Robert William Marion: Influence Statistics

Robert William Marion

Robert William Marion

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. | ...

Robert William Marion: Expert Impact

Concepts for which Robert William Marion has direct influence: Hirschsprung disease , Marshall syndrome , Genetic testing , Amniotic fluid , Cardiogenetic conditions , Prenatal diagnosis , Sudden cardiac death .

Robert William Marion: KOL impact

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

KOL Resume for Robert William Marion

Year
2021

Division of Genetic Medicine, The Children's Hospital at Montefiore, Bronx, New York, USA

2020

Children's Hospital at Montefiore/Albert Einstein College of Medicine, Bronx, NY.

2018

Children's Hospital at Montefiore, Bronx, NY.

2016

Department of Pediatrics, Division of Genetic Medicine, Children’s Hospital at Montefiore, Albert Einstein College of Medicine, 3415 Bainbridge Avenue, 10467, Bronx, NY, USA

2015

Children's Hospital at Montefiore, Bronx, NY Department of Pediatrics, Division of Genetics

2014

Department of Pediatrics, Divisions of Developmental Medicine & Genetics, Children’s Hospital at Montefiore, Bronx, NY, USA

2013

Department of Pediatrics, Children's Hospital at Montefiore/Albert Einstein College of Medicine, Bronx, NY.

Divisions of Developmental Medicine & Genetics, Children's Hospital at Montefiore, 3415 Bainbridge Avenue, Bronx, NY, USA.

2012

Department of Pediatrics, Division of Genetics, Children’s Hospital at Montefiore, 3415 Bainbridge Ave., 10467, Bronx, NY, USA

2006

Dr. Shur is completing her genetics fellowship at Montefiore Medical Center and the Albert Einstein College of Medicine. Dr. Gross is an associate professor of Obstetrics & Gynecology and Women's Health and Pediatrics at the Albert Einstein College of Medicine and the Co-Director of the Division of Reproductive Genetics at Montefiore Medical Center. Dr. Marion is a professor of Pediatrics and Obstetrics & Gynecology and Women's Health at the Albert Einstein College of Medicine and the Chief of the Division of Genetics at Montefiore Medical Center.

2003

Center for Congenital Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA

2002

Center for Congenital Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York

2001

Children's Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York

2000

Montefiore Medical Center, Department of Pediatrics, 111 East 210th Street, Bronx, NY 10467.

1999

Center for Congenital Disorders, Montefiore Medical Center, 111E 210th St. NW556, Bronx, NY 10467, USA, US

1998

Center for Congenital Disorders, Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York

1997

Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, 10467–2401, Bronx, New York, USA

1996

Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York, US

1995

Department of Pediatrics, Divisions of Genetics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York

Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY

1994

Department of Otolaryngology, and Department of Pediatrics, Center for Congenital Disorders, Montefiore Medical Center, The Bronx, New York, USA

1993

Center for Congenital Disorders and the Department of Pediatrics, Montefiore Medical Center and the Albert Einstein College of Medicine, Bronx

Blythedale Children's Hospital, Valhalla, New York

1992

Center for Congenital Disorders, Montefiore Medical Center, Bronx, NY 10467

1991

Department of Pediatrics Albert Einstein College of Medicine Center for Congenital Disorders Montefiore Medical Center Bronx, New York 10467

1990

Department of Pediatrics, Division of Critical Care, Montefiore Medical Center, USA

1989

Center for Congenital Disorders Montefiore Medical Center/North Central Bronx Hospital, Albert Einstein College of Medicine, Bronx, New York

1988

Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada

Deaartment of Pediatrics Albert Einstein College of Medicine Bronx, NY 10461 USA

1987

Department of Pediatrics, Arye Rubinstein. Albert Einstein College of Medicine, Bronx, NY

1986

Departments of Pediatrics (Division of Genetics), Neurology and Pathology, Montefiore Medical Center and the Albert Einstein College of Medicine, Bronx, New York, 10461, USA

1979

Department of Radiology of the Albert Einstein College of Medicine Bronx, New York, USA

Prominent publications by Robert William Marion

KOL-Index: 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 ...
Known for Genetic Testing | Cardiac Death | Long Qt Syndrome | Qualitative Study
KOL-Index: 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 ...
Known for Ring Finger | Midline Development | Opitz Syndrome | New Gene
KOL-Index: 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 ...
Known for Hirschsprung Disease | Chromosome 13 | Developmental Disorder | Waardenburg Syndrome
KOL-Index: 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 ...
Known for Inherited Cardiac | Genetic Testing | Qualitative Study | Sudden Death
KOL-Index: 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 ...
Known for Interstitial 6q Deletions | Situ Hybridization | Variable Phenotypes | Growth Retardation
KOL-Index: 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 ...
Known for Novo Mutations | Tubulin Gene | Onset Epilepsy | Microtubule Function
KOL-Index: 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 ...
Known for Apert Syndrome | Prenatal Diagnosis | Trimester Molecular | Varying Degrees
KOL-Index: 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 ...
Known for Velocardiofacial Syndrome | Human Pair | Gene Deletion | Digeorge Sequence
KOL-Index: 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 ...
Known for Velo‐cardio‐facial Syndrome | Cleft Palate | Learning Disabilities | Digeorge Sequence
KOL-Index: 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 ...
Known for Trisomy 18 | Neonatal Period | Retrospective Studies | Infants Features
KOL-Index: 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 ...
Known for Bladder Exstrophy | Opitz Syndrome | Congenital Heart | Midline Development
KOL-Index: 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 ...
Known for Trisomy 18 | Human Pair | Hepatoblastoma Mosaic | Literature Review
KOL-Index: 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 ...
Known for Pfeiffer Syndrome | Type 3 | Prune Belly | Broad Thumbs

Key People For Hirschsprung Disease

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Anna Pelet
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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,