John C Carey: Influence Statistics

John C Carey

John C Carey

Intermountain Primary Children's Hospital Differences in Sex Development Clinic, USA | Division of Pediatric Genetics, Department of Pediatrics, University of Utah School of ...


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John C Carey: Expert Impact

Concepts for which John C Carey has direct influence: Neurofibromatosis type , Human pair , Pulmonary hypoplasia , Anterolateral bowing , Cloacal exstrophy , Birth defects , Developmental delay .

John C Carey: KOL impact

Concepts related to the work of other authors for which for which John C Carey has influence: Neurofibromatosis type , Intellectual disability , Human pair , Williams syndrome , Mental retardation , Prenatal diagnosis , Situ hybridization .

KOL Resume for John C Carey

Year
2021

Intermountain Primary Children's Hospital Differences in Sex Development Clinic, USA

Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah.

2020

Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA

2019

Department of Pediatrics, Division of Medical Genetics, School of Medicine, University of Utah, Salt Lake City, UT, USA

2018

Department of Pediatrics, University of Utah, Salt Lake City, UT, USA

2017

University of Utah School of Medicine Department of Pediatrics Salt Lake City Utah

2016

Department of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America

2015

University of Utah School of Medicine Division of Medical Genetics Department of Pediatrics Salt Lake City Utah

2014

Department of Pediatrics, University of Utah, Salt Lake City, Utah;

University of Utah School of Medicine, Salt Lake City, Utah, USA

2013

Division of Medical Genetics, Department of Pediatrics University of Utah Health Science Center Salt Lake CityUtah

University of Utah School of Medicine Department of Obstetrics and Gynecology Salt Lake City Utah

2012

American Journal of Medical Genetics, 419 Wakara Way, Suite 213, Salt Lake City, UT 84108

University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132

Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah

2011

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA

Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah

2010

Department of Pediatrics, University of Utah College of Medicine, Salt Lake City, UT, USA

2009

From the *Shriners Hospitals for Children; and Departments of †Pediatrics, ‡Orthopedics, and §Radiology, University of Utah, Salt Lake City, UT.

Shriners Hospital for Children, Salt Lake City, Utah

419 Wakara Way, Suite 213, Salt Lake City, UT 84108

2008

Division of Medical Genetics, 419 Wakara Way, Suite 213, Salt Lake City, UT 84108.

Utah Birth Defects Network, Utah Department of Health, Salt Lake City, Utah

Shriners Hospitals for Children, Salt Lake City, SLC, UT, USA

2007

Department of Pediatrics and Department of Family and Preventive Medicine, University of Utah, Salt Lake City, Utah.

University of Utah Health Sciences Center, American Journal of Medical Genetics, 419 Wakara Way, Suite 213, Salt Lake City, UT 84108

Shriners Hospital for Children Intermountain, Salt Lake City, Utah

Prominent publications by John C Carey

KOL-Index: 16790 . OBJECTIVE: Little is known about how very low birth weight (VLBW) affects survival and morbidities among infants with trisomy 13 (T13) or trisomy 18 (T18). We examined the care plans for VLBW infants with T13 or T18 and compared their risks of mortality and neonatal morbidities with VLBW infants with trisomy 21 and VLBW infants without birth defects. METHODS: Infants with birth weight 401 ...
Known for Vlbw Infants | T13 T18 | Trisomy 13 | Newborn Infant
KOL-Index: 15960 . Wolf–Hirschhorn syndrome (WHS) is a complex genetic disorder caused by the loss of genomic material from the short arm of chromosome 4. Genotype–phenotype correlation studies indicated that the loss of genes within 4p16.3 is necessary for expression of the core features of the phenotype. Within this region, haploinsufficiency of the genes WHSC1 and LETM1 is thought to be a major ...
Known for Hirschhorn Syndrome | Letm1 Whsc1 | Human Pair | Preschool Chromosomes
KOL-Index: 13500 . AIMS: Transforming growth factor-β (TGF-β) signaling is critical for the differentiation of smooth muscle cells (SMCs) into quiescent cells expressing a full repertoire of contractile proteins. Heterozygous mutations in TGF-β receptor type II (TGFBR2) disrupt TGF-β signaling and lead to genetic conditions that predispose to thoracic aortic aneurysms and dissections (TAADs). The aim of this ...
Known for Aortic Aneurysms | Smooth Muscle | Transforming Growth Factor | Contractile Proteins
KOL-Index: 13029 . BACKGROUND: Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with pneumatocele formation, Candida infections, and skeletal/connective tissue abnormalities. Recently it was shown that heterozygous signal transducer and activator of transcription 3 (STAT3) mutations cause autosomal-dominant ...
Known for Stat3 Phosphorylation | Signal Transducer | Patients Hies | Ige Syndrome
KOL-Index: 11752 . Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features1,2,3. Genital anomalies, pyloric stenosis, congenital diaphragmatic ...
Known for Human Homolog | Cdls Nipbl | Drosophila Melanogaster | Lange Syndrome
KOL-Index: 10921 . Tuberous Sclerosis Complex (TSC) is a multisystemic condition caused by mutations in TSC1 or TSC2, but a pathogenic variant is not identified in up to 10% of the patients. The aim of this study was to delineate the phenotype of pediatric and adult patients with a definite clinical diagnosis of TSC and no mutation identified in TSC1 or TSC2. We collected molecular and clinical data of 240 ...
Known for Tuberous Sclerosis | Patients Tsc | Deep Phenotyping | Nmi Individuals
KOL-Index: 10815 . Malformations and genetic disorders are the leading cause of infant mortality in the US. Many malformations have a genetic basis due to genic, chromosomal, or multifactorial causation. We have studied the proportion of pediatric cases in a university-affiliated children's hospital that died of malformations and genetic disorders. We reviewed, retrospectively, deaths over a 4 year period ...
Known for Genetic Disorders | Infant Mortality | Pediatric Hospital | Congenital Abnormalities
KOL-Index: 10715 . BACKGROUND AND OBJECTIVES: Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum disorders associated with dysmorphic features. Chromosomal microarray (CMA) can detect copy number variants <1 Mb and identifies size and presence of known genes. The aim of this study was to demonstrate the usefulness of CMA, as a ...
Known for Dysmorphic Features | Chromosomal Microarray | Developmental Delay | Spectrum Disorders
KOL-Index: 10569 . OBJECTIVE: To assess the association between genitourinary infections in the month before conception to the end of the first trimesterand gastroschisis. DESIGN: Case-control study with self reported infections from a computer assisted telephone interview. SETTING: National birth defects prevention study, a multisite, population based study including 10 surveillance systems for birth ...
Known for Genitourinary Infections | Birth Defects | Prevention Study | United States
KOL-Index: 10527 . In the course of efforts to identify the neurofibromatosis type 1 gene (NF1), three genes were found embedded within an intron of NF1. The cDNA sequence of one of these genes (OMGP) encodes oligodendrocyte-myelin glycoprotein. OMGP spans at least 2.7 kb of genomic DNA, and it maps within 4 kb of the breakpoint of a balanced chromosomal translocation carried by an individual with NF1. OMGP ...
Known for Myelin Glycoprotein | 1 Gene | Human Pair | Neurofibromatosis Type
KOL-Index: 10483 . Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic characterization of a new homeobox gene, RIEG, causing this disorder. Six mutations in RIEG were found in individuals with the disorder. The cDNA sequence of Rieg, the murine homologue ...
Known for Rieger Syndrome | Complementary Embryonic | Box Transcription | Anterior Chamber
KOL-Index: 10159 . Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the DNA-binding domain of the T-box gene, TBX3, have been demonstrated to cause UMS. However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS. Furthermore, no ...
Known for Mutations Tbx3 | Mammary Syndrome | Dnabinding Domain | Phenotype Relationship
KOL-Index: 10151 . Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in ...
Known for Cloacal Exstrophy | International Clearinghouse | Birth Defects Surveillance | Epidemiologic Study
KOL-Index: 10027 . In an effort to identify regions on chromosome 18 that may be critical in the appearance of the Edwards syndrome phenotype, we have analyzed six patients with partial duplication of chromosome 18. Four of the patients have duplications involving the distal half of 18q (18q21.1-qter) and are very mildly affected. The remaining two patients have most of 18q (18q12.1-qter) duplicated, are ...
Known for Chromosome 18 | Edwards Syndrome | Situ Hybridization | Human Pair
KOL-Index: 9948 . OBJECTIVES: Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome (1 in 5000 newborns). 1p36.3 deletions account for 0.5% to 1.2% of idiopathic mental retardation; thus, knowledge about the condition is important for pediatricians caring for such patients. Despite 100 reported cases, little is known about its natural ...
Known for Developmental Delay | Deletion 1p36 Syndrome | Mental Retardation | Situ Hybridization

Key People For Neurofibromatosis Type

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Jan M Friedman
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Intermountain Primary Children's Hospital Differences in Sex Development Clinic, USA | Division of Pediatric Genetics, Department of Pediatrics, University of Utah School of Medicine, USA | Department of Pediatrics, Division of Medical Genetics, Univ