Author details

Full Name

Mira Irons

Affiliation

Children's Hospital Boston, Harvard Medical School

ORCID

Career Start Year

1985

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35020064	Trustworthy Augmented Intelligence in Health Care.	J Med Syst	2022
34532690	Clinicians and Professional Societies COVID-19 Impact Assessment: Lessons Learned and Compelling Needs.	NAM Perspect	2021
33514815	Focused Revision: ACMG practice resource: Genetic evaluation of short stature.	Genet Med	2021
29793376	Longitudinal assessments in continuing specialty certification and lifelong learning.	Med Teach	2018
27841880	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.	Nat Genet	2017
28719049	Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.	Congenit Heart Dis	2017
27355778	The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats.	Acad Med	2016
26445083	Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification.	Acad Med	2016
25564894	Maintenance of certification 2.0--strong start, continued evolution.	N Engl J Med	2015
24811917	Copy number variation plays an important role in clinical epilepsy.	Ann Neurol	2014
23373626	Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization.	J Neurosurg Pediatr	2013
23414129	Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1.	J Neurosurg Pediatr	2013
22407214	[18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation.	J Neurooncol	2012
23059950	Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.	Am J Med Genet C Semin Med Genet	2012
22281936	The development and implementation of an in-service exam for medical genetics residency programs.	Genet Med	2012
20823033	Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1.	J Child Neurol	2011
22075526	Competencies for the physician medical geneticist in the 21st century.	Genet Med	2011
22040220	Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.	Clin Genet	2011
21626671	Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.	Am J Med Genet A	2011
21716121	Chromosomal microarray testing influences medical management.	Genet Med	2011
21248748	The phenotype of recurrent 10q22q23 deletions and duplications.	Eur J Hum Genet	2011
20310005	Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1.	Pediatr Blood Cancer	2010
20440536	Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).	Doc Ophthalmol	2010
20468056	Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.	Am J Med Genet B Neuropsychiatr Genet	2010
20186804	22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.	Am J Med Genet A	2010
20139412	Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1.	J Child Neurol	2010
19232556	Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.	Am J Hum Genet	2009
19920235	Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.	JAMA	2009
19451827	ACMG practice guideline: genetic evaluation of short stature.	Genet Med	2009
18978676	The genetics clinic: where does the time go?	Genet Med	2008
17506099	A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.	Am J Med Genet A	2007
17910064	Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.	Am J Med Genet A	2007
17901113	Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.	Clin Chem	2007
17986937	Brainstem lesions in neurofibromatosis type 1.	Neurosurgery	2007
17526801	The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.	J Med Genet	2007
16892302	Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.	Am J Med Genet A	2006
17172942	Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.	Genet Med	2006
16832833	Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.	Prenat Diagn	2006
16957476	Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.	Clin Dysmorphol	2006
15580636	Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.	Am J Med Genet A	2005
15852040	Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.	Eur J Hum Genet	2005
15965973	Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?	Birth Defects Res A Clin Mol Teratol	2005
14605787	MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.	Neuroradiology	2004
15611399	The biology and management of laryngeal neurofibroma.	Arch Otolaryngol Head Neck Surg	2004
15264280	Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.	Am J Med Genet A	2004
15264279	Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.	Am J Med Genet A	2004
15372522	Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.	Am J Med Genet A	2004
15496612	Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726.	Pediatr Res	2004
15157599	The call from the newborn screening laboratory: frustration in the afternoon.	Pediatr Clin North Am	2004
12707968	Participation by clinical geneticists in genetic advocacy groups.	Am J Med Genet A	2003

1 - 50 of 91

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 7

Julie Richer

University of Ottawa, Canada Children's Hospital of Eastern Ontario

Career Start Year 2005

Number of shared co-authors 4

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 8

Christ??le du Souich

University of British Columbia

Career Start Year 1998

Number of shared co-authors 1

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 7

Vandana Shashi

Duke University School of Medicine

Career Start Year 1994

Number of shared co-authors 14

Brad Angle

Advocate Children's Hospital

Career Start Year 1994

Number of shared co-authors 8

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 17

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 8

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 11

Ada Hamosh

Johns Hopkins University School of Medicine

Career Start Year 1991

Number of shared co-authors 19

Felicity Collins

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

Career Start Year 1990

Number of shared co-authors 5

Nicola K Poplawski

Royal Adelaide Hospital

Career Start Year 1990

Number of shared co-authors 0

Annette Feigenbaum

Rady Children's Hospital and The University of California

Career Start Year 1990

Number of shared co-authors 3

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 14

Dina J Zand

Center for Drug Evaluation and Research

Career Start Year 1989

Number of shared co-authors 8

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 14

Isabel K Temple

University of Southampton

Career Start Year 1988

Number of shared co-authors 10

Lihadh Al-Gazali

College of Medicine and Health Sciences, United Arab Emirates University

Career Start Year 1988

Number of shared co-authors 14

David Bick

Genomics England Ltd.

Career Start Year 1987

Number of shared co-authors 13

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 23

Petter Str??mme

University of Oslo

Career Start Year 1987

Number of shared co-authors 9

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 9

Howard M Saal

Cincinnati Children's Hospital Medical Center

Career Start Year 1985

Number of shared co-authors 8

Fiona Stewart

Belfast City Hospital

Career Start Year 1984

Number of shared co-authors 10

Susan Schelley

Stanford University

Career Start Year 1982

Number of shared co-authors 10

Yoshimitsu Fukushima

Nippon Medical School

Career Start Year 1981

Number of shared co-authors 1

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 4

Kenneth Rosenbaum

Rare Disease Institute, Children's National Hospital

Career Start Year 1971

Number of shared co-authors 5

row(s) 1 - 30 of 30

Elaine H Zackai

Children's Hospital of Philadelphia

Co-authored papers 6

Amy E Roberts

Boston Children's Hospital, Harvard Medical School

Co-authored papers 5

David T Miller

Boston Children's Hospital

Co-authored papers 4

Han G Brunner

Maastricht University Medical Centre

Co-authored papers 3

Cynthia C Morton

Co-authored papers 3

Theresa A Grebe

Phoenix Children's Hospital

Co-authored papers 3

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Co-authored papers 3

Mark W Kieran

Boston Children's Hospital and Harvard Medical School

Co-authored papers 3

Angela E Lin

MassGeneral Hospital for Children

Co-authored papers 3

James F Gusella

Co-authored papers 3

Charles Lee

Co-authored papers 2

Bert B A de Vries

Radboud University Medical Center

Co-authored papers 2

James R Lupski

Baylor College of Medicine

Co-authored papers 2

Richard E Hawkins

Uniformed Services University of the Health Sciences

Co-authored papers 2

Fuki M Hisama

University of Washington

Co-authored papers 2

Arthur L Beaudet

Baylor College of Medicine

Co-authored papers 2

Liliana C Goumnerova

Co-authored papers 2

Charles E Schwartz

Co-authored papers 2

Christopher A Walsh

Broad Institute of MIT and Harvard

Co-authored papers 2

Nicole de Leeuw

Radboud University Medical Center

Co-authored papers 2

Kathleen A Leppig

Kaiser Permanente Washington

Co-authored papers 2

Susan A Berry

University of Minnesota

Co-authored papers 1

Mustafa Sahin

Harvard Medical School

Co-authored papers 1

Tina Young Poussaint

Co-authored papers 1

Brynn Levy

Co-authored papers 1

Cynthia V Stack

Ann and Robert H. Lurie Children's Hospital of Chicago

Co-authored papers 1

Bradley S Marino

Lurie Children's Hospital

Co-authored papers 1

Jacques S Beckmann

University of Lausanne

Co-authored papers 1

John A Phillips

Vanderbilt University Medical Center

Co-authored papers 1

Tobias Loddenkemper

Harvard Medical School

Co-authored papers 1

1 - 30

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