selected publications
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A randomized noninferiority trial of condensed protocols for genetic risk disclosure of Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association.
2014
Academic Article
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Times cited: 27 -
Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis.
2012
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Times cited: 47 -
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Human mutation.
2008
Academic Article
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Times cited: 61 -
The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias: an interdisciplinary approach.
HSS journal : the musculoskeletal journal of Hospital for Special Surgery.
2008
Academic Article
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Times cited: 3 -
Advances in understanding etiology of achondroplasia and review of management.
Current opinion in pediatrics.
2007
Review
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Times cited: 30 -
Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome--some factors which affect the measurement.
HSS journal : the musculoskeletal journal of Hospital for Special Surgery.
2007
Academic Article
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Times cited: 15 -
Cancer genetic testing and assisted reproduction.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2006
Information Resource
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Times cited: 83 -
Assessment of bone mineral density in adults and children with Marfan syndrome.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA.
2003
Academic Article
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Times cited: 43 -
Marfan syndrome: orthopedic and genetic review.
Current opinion in pediatrics.
2002
Review
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Times cited: 47 - Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations. Genetics in medicine : official journal of the American College of Medical Genetics. 2001 Academic Article GET IT
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Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry.
Pediatrics.
2001
Academic Article
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Times cited: 94 -
The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density.
Journal of pediatric orthopedics.
2000
Academic Article
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Times cited: 16 -
Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome.
The American journal of cardiology.
1999
Academic Article
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Times cited: 125 -
Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study.
American journal of medical genetics.
1997
Academic Article
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Times cited: 99 -
The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.
Pediatrics.
1993
Academic Article
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Times cited: 172 -
Marfan syndrome in adolescents and young adults: psychosocial functioning and knowledge.
Journal of developmental and behavioral pediatrics : JDBP.
1990
Academic Article
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Times cited: 19 -
Evaluation of the aorta in the Marfan syndrome by magnetic resonance imaging.
American heart journal.
1986
Academic Article
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Times cited: 15 -
Use of the ultrasound aspiration transducer in midtrimester amniocentesis.
The Journal of reproductive medicine.
1984
Academic Article
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Times cited: 7 -
Cytogenetic findings in the dysmyelopoietic syndrome.
Cancer.
1982
Academic Article
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Times cited: 34 - Legislating science. Society. 1982 Academic Article GET IT
- Ethical issues arising from prenatal diagnosis. Mental retardation. 1981 Academic Article GET IT
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Incidence of chromosomal rearrangements in couples with reproductive loss.
Human genetics.
1980
Academic Article
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Times cited: 27 - 8. A counselor's viewpoint. Birth defects original article series. 1979 Academic Article GET IT
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Chromosomal mosaicism in amniotic fluid cell cultures.
The Journal of pediatrics.
1977
Article
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Times cited: 2 -
Partial deletion of the short arm of chromosome no. 4(4p-): clinical studies in five unrelated patients.
The Journal of pediatrics.
1970
Academic Article
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Times cited: 47