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: 26 -
Bilateral maculopathy associated with Pierre Robin sequence.
2012
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Times cited: 4 -
Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis.
2012
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Times cited: 51 -
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: 57 -
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: 111 -
Enhancing patient autonomy with risk assessment and invasive diagnosis: an ethical solution to a clinical challenge.
American journal of obstetrics and gynecology.
2008
Review
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Times cited: 22 -
Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.
2007
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Times cited: 6 -
Advances in understanding etiology of achondroplasia and review of management.
Current opinion in pediatrics.
2007
Review
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Times cited: 33 -
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: 112 -
Cancer genetic testing and assisted reproduction.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2006
Review
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Times cited: 88 -
Prenatal diagnosis of trisomy 3 mosaicism.
Prenatal diagnosis.
2004
Review
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Times cited: 9 -
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: 50 -
Marfan syndrome: orthopedic and genetic review.
Current opinion in pediatrics.
2002
Review
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Times cited: 52 -
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: 95 -
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
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Times cited: 15 -
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: 19 -
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: 131 -
New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia.
1998
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Times cited: 8 -
Predictive genetic tests: problems and pitfalls.
Annals of the New York Academy of Sciences.
1997
Review
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Times cited: 11 -
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: 104 -
Definition of the critical interval for Smith-Magenis syndrome.
1997
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Times cited: 28 -
Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure.
1996
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Times cited: 3 -
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: 181 -
Reproductive technologies for prenatal diagnosis.
Fetal diagnosis and therapy.
1993
Review
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Times cited: 4 -
Fanconi anemia: a model for genetic causes of abnormal brain development.
Developmental medicine and child neurology.
1992
Academic Article
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Times cited: 15 -
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: 22 -
Interstitial deletion of chromosome 2 (p23p25).
1987
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Times cited: 18 -
Berry aneurysms, cirrhosis, pulmonary emphysema, and bilateral symmetrical cerebral calcifications: a new syndrome.
1987
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Times cited: 8 -
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 -
De novo duplication of the 7q11 leads to q22 region.
1983
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Times cited: 11 -
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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A liveborn case of 49,XXXY, + 18.
1980
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Times cited: 6 -
Incidence of chromosomal rearrangements in couples with reproductive loss.
Human genetics.
1980
Academic Article
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Times cited: 29 -
Prenatal diagnosis of trisomy 20 mosaicism.
1979
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Times cited: 14 -
8. A counselor's viewpoint.
Birth defects original article series.
1979
Academic Article
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Times cited: 1 -
De novo trisomy 9pter leads to q13.
1977
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Times cited: 3 -
Chromosomal mosaicism in amniotic fluid cell cultures.
The Journal of pediatrics.
1977
Letter
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Times cited: 2 -
A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-.
1976
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Times cited: 24 - A possible new mental retardation syndrome. 1976 GET IT
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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: 49