Author details

Full Name

Kenneth Rosenbaum

Affiliation

Rare Disease Institute, Children's National Hospital

ORCID

Career Start Year

1971

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35372156	Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.	Front Pediatr	2022
34481768	Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.	Lancet Digit Health	2021
33298948	Missense variant contribution to USP9X-female syndrome.	NPJ Genom Med	2020
29290338	Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.	Am J Hum Genet	2018
26749540	Preoperative evaluation and comprehensive risk assessment for children with Down syndrome.	Paediatr Anaesth	2016
25728777	Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.	Am J Hum Genet	2015
26225593	Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate.	Adv Neonatal Care	2015
25683281	Malignancy in Noonan syndrome and related disorders.	Clin Genet	2015
24435762	Handheld optical coherence tomography during sedation in young children with optic pathway gliomas.	JAMA Ophthalmol	2014
25570068	Ensemble learning for the detection of facial dysmorphology.	Annu Int Conf IEEE Eng Med Biol Soc	2014
24835178	Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.	Med Image Anal	2014
24110526	Automated Down syndrome detection using facial photographs.	Annu Int Conf IEEE Eng Med Biol Soc	2013
24579144	Hierarchical constrained local model using ICA and its application to Down syndrome detection.	Med Image Comput Comput Assist Interv	2013
22180641	Further clinical and molecular delineation of the 15q24 microdeletion syndrome.	J Med Genet	2012
22290657	Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.	Hum Mutat	2012
21357825	Best practices in managing transition to adulthood for adolescents with congenital heart disease: the transition process and medical and psychosocial issues: a scientific statement from the American Heart Association.	Circulation	2011
21907886	Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study.	Pediatr Neurol	2011
21623526	Recovery of damages for wrongful birth.	J Leg Med	2011
20104610	Holoprosencephaly due to numeric chromosome abnormalities.	Am J Med Genet C Semin Med Genet	2010
20812142	Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.	Clin Neuropsychol	2010
20672375	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.	Hum Mutat	2010
19955556	Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.	J Med Genet	2010
18348268	Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.	Am J Med Genet A	2008
17277775	Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.	Nat Genet	2007
18000976	Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.	Am J Med Genet A	2007
16481892	Quantitative dysmorphology assessment in Fabry disease.	Genet Med	2006
11702212	Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.	Hum Genet	2001
10706344	Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children.	J Dev Behav Pediatr	2000
10677301	Detection of chromosomal aberrations by a whole-genome microsatellite screen.	Am J Hum Genet	2000
10767004	Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.	Am J Med Genet	2000
9568224	Familial occurrence of congenital aneurysm of the muscular interventricular septum.	Pediatr Cardiol	1998
9485112	Otologic manifestations of Wolf-Hirschhorn syndrome.	Arch Otolaryngol Head Neck Surg	1998
9066880	Acampomelic campomelic dysplasia: further radiographic variations.	Am J Med Genet	1997
7747785	Further delineation of the branchio-oculo-facial syndrome.	Am J Med Genet	1995
8825891	Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings.	Am J Med Genet	1995
8533859	Detection of a subtle rearrangement of chromosome 22 using molecular techniques.	Am J Med Genet	1995
7733196	Ocular findings in a family with Sotos syndrome (cerebral gigantism).	Am J Ophthalmol	1995
7573131	Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.	Am J Med Genet	1995
7645585	Frontometaphyseal dysplasia: neonatal radiographic diagnosis.	Am J Med Genet	1995
8151482	Persistent pulmonary hypertension in newborn infants with cogenital myotonic dystrophy.	J Pediatr	1994
8083940	Variable prenatal appearance of osteogenesis imperfecta.	J Ultrasound Med	1994
8152876	Cystic sonographic appearance of extralobar pulmonary sequestration.	Pediatr Radiol	1993
8456861	Mosaic 5p tetrasomy.	Am J Med Genet	1993
8291543	Brachmann-de Lange syndrome with normal IQ.	Am J Med Genet	1993
1287646	Prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization.	Prenat Diagn	1992
1582101	Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1.	Clin Pediatr (Phila)	1992
1415349	New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.	Am J Med Genet	1992
1456301	Human situs determination is probably controlled by several different genes.	Am J Med Genet	1992
1348094	Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?	J Med Genet	1992
1684950	Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.	Genomics	1991

1 - 50 of 72

Hatip Aydin

Zeynep Kamil Maternity and Children's Training and Research Hospital

Career Start Year 2010

Number of shared co-authors 0

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 2

Tabib Dabir

Belfast City Hospital

Career Start Year 2006

Number of shared co-authors 9

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 6

Keith K Vaux

university of california san diego Health Physician Network

Career Start Year 1998

Number of shared co-authors 1

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 11

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 6

Luitgard Graul-Neumann

Charite Universitaetsmedizin Berlin

Career Start Year 1996

Number of shared co-authors 7

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 5

Brad Angle

Advocate Children's Hospital

Career Start Year 1994

Number of shared co-authors 5

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 7

Theresa A Grebe

Phoenix Children's Hospital

Career Start Year 1992

Number of shared co-authors 6

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 9

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 11

Jennie Slee

King Edward Memorial Hospital

Career Start Year 1991

Number of shared co-authors 1

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 3

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 2

Isabel K Temple

University of Southampton

Career Start Year 1988

Number of shared co-authors 8

Lihadh Al-Gazali

College of Medicine and Health Sciences, United Arab Emirates University

Career Start Year 1988

Number of shared co-authors 10

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 14

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Career Start Year 1987

Number of shared co-authors 12

Carol L Clericuzio

University of New Mexico Health Sciences Center

Career Start Year 1986

Number of shared co-authors 7

Mira Irons

Children's Hospital Boston, Harvard Medical School

Career Start Year 1985

Number of shared co-authors 5

Fiona Stewart

Belfast City Hospital

Career Start Year 1984

Number of shared co-authors 11

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 15

Susan Schelley

Stanford University

Career Start Year 1982

Number of shared co-authors 4

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 7

Yoshimitsu Fukushima

Nippon Medical School

Career Start Year 1981

Number of shared co-authors 0

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 2

David Sillence

Sydney University Clinical School, Children's Hospital

Career Start Year 1978

Number of shared co-authors 4

row(s) 1 - 30 of 30

Howard M Saal

Cincinnati Children's Hospital Medical Center

Co-authored papers 8

Cynthia J Tifft

National Human Genome Research Institute

Co-authored papers 6

Dina J Zand

Center for Drug Evaluation and Research

Co-authored papers 5

Marius George Linguraru

George Washington University School of Medicine and Health Sciences

Co-authored papers 5

Elaine H Zackai

Children's Hospital of Philadelphia

Co-authored papers 4

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Angela E Lin

MassGeneral Hospital for Children

Co-authored papers 3

Maximilian Muenke

National Human Genome Research Institute, The National Institutes of Health

Co-authored papers 3

Raymond W Sze

Children's Hospital of Philadelphia

Co-authored papers 3

David Valle

Johns Hopkins School of Medicine

Co-authored papers 3

Evan E Eichler

University of Washington

Co-authored papers 2

Roger J Packer

Brain Tumor Institute, Children's National Hospital

Co-authored papers 2

Maria T Acosta

National Institutes of Health

Co-authored papers 2

Sahar Mansour

St George's University Hospitals NHS Foundation Trust

Co-authored papers 2

Benjamin D Solomon

Co-authored papers 2

Joann Bodurtha

Johns Hopkins McKusick-Nathans Department of Genetic Medicine

Co-authored papers 2

Peter Hedera

University of Louisville

Co-authored papers 1

David E Goldgar

University of Utah

Co-authored papers 1

Sally Ann Lynch

University College Dublin

Co-authored papers 1

Hubert J M Smeets

Maastricht University Medical Centre+

Co-authored papers 1

Craig Sable

Children's National Hospital

Co-authored papers 1

Margaret R Wallace

UF Genetics Institute, University of Florida

Co-authored papers 1

Elyse Foster

University of California San Francisco (S.B., Western University

Co-authored papers 1

James F Gusella

Co-authored papers 1

Karen Uzark

University of Michigan ann arbor

Co-authored papers 1

Michael B Bober

Co-authored papers 1

Christopher K Zalewski

Co-authored papers 1

H Ishikawa

Mie University School of Medicine, NYU School of Medicine, New York Medical College, New York University School of Medicine, Oregon Health & Science University, Tufts University School of Medicine, University of Pittsburgh School of Medicine, University of Pittsburgh School of Mediine

Co-authored papers 1

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Co-authored papers 1

Susan J Hayflick

Co-authored papers 1

1 - 30

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