Robert William Marion

Robert William Marion


Prominent publications by Robert William Marion

KOL Index score: 8290

Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual’s medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. ...

Known for Genetic Testing |  Cardiac Death |  Long Qt Syndrome |  Qualitative Study |  50 Participants
KOL Index score: 7644

Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22f MIDI (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MID1 encodes a member of the B-box family of proteins, which contain protein–protein interaction domains, including a RING finger, and are ...

Known for Ring Finger |  Midline Development |  Opitz Syndrome |  New Gene |  Cell Proliferation
KOL Index score: 7531

Hirschsprung disease is a developmental disorder resulting from the arrest of the craniocaudal migration of enteric neurons from the neural crest along gastrointestinal segments of variable length; see Behrman [Nelson textbook of pediatrics, 1992:954-956]. It is a heterogeneous disorder in which familial cases map to at least three loci whose function is necessary for normal neural crest-derived cell development. Homozygous mutations in the endothelin-B receptor gene (EDNRB) on 13q22 ...

Known for Hirschsprung Disease |  Chromosome 13 |  Developmental Disorder |  Waardenburg Syndrome |  Interstitial Deletion
KOL Index score: 7008

Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member's cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly ...

Known for Inherited Cardiac |  Genetic Testing |  Qualitative Study |  Sudden Death |  Long Qt Syndrome
KOL Index score: 6849

Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and Prader–Willi (PW)-like features. Only a minority of cases in the literature have been characterized with high resolution techniques, making genotype–phenotype correlations difficult. We report 12 individuals with overlapping, 200-kb to 16.4-Mb interstitial deletions within 6q15q22.33 characterized by microarray-based comparative genomic ...

Known for Interstitial 6q Deletions |  Situ Hybridization |  Variable Phenotypes |  Growth Retardation |  Dysmorphic Features
KOL Index score: 6828

Tubulins, and microtubule polymers into which they incorporate, play critical mechanical roles in neuronal function during cell proliferation, neuronal migration, and postmigrational development: the three major overlapping events of mammalian cerebral cortex development. A number of neuronally expressed tubulin genes are associated with a spectrum of disorders affecting cerebral cortex formation. Such "tubulinopathies" include lissencephaly/pachygyria, polymicrogyria-like malformations, ...

Known for Novo Mutations |  Tubulin Gene |  Onset Epilepsy |  Microtubule Function |  Neuronal Migration
KOL Index score: 6701

Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid-facial malformations, symmetric bony syndactyly of hands and feet, and varying degrees of mental retardation, is most frequently caused by a de novo mutation. Two missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been found to account for the disorder in approximately 98% of affected patients. Seven cases of prenatal ultrasound diagnosis have been reported. Although one ...

Known for Apert Syndrome |  Prenatal Diagnosis |  Trimester Molecular |  Varying Degrees |  Mental Retardation
KOL Index score: 6575

Velocardiofacial syndrome (VCF) has overlapping features with DiGeorge sequence; both result from a developmental field defect and probably represent contiguous gene deletion syndromes. The association of chromosome 22q11 deletion with DiGeorge sequence led us to do molecular analysis of chromosome 22 in 18 patients with VCF, who ranged in age from 6 to 42 years. All 18 patients had monosomy for the chromosome region 22q11. Retrospectively, we correlated the presence of the deletion with ...

Known for Velocardiofacial Syndrome |  Human Pair |  Gene Deletion |  Digeorge Sequence |  Female Heart Defects
KOL Index score: 6343

A series of earlier reports has described the velo-cardio-facial syndrome (VCFS), a syndrome of multiple anomalies including cleft palate, heart malformations, facial characteristics, and learning disabilities. The patients reported previously were primarily ascertained from a craniofacial program at a large tertiary medical center. Recent reports, including a companion paper in this issue, suggest that this common syndrome of clefting is also a common syndrome of congenital heart defect ...

Known for Velo‐cardio‐facial Syndrome |  Cleft Palate |  Learning Disabilities |  Digeorge Sequence |  Vcfs Phenotype
KOL Index score: 6075

We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to occur in trisomy 18: five points for the presence of features previously reported in 50% or more of affected infants; three points for features reported to occur in between 10% and 50% of affected individuals; and one point for features known to occur in less than 10% of infants with the disorder. Using the scoring system, we ...

Known for Trisomy 18 |  Neonatal Period |  Retrospective Studies |  Infants Features |  Human Pair
KOL Index score: 4785

The combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy occurred in an infant with Opitz syndrome. Neither of these defects has previously been reported in association with Opitz syndrome. These malformations, which are midline defects, further characterize this syndrome as an impairment in midline development. The spectrum of ...

Known for Bladder Exstrophy |  Opitz Syndrome |  Congenital Heart |  Midline Development |  Double Outlet Ventricle
KOL Index score: 4738

We report a case of hepatoblastoma in a 10-year-old girl with mosaic-type trisomy 18. A comprehensive literature review reveals only 2 cases involving mosaic trisomy 18 patients. Our patient underwent an abbreviated chemotherapy course before complete surgical resection. Her hepatoblastoma did not contain cells with trisomy 18. The conservative management approach resulted in a successful outcome; she remains disease free >2 years after surgery. Along with presenting a literature review, ...

Known for Trisomy 18 |  Human Pair |  Hepatoblastoma Mosaic |  Literature Review |  Complete Surgical Resection
KOL Index score: 4594

Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly toes 2-5. Both patients developed bowel obstruction secondary to ...

Known for Pfeiffer Syndrome |  Type 3 |  Prune Belly |  Broad Thumbs |  Intestinal Malrotation


Robert William Marion: Influence Statistics

Sample of concepts for which Robert William Marion is among the top experts in the world.
Concept World rank
literature williams syndrome #1
recognized trigonocephaly #1
elevated nasal bridge #1
new mutation mother #1
frontoocular syndrome #1
frontoocular fgfr #1
hepatoblastoma mosaic #1
philtrum higharched palate #1
fronto‐ocular syndrome #1
narrow bifrontal region #1
frontoocular syndrome mother #1
ocular proptosis ptosis #1
glabellar capillary hemangiomas #1
brugada syndrome individuals #2
seckel syndrome report #2
fetal aids #2
pfeiffer syndrome type #2
literature seckel #2
2 pfeiffer #2
anomalies seckel #2
inherited genetic sharing #2
individuals deleterious mutation #2
analyzed interview #3
cohen 1993 genet #3
skull acquired #3
col11a1 locus #3
types severe cases #3
transcripts 50 participants #3
severity dysmorphism #3
severity dysmorphic #3
17 hypocalcemia #3
94 learning disabilities #3
craniofacial dysmorphism children #3
families cardiogenetic conditions #3
velocardiofacial syndrome vcf #3
normal outcome rule #3
120 patients series #3
families cardiogenetic #3
hypothyroidism mullerian #3
dysmorphic features presence #3
individuals cognitive confusion #3
development mild delay #3
severely dysmorphic #3
cardiogenetic conditions #3
70 ophthalmologic findings #3

Key People For Hirschsprung Disease

Top KOLs in the world
Stanislas Lyonnet
hirschsprung disease charge syndrome intellectual disability
Jeanne Amiel
hirschsprung disease pierre robin charge syndrome
Aravinda Chakravarti
blood pressure hirschsprung disease human chromosome
Isabella Ceccherini
hirschsprung disease ret proto periodic fever
Munnich Munnich
respiratory chain hirschsprung disease human pair
Anna Pelet
hirschsprung disease fibroblast growth factor ret proto

Robert William Marion:Expert Impact

Concepts for whichRobert William Marionhas direct influence:Hirschsprung disease,  Marshall syndrome,  Genetic testing,  Amniotic fluid,  Cardiogenetic conditions,  Prenatal diagnosis,  Sudden cardiac death,  Williams syndrome.

Robert William Marion:KOL impact

Concepts related to the work of other authors for whichfor which Robert William Marion has influence:Velocardiofacial syndrome,  Human pair,  Situ hybridization,  Genetic testing,  Cleft palate,  Intellectual disability,  Prenatal diagnosis.



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Division of Genetic Medicine, The Children's Hospital at Montefiore, Bronx, New York, USA | Children's Hospital at Montefiore/Albert Einstein College of Medicine, Bronx, NY. | Children's Hospital at Montefiore, Bronx, NY. | Department of Pediatrics,

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