selected scholarly activity
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conferences
- The incidence of Smith-Lemli-Opitz Syndrome (SLOS) in Ontario, Canada.. American Journal of Human Genetics. 278-278. 2000
- Achondroplasia-Hypochondroplasia Complex in a newborn.. American Journal of Human Genetics. A101-A101. 1997
- CAVEATS TO GENETIC-COUNSELING FOR DISEASES WITH DYNAMIC MUTATIONS - MYOTONIC-DYSTROPHY AT ON EXAMPLE. American Journal of Human Genetics. 1624-1624. 1995
- EXPRESSION STUDIES OF 2 MISSENSE MUTATIONS IN BETA-GALACTOSIDASE THAT RESULT IN GM1-GANGLIOSIDOSIS. American Journal of Human Genetics. 1028-1028. 1995
- VITAMIN-B12 DEFICIENCY IN A BREAST-FED INFANT SECONDARY TO MATERNAL LATENT PERNICIOUS-ANEMIA. Blood. A117-A117. 1994
- CARNITINE INSUFFICIENCY ASSOCIATED WITH MEDIUM CHAIN COA DEHYDROGENASE (MCAD) DEFICIENCY IN SIBLINGS. The FASEB Journal. 1182-1182. 1987
- COMPREHENSIVE INTELLECTUAL AND BEHAVIORAL-ASSESSMENT OF PKU CHILDREN - IMPLICATIONS FOR MANAGEMENT. Clinical and Investigative Medicine. A140-A140. 1986
- ANTENATAL DIAGNOSIS OF GLUTARIC ACIDEMIA. American Journal of Human Genetics. A49-A49. 1979
- INVESTIGATION OF A PATIENT WITH L-GLUTARIC ACIDEMIA. Clinical Research. A691-A691. 1977
- NEW INVITRO VARIANT OF METHYLMALONIC ACIDEMIA (MM-EMIA). American Journal of Human Genetics. A79-A79. 1977
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journal articles
- No evidence of paternal transmission of fragile X syndrome. American Journal of Medical Genetics, Part A. 136A:107-108. 2005
- Response to letter: “No evidence of paternal transmission of fragile X syndrome” by Doris and Peter Steinbach. American Journal of Medical Genetics, Part A. 136A:109-110. 2005
- Paternal transmission of fragile X syndrome. American Journal of Medical Genetics, Part A. 129A:184-189. 2004
- Pregnancy in a healthy woman with untreated citrullinemia. American Journal of Medical Genetics, Part A. 129A:77-82. 2004
- Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature. American Journal of Medical Genetics, Part A. 125A:73-76. 2004
- Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification. American Journal of Medical Genetics, Part A. 123A:179-182. 2003
- 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
- Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada. American Journal of Medical Genetics, Part A. 116A:101-101. 2003
- Reply to correspondence from Martínez‐Frías et al.—“Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada”. American Journal of Medical Genetics, Part A. 116A:102-102. 2003
- Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease. Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1588:247-253. 2002
- Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision‐making. American Journal of Medical Genetics, Part A. 107:247-249. 2002
- Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature. American Journal of Medical Genetics, Part A. 107:222-226. 2002
- Erratum. American Journal of Medical Genetics, Part A. 104:184-184. 2001
- Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. American Journal of Medical Genetics, Part A. 102:18-20. 2001
- Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure. Journal of Inherited Metabolic Disease. 23:188-9. 2000
- Absence of congemla1 myotomc dystrophy (CDM) in a baby wth 1000 DMPK CTG repeats born afler a slblmg with CDM. Genetics in Medicine. 2:62-62. 2000
- Detection of a de novo mutation in a family with SMA Type I: The importance of dosage testing. Genetics in Medicine. 2:106-106. 2000
- Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.. CANADIAN MEDICAL ASSOCIATION JOURNAL. 161:165-170. 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
- A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus‐Merzbacher disease. Clinical Genetics. 54:248-249. 1998
- Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. American Journal of Medical Genetics, Part A. 78:419-423. 1998
- Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency. Molecular Genetics and Metabolism. 63:254-262. 1998
- Risk Reversals in Predictive Testing for Huntington Disease. American Journal of Human Genetics. 61:945-952. 1997
- Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.. Journal of Medical Genetics. 33:856-862. 1996
- Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty. European Journal of Human Genetics. 4:153-159. 1996
- Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease. American Journal of Medical Genetics, Part A. 58:59-69. 1995
- Profound thrombocytopenia complicating dietary erucic acid therapy for adrenoleukodystrophy. American Journal of Hematology. 48:132-133. 1995
- Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease. Human Mutation. 5:269-271. 1995
- Proceed with care: direct predictive testing for Huntington disease.. American Journal of Human Genetics. 55:606-617. 1994
- Fryns syndrome: A rare familial cause of congenital diaphragmatic hernia. Journal of Pediatric Surgery. 29:1266-1267. 1994
- Molecular diagnosis of phenylketonuria. Journal of the International Federation of Clinical Chemistry. 3:58-65. 1991
- Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium‐chain Acyl‐CoA Dehydrogenase Deficiency. Journal of Inherited Metabolic Disease. 12:325-328. 1989
- Coping with dietary therapy in phenylketonuria: A case report.. Canadian Journal of Behavioural Science. 20:461-466. 1988
- Experimental hyperphenylalaninemia in the pregnant guinea pig: Possible phenylalanine teratogenesis and p‐chlorophenylalanine embryotoxicity. Birth Defects Research Part A: Clinical and Molecular Teratology. 36:245-258. 1987
- Excretion of Dicarboxylic and ω-1 Hydroxy Fatty Acids by Low Birth Weight Infants Fed with Medium-Chain Triglycerides. Pediatric Research. 20:122-125. 1986
- Mass spectrometry and clinical chemistry. Clinica Chimica Acta. 139:231-294. 1984
- Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment. Clinica Chimica Acta. 132:301-308. 1983
- Mucolipidosis II. The clinical, radiological and biochemical features in three cases. Clinical Genetics. 24:90-96. 1983
- Natural history of the organic acidurias? A call for information. Clinical Genetics. 23:394-394. 1983
- 45,X/46,XX Mosaicism in Discordant Monozygotic Twins. Pediatrics. 71:413-417. 1983
- A rare case of mosaic Down syndrome 46,XY/46,XY, ‐21, +i(21q). Clinical Genetics. 17:271-274. 1980
- MATERNAL HYPERPROLINEMIA. The Lancet. 2:982-983. 1980
- Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.. CANADIAN MEDICAL ASSOCIATION JOURNAL. 120:1230-1235. 1979
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l -Glutaric Acidemia: Investigation of a Patient and His Family. Pediatrics. 63:88-93. 1979 - A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts. Clinica Chimica Acta. 85:67-72. 1978
- Citrullinemia: Phenotypic Variations. Pediatrics. 57:935-941. 1976
- The oro‐facial‐digital syndrome. Clinical Genetics. 8:205-212. 1975
- Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia. Molecular Genetics and Metabolism. 9:19-31. 1974
- A γ-aminobutyrate pathway in mammalian kidney cortex☆. Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 297:229-240. 1973
- VITAMIN D DEPENDENCY: AN INHERITED POSTNATAL SYNDROME WITH SECONDARY HYPERPARATHYROIDISM. Pediatrics. 46:871-880. 1970
- Cystinuria: Increased Prevalence in Patients with Mental Disease. New England Journal of Medicine. 283:783-786. 1970
- Glutamic Acid Decarboxylase and Gamma-aminobutyric Acid in Mammalian Kidney. Nature. 224:916-917. 1969
- Urine Screening for Disorders of Mucopolysaccharide Metabolism. Pediatrics. 44:768-769. 1969
- Variability of the de Lange syndrome: Report of 3 cases and genetic analysis of 54 families. Journal of Pediatrics. 75:853-858. 1969
- GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B6 DEPENDENCY WITH SEIZURES*. Annals of the New York Academy of Sciences. 166:83-96. 1969
- Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34]. Pediatric Research. 2:525-534. 1968
- Cystathioninuria and Renal Iminoglycinuria in a Pedigree. New England Journal of Medicine. 278:924-927. 1968