: 0.007
-
Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8.
Score: 0.007
-
A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. Am J Med Genet A. 2005 Mar 01; 133A(2):209-12.
Score: 0.006
-
Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study. J Bone Miner Res. 2024 Sep 02; 39(9):1215-1228.
Score: 0.006
-
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study. Mol Genet Metab. 2024 Aug; 142(4):108519.
Score: 0.006
-
Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta. Disabil Rehabil. 2025 Feb; 47(3):709-718.
Score: 0.006
-
Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study. J Clin Psychol Med Settings. 2024 Sep; 31(3):614-627.
Score: 0.006
-
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005.
Score: 0.006
-
Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. Orthod Craniofac Res. 2024 Apr; 27(2):237-243.
Score: 0.006
-
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet. 2003 Oct; 113(5):447-51.
Score: 0.006
-
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta. J Clin Endocrinol Metab. 2023 06 16; 108(7):1787-1796.
Score: 0.006
-
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. Am J Med Genet A. 2023 09; 191(9):2267-2275.
Score: 0.006
-
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188.
Score: 0.006
-
Prenatal diagnosis of vascular anomalies. Prenat Diagn. 2023 03; 43(3):318-327.
Score: 0.006
-
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2003; 26(1):69-71.
Score: 0.006
-
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
-
Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma. Pediatr Hematol Oncol. 2023 May; 40(4):422-428.
Score: 0.005
-
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms. Am J Med Genet. 2002 Sep 15; 112(1):23-7.
Score: 0.005
-
Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP. Bone. 2022 11; 164:116516.
Score: 0.005
-
Tay-Sachs disease screening and counseling families at risk for metabolic disease. Obstet Gynecol Clin North Am. 2002 Jun; 29(2):287-96.
Score: 0.005
-
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.005
-
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.
Score: 0.005
-
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924.
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
-
Targeting TGF-? for treatment of osteogenesis imperfecta. J Clin Invest. 2022 04 01; 132(7).
Score: 0.005
-
The development and implementation of an in-service exam for medical genetics residency programs. Genet Med. 2012 May; 14(5):552-7.
Score: 0.005
-
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.005
-
A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science. 2021 08 06; 373(6555):662-673.
Score: 0.005
-
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 07 01; 4(7):e2114155.
Score: 0.005
-
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
Score: 0.005
-
Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362.
Score: 0.005
-
Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779.
Score: 0.005
-
Craniofacial phenotypes associated with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3606-3612.
Score: 0.005
-
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480.
Score: 0.005
-
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.005
-
Extremity anomalies associated with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3584-3592.
Score: 0.005
-
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3576-3583.
Score: 0.005
-
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
Score: 0.005
-
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. Am J Med Genet A. 2020 11; 182(11):2632-2640.
Score: 0.005
-
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. Am J Med Genet. 2000 Aug 28; 93(5):381-7.
Score: 0.005
-
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154.
Score: 0.005
-
Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Bone. 2020 11; 140:115547.
Score: 0.005
-
Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study. J Am Dent Assoc. 2020 Jul; 151(7):480-490.e2.
Score: 0.005
-
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genet Med. 2020 10; 22(10):1598-1605.
Score: 0.005
-
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966.
Score: 0.005
-
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 01; 58(1):41-47.
Score: 0.005
-
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 09; 28(9):1243-1264.
Score: 0.005
-
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 06; 22(6):983-985.
Score: 0.005
-
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Mol Genet Metab. 2020 03; 129(3):219-227.
Score: 0.005
-
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 04; 97(4):644-648.
Score: 0.005
-
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.
Score: 0.005
-
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genet Med. 2020 03; 22(3):581-589.
Score: 0.004
-
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443.
Score: 0.004
-
A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
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
-
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.004
-
Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.004
-
Hormones and their Structural and Functional Effects on the Brain: How Can We Change our Practice Moving Forward? Pediatr Endocrinol Rev. 2019 Jun; 16(4):452-456.
Score: 0.004
-
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382.
Score: 0.004
-
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.004
-
Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 05 02; 104(5):914-924.
Score: 0.004
-
Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318.
Score: 0.004
-
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
Score: 0.004
-
Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. Spec Care Dentist. 2019 Mar; 39(2):214-219.
Score: 0.004
-
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. Orphanet J Rare Dis. 2019 01 29; 14(1):23.
Score: 0.004
-
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.004
-
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
Score: 0.004
-
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2019 Dec; 62(12):103606.
Score: 0.004
-
Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study. Orphanet J Rare Dis. 2018 10 25; 13(1):187.
Score: 0.004
-
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2.
Score: 0.004
-
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 02; 21(2):275-283.
Score: 0.004
-
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Score: 0.004
-
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 10; 20(10):1274-1283.
Score: 0.004
-
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.
Score: 0.004
-
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 03; 123(3):309-316.
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
-
Asprosin is a centrally acting orexigenic hormone. Nat Med. 2017 Dec; 23(12):1444-1453.
Score: 0.004
-
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.
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
-
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. Mol Genet Metab. 2017 11; 122(3):39-45.
Score: 0.004
-
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.004
-
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul; 39(7):836-8.
Score: 0.004
-
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.004
-
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.004
-
Regional localization of the mouse argininosuccinate lyase gene to chromosome 5. Mamm Genome. 1997; 8(11):871.
Score: 0.004
-
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.004
-
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.004
-
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 09 01; 99(3):704-710.
Score: 0.004
-
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A. 2016 12; 170(12):3165-3171.
Score: 0.004
-
Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep; 20(9):485-95.
Score: 0.004
-
The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9.
Score: 0.004
-
Asprosin, a Fasting-Induced Glucogenic Protein Hormone. Cell. 2016 Apr 21; 165(3):566-79.
Score: 0.003
-
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. Pediatr Endocrinol Rev. 2016 Mar; 13(3):585-601.
Score: 0.003
-
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.
Score: 0.003
-
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet. 2016 Feb 04; 98(2):373-81.
Score: 0.003
-
POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.003
-
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.003
-
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2.
Score: 0.003
-
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2016 06; 18(6):570-6.
Score: 0.003
-
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45.
Score: 0.003
-
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215.
Score: 0.003
-
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. Am J Med Genet A. 2015 Oct; 167A(10):2272-81.
Score: 0.003
-
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. Pediatr Endocrinol Rev. 2015 Jun; 12(4):373-87.
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
-
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov; 38(6):1029-39.
Score: 0.003
-
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22.
Score: 0.003
-
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.003
-
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50.
Score: 0.003
-
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition. Pediatr Endocrinol Rev. 2014 Dec; 12(2):224-38.
Score: 0.003
-
A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells. Cell Rep. 2014 Dec 11; 9(5):1770-1780.
Score: 0.003
-
State of the art review in hypospadias: challenges in diagnosis and medical management. Pediatr Endocrinol Rev. 2014 Sep; 12(1):46-54.
Score: 0.003
-
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014 Oct; 164A(10):2633-7.
Score: 0.003
-
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.003
-
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014 Jul; 164A(7):1713-33.
Score: 0.003
-
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. Gene Ther. 2013 Dec; 20(12):1188-91.
Score: 0.003
-
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat. 2013 Apr; 34(4):566-71.
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
-
ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions. Genet Med. 2013 Apr; 15(4):314-5.
Score: 0.003
-
A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan; 78(1):11-6.
Score: 0.003
-
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan 01; 22(1):1-17.
Score: 0.003
-
High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8.
Score: 0.003
-
Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia. ASAIO J. 2012 Jul-Aug; 58(4):438-9.
Score: 0.003
-
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012 Jun 24; 44(8):928-33.
Score: 0.003
-
Ophthalmologic findings in Aicardi syndrome. J AAPOS. 2012 Jun; 16(3):238-41.
Score: 0.003
-
Guidelines for evaluating and managing children born with disorders of sexual development. Pediatr Ann. 2012 Apr; 41(4):e1-7.
Score: 0.003
-
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet. 2012 Aug; 20(8):852-6.
Score: 0.003
-
The electroencephalogram in neonatal maple syrup urine disease: a case report. Clin EEG Neurosci. 2012 Jan; 43(1):64-7.
Score: 0.003
-
Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):10-5.
Score: 0.003
-
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. Am J Med Genet A. 2011 Dec; 155A(12):3030-4.
Score: 0.003
-
Acute management of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):16-25.
Score: 0.003
-
Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):5-9.
Score: 0.003
-
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.002
-
Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation. Pediatr Blood Cancer. 2011 Aug; 57(2):321-3.
Score: 0.002
-
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13.
Score: 0.002
-
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7.
Score: 0.002
-
The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm. Am J Med Genet A. 2010 Jul; 152A(7):1774-80.
Score: 0.002
-
Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol. 2010 Nov; 27(10):775-84.
Score: 0.002
-
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.002
-
A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2113-21.
Score: 0.002
-
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. Proc Natl Acad Sci U S A. 2009 Sep 01; 106(35):14820-4.
Score: 0.002
-
Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar; 125(2):211-6.
Score: 0.002
-
The gender medicine team: "it takes a village". Adv Pediatr. 2009; 56:145-64.
Score: 0.002
-
Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15; 146A(22):2871-8.
Score: 0.002
-
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008 Aug; 94(4):422-427.
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
-
Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. J Clin Sleep Med. 2008 Apr 15; 4(2):111-8.
Score: 0.002
-
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77.
Score: 0.002
-
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.
Score: 0.002
-
Parkes Weber syndrome occurring in a family with capillary malformations. Clin Dysmorphol. 2007 Jul; 16(3):167-171.
Score: 0.002
-
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.
Score: 0.002
-
Ethical and legal implications of genetic testing in androgen insensitivity syndrome. J Pediatr. 2007 Apr; 150(4):434-8.
Score: 0.002
-
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.
Score: 0.002
-
Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. J Child Neurol. 2005 Sep; 20(9):779-83.
Score: 0.002
-
Epigenetic detection of human chromosome 14 uniparental disomy. Hum Mutat. 2003 Jul; 22(1):92-7.
Score: 0.001
-
Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14. J Med Genet. 2003 Mar; 40(3):e26.
Score: 0.001
-
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn. 2002 Nov; 22(11):1028-32.
Score: 0.001
-
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. Prenat Diagn. 2002 Feb; 22(2):141-3.
Score: 0.001
-
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8.
Score: 0.001
-
Selective regulation of apoptosis: the cytotoxic lymphocyte serpin proteinase inhibitor 9 protects against granzyme B-mediated apoptosis without perturbing the Fas cell death pathway. Mol Cell Biol. 1998 Nov; 18(11):6387-98.
Score: 0.001
-
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet. 1998 Jun 16; 78(1):82-9.
Score: 0.001
-
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997 Sep; 61(3):642-50.
Score: 0.001
-
A cytosolic granzyme B inhibitor related to the viral apoptotic regulator cytokine response modifier A is present in cytotoxic lymphocytes. J Biol Chem. 1996 Nov 01; 271(44):27802-9.
Score: 0.001