selected scholarly activity
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conferences
- CK syndrome: another glimpse of neurodevelopmental regulation by cholesterol biosynthesis. Molecular Genetics and Metabolism. 281-282. 2012
- Alu-mediated deletions and point mutations within the FOX transcription factor gene cluster on 16q24.1 result in alveolar capillary dysplasia/misalignment of pulmonary veins and multiple congenital ma. Chromosome Research. 186-186. 2009
- Multidisciplinary study of in utero presentation of fetal GM1 gangliosidosis at 17 weeks gestation.. Molecular Genetics and Metabolism. 242-242. 2007
- Ten new patients with malonyl-coenzyme a decarboxylase (MCD) deficiency. Journal of Inherited Metabolic Disease. 34-34. 2006
- Six new patients with malonyl-CoA decarboxylase (MCD) deficiency: expanding the phenotypic heterogeneity.. Molecular Genetics and Metabolism. 219-220. 2005
- Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program.. Genetics in Medicine. 306-306. 2004
- Bacteriophage interactions with T cells and platelets. IMMUNOLOGY 2004: CYTOKINE NETWORK, REGULATORY CELLS, SIGNALING, AND APOPTOSIS. 189-193. 2004
- Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies.. American Journal of Human Genetics. 307-307. 2003
- Prenatal level II mosaic marker representing true fetal mosaicism: What is the lesson?. American Journal of Human Genetics. 304-304. 2003
- Serum cholesterol and suicidality in Smith-Lemli-Opitz syndrome heterozygotes. American Journal of Human Genetics. 519-519. 2003
- Carrier frequency of the Smith-Lemli-Opitz IVS8-1GC mutation of the DHCR7 gene in African Americans.. American Journal of Human Genetics. 286-286. 2002
- Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients.. American Journal of Human Genetics. 428-428. 2002
- Molecular, biochemical and clinical aspects of Smith-Lemli-Opitz syndrome in Cuban patients.. American Journal of Human Genetics. 428-428. 2002
- An adjacent-2 segregation in a balanced familial t(9;15)(q32;q13) with a large centric segment.. American Journal of Human Genetics. 323-323. 2001
- Cornelia de Lange syndrome - Prenatal manifestations: Report of four cases.. American Journal of Human Genetics. 657-657. 2001
- Molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis.. American Journal of Human Genetics. 304-304. 2001
- Pallister-Killian syndrome due to a novel chromosome abnormality: A case of 12p intrachromosomal triplication.. American Journal of Human Genetics. 317-317. 2001
- Severe knee hyperextension in a fetus with trisomy 21: Association or coincidence?. American Journal of Human Genetics. 668-668. 2001
- Direct duplication of 4p14p15.31.. American Journal of Human Genetics. A363-A363. 1999
- Duplication 1q32-q44 and multiple congenital anomalies.. American Journal of Human Genetics. A157-A157. 1999
- 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
- Dysmorphic features, multiple congenital anomalies, and preaxial polydactyly of feet: Diabetic embryopathy or a malformation syndrome?. American Journal of Human Genetics. A152-A152. 1999
- Trisomy 21 and Ebstein Anomaly.. American Journal of Human Genetics. A152-A152. 1999
- Some neurogenetic disorders to consider in the differential diagnosis of developmental disabilities. 16TH ANNUAL CONFERENCE ON THE DAWN OF A NEW ERA: REFLECTING ON THE PAST, MOVING TOWARD THE FUTURE. 162-164. 1999
- CONGENITAL NEPHROTIC SYNDROME AND BRAIN DYSGENESIS - A NEW SYNDROME. American Journal of Human Genetics. 570-570. 1995
- OCULAR MANIFESTATIONS OF JACOBSEN SYNDROME (11Q-). American Journal of Human Genetics. 572-572. 1995
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journal articles
- Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. Journal of Medical Genetics. 55:316-321. 2018
- Normal IQ is possible in Smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, Part A. 173:2097-2100. 2017
- A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene. American Journal of Medical Genetics, Part A. 173:126-134. 2017
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genetics in Medicine. 19:53-61. 2017
- The natural history of a clinical geneticist. American Journal of Medical Genetics, Part A. 170:2591-2593. 2016
- Partial monosomy 1q43 and partial trisomy 20q13.2: a case report. Clinical Dysmorphology. 25:128-132. 2016
- Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis. Clinical Genetics. 89:478-483. 2016
- Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. JCI insight. 1:e85461. 2016
- Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. American Journal of Human Genetics. 98:579-587. 2016
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genetics in Medicine. 17:460-466. 2015
- Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics. 23:292-301. 2015
- De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay. American Journal of Human Genetics. 96:462-473. 2015
- Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. American Journal of Medical Genetics, Part A. 167:180-184. 2015
- Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?. Clinical Genetics. 85:138-146. 2014
- Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation. Pediatric and Developmental Pathology. 17:59-63. 2014
- Narrative medicine: A call to pens. American Journal of Medical Genetics, Part A. 161:2117-2118. 2013
- Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. American Journal of Medical Genetics, Part A. 161:2016-2019. 2013
- 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
- Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature. American Journal of Medical Genetics, Part A. 161:1126-1131. 2013
- Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients. American Journal of Medical Genetics, Part A. 161:913-915. 2013
- Prenatal and Pathologic Features of Aorto-Left Ventricular Tunnel Causing Fetal Hydrops and Intrauterine Demise. Pediatric and Developmental Pathology. 16:97-101. 2013
- The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases. 8:63-63. 2013
- Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. American Journal of Medical Genetics - Seminars in Medical Genetics. 160C:239-241. 2012
- Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology. American Journal of Medical Genetics - Seminars in Medical Genetics. 160C:250-262. 2012
- Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability. American Journal of Medical Genetics, Part A. 158A:1832-1836. 2012
- Narrative medicine in clinical genetics practice. American Journal of Medical Genetics, Part A. 158A:1941-1947. 2012
- Germline mosaicism in Cornelia de Lange syndrome. American Journal of Medical Genetics, Part A. 158A:1481-1485. 2012
- Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype. American Journal of Medical Genetics, Part A. 158A:1020-1028. 2012
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44:440-444. 2012
- Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome. American Journal of Human Genetics. 90:308-313. 2012
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus. Clinical Dysmorphology. 21:48-52. 2012
- Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype. Clinical Dysmorphology. 20:200-204. 2011
- Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases. American Journal of Medical Genetics, Part A. 152A:2029-2033. 2010
- An uncommon 3.4-Mb interstitial deletion at 3q29. Clinical Dysmorphology. 19:133-136. 2010
- The blemmy: A medieval grotesque inspired by iniencephaly?. American Journal of Medical Genetics, Part A. 152A:1583-1585. 2010
- 4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations. American Journal of Medical Genetics, Part A. 149A:2274-2279. 2009
- Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations. American Journal of Human Genetics. 84:780-791. 2009
- Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients. American Journal of Medical Genetics, Part A. 149A:372-379. 2009
- Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics. 45:710-720. 2008
- 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
- De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome. American Journal of Medical Genetics, Part A. 143A:1799-1801. 2007
- Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis. Prenatal Diagnosis. 27:638-640. 2007
- Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency. Journal of Inherited Metabolic Disease. 30:23-28. 2007
- Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia. American Journal of Human Genetics. 79:965-972. 2006
- SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. European Journal of Medical Genetics. 49:499-504. 2006
- DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?. American Journal of Medical Genetics, Part A. 140A:2057-2062. 2006
- Genetic considerations in recurrent congenital diaphragmatic hernia in two siblings. Annals of Saudi Medicine. 26:391-394. 2006
- Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenatal Diagnosis. 26:842-849. 2006
- Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. American Journal of Medical Genetics, Part A. 140A:509-514. 2006
- The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature. Ophthalmic Genetics. 27:1-7. 2006
- Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Human Mutation. 26:59-59. 2005
- DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. Journal of Medical Genetics. 42:350-357. 2005
- Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. Journal of Medical Genetics. 42:328-335. 2005
- DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome. Clinical Genetics. 66:517-524. 2004
- Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers. American Journal of Psychiatry. 161:2123-2126. 2004
- Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance. Journal of Pediatrics. 145:530-535. 2004
- Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene. American Journal of Medical Genetics, Part A. 128A:95-97. 2004
- Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, Part A. 125A:173-176. 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
- De novo 1q32q44 duplication and distal 1q trisomy syndrome. American Journal of Medical Genetics, Part A. 120A:229-233. 2003
- Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, Part A. 120A:305-307. 2003
- Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans. American Journal of Medical Genetics, Part A. 120A:139-141. 2003
- Human Chromosome 7: DNA Sequence and Biology. Science. 300:767-772. 2003
- Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. Journal of Medical Genetics. 39:31e-31. 2002
- Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochemical Journal. 364:157-163. 2002
- Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype. American Journal of Medical Genetics, Part A. 108:64-68. 2002
- DHCR7 and Smith-Lemli-Opitz syndrome.. Clinical and Investigative Medicine. 24:311-317. 2001
- Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 103:223-225. 2001
- Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype. American Journal of Medical Genetics, Part A. 103:75-80. 2001
- Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 102:383-386. 2001
- Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 102:387-388. 2001
- Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. American Journal of Medical Genetics, Part A. 102:18-20. 2001
- The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Clinical Genetics. 59:375-386. 2001
- DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 100:162-163. 2001
- Acute Renal Vein Thrombosis, Oral Contraceptive Use, and Hyperhomocysteinemia. Mayo Clinic proceedings. 76:212-214. 2001
- Difficult prenatal diagnosis in mild Smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, Part A. 95:396-398. 2000
- Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p. American Journal of Medical Genetics, Part A. 93:285-289. 2000
- Anesthetic considerations in Smith-Lemli-Opitz syndrome. Canadian Journal of Anaesthesia. 47:556-561. 2000
- 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
- Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. American Journal of Medical Genetics, Part A. 91:261-266. 2000
- Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure. Journal of Inherited Metabolic Disease. 23:188-9. 2000
- Ring chromosome 22 and autism: Report and review. American Journal of Medical Genetics, Part A. 90:382-385. 2000
- Ring chromosome 22 and autism: Report and review. American Journal of Medical Genetics, Part A. 90:382-382. 2000
- RECURRENT FAMILIAL NEONATAL DEATHS: HEREDITARY SURFACTANT PROTEIN B DEFICIENCY. American Journal of Perinatology. Volume 17:219-224. 2000
- Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus. American Journal of Medical Genetics, Part A. 87:226-229. 1999
- Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome. American Journal of Medical Genetics, Part A. 87:78-81. 1999
- Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.. CANADIAN MEDICAL ASSOCIATION JOURNAL. 161:165-170. 1999
- De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion. American Journal of Medical Genetics, Part A. 84:116-119. 1999
- Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?. Clinical Dysmorphology. 7:263-268. 1998
- Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. American Journal of Medical Genetics, Part A. 78:419-423. 1998
- Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metabolism: Clinical and Experimental. 47:836-839. 1998
- Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. American Journal of Medical Genetics, Part A. 78:118-122. 1998
- Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism. American Journal of Medical Genetics, Part A. 77:306-309. 1998
- Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism. American Journal of Medical Genetics, Part A. 77:306-309. 1998
- Central nervous system malformations in ethylmalonic encephalopathy. American Journal of Medical Genetics, Part A. 75:292-296. 1998
- Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. American Journal of Medical Genetics, Part A. 69:400-405. 1997
- Hirschsprung disease, postaxial polydactyly, and atrial septal defect. American Journal of Medical Genetics, Part A. 68:74-75. 1997
- Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. Journal of Inherited Metabolic Disease. 19:655-660. 1996
- The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy. American Journal of Medical Genetics, Part A. 62:404-409. 1996
- Glaucoma as an early complication of Hurler's disease.. Archives of Disease in Childhood. 63:1091-1093. 1988
- Rehabilitation of communication impairment in dystonia musculorum deformans. Pediatric Neurology. 3:97-100. 1987