selected scholarly activity
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conferences
- Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies.. American Journal of Human Genetics. 307-307. 2003
- Prenatally detected triploidy/trisomy 7 mosaic.. American Journal of Human Genetics. 294-294. 2002
- Severe knee hyperextension in a fetus with trisomy 21: Association or coincidence?. American Journal of Human Genetics. 668-668. 2001
- Dysmorphic facial features, CNS abnormalities, hand malformations, and myocardial cytomegaly in three female fetuses: A familial fetal neurodegenerative disorder?. American Journal of Human Genetics. A335-A335. 1999
- Trisomy 21 and Ebstein Anomaly.. American Journal of Human Genetics. A152-A152. 1999
- Achondroplasia-Hypochondroplasia Complex in a newborn.. American Journal of Human Genetics. A101-A101. 1997
- The duty to recontact: attitudes of genetics service providers.. American Journal of Human Genetics. A57. 1997
- A NOVEL-APPROACH TO THE PROVISION OF DIAGNOSIS OF HUNTINGTON DISEASE (HD) THROUGH A PREDICTIVE TESTING PROGRAM. American Journal of Human Genetics. 313-313. 1991
- MORBIDITY RISKS IN MOOD DISORDERS. American Journal of Human Genetics. 481-481. 1991
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journal articles
- The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics, Part A. 161:1833-1852. 2013
- 2α-Methyl-19-nor-(20S)-1,25-dihydroxyvitamin D3 protects the insulin 2 knockout non-obese diabetic mouse from developing type 1 diabetes without hypercalcaemia. Clinical and Experimental Immunology. 166:325-332. 2011
- Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases. American Journal of Medical Genetics, Part A. 152A:2029-2033. 2010
- Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. American Journal of Medical Genetics, Part A. 146A:354-360. 2008
- Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. Clinical Genetics. 64:300-309. 2003
- Fluorescence in situ hybridization of uncultured lymphocytes from cystic hygroma fluid: a potential approach for rapid prenatal diagnosis. Prenatal Diagnosis. 22:81-82. 2002
- Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. Clinical Genetics. 57:388-393. 2000
- Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. American Journal of Medical Genetics, Part A. 87:226-229. 1999
- Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus. American Journal of Medical Genetics, Part A. 87:226-229. 1999
- Reply to Sharpe. American Journal of Human Genetics. 65:1204-1204. 1999
- The Duty to Recontact: Benefit and Harm. American Journal of Human Genetics. 65:1201-1204. 1999
- Achondroplasia-hypochondroplasia complex in a newborn infant. American Journal of Medical Genetics, Part A. 84:396-400. 1999
- Achondroplasia–hypochondroplasia complex in a newborn infant. American Journal of Medical Genetics, Part A. 84:396-400. 1999
- The Duty to Recontact: Attitudes of Genetics Service Providers. American Journal of Human Genetics. 64:852-860. 1999
- Deletion 3q in Two Patients With Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES). Journal of Pediatric Ophthalmology and Strabismus. 35:271-276. 1998
- Staying informed and recontacting patients about research advances: a study of patient attitudes.. American Journal of Human Genetics. 59:A335. 1996
- Mood disorder service genetic database: Morbidity risks for mood disorders in 3,942 first‐degree relatives of 671 index cases with single depression, recurrent depression, bipolar I, or bipolar II. American Journal of Medical Genetics, Part A. 54:132-140. 1994
- ATTITUDES TOWARD DIRECT PREDICTIVE TESTING FOR THE HUNTINGTON DISEASE GENE - RELEVANCE FOR OTHER ADULT-ONSET DISORDERS. Journal of the American Medical Association (JAMA). 270:2321-2325. 1993
- Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease. Journal of the American Medical Association (JAMA). 270:2321-2325. 1993
- Obtaining a Family Psychiatric History: Is it Worth the Effort?. Canadian Journal of Psychiatry. 38:590-594. 1993
- Diagnosis of Huntington disease: A model for the stages of psychological response based on experience of a predictive testing program. American Journal of Medical Genetics, Part A. 47:368-374. 1993
- Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.. Journal of Medical Genetics. 30:549-556. 1993
- The Psychological Consequences of Predictive Testing for Huntingtonʼs Disease. Obstetrical and Gynecological Survey. 48:248-250. 1993
- The Psychological Consequences of Predictive Testing for Huntington’s Disease. New England Journal of Medicine. 327:1401-1405. 1992
- Predictive testing for Huntington disease.. Journal of Medical Ethics. 18:47-48. 1992
- Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. American Journal of Medical Genetics, Part A. 42:508-515. 1992
- Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk. American Journal of Medical Genetics, Part A. 42:499-507. 1992
- Linkage disequilibrium and modification of risk for Huntington disease.. American Journal of Human Genetics. 48:595-603. 1991
- Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease.. American Journal of Human Genetics. 47:4-12. 1990
- Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.. Journal of Medical Genetics. 26:676-681. 1989