American Journal of Medical Genetics, Part A

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VARIBLE OROFACIAL CLEFTING AND CONGENTIAL MALFORMATIONS IN A FAMILY OF CHARGE SYDROME 2020
ARMFIELD XLID SYNDROME HAS A DISTINCT PHENOTYPE (SHORT STATURE, SMALL HANDS/ FEET, OCULAR ANOMALIES, SEIZURES), RESULTS FROM MUTATIONS IN FAM50A, AND IS A SPLICEOSOMOPATHY 2019
IDENTIFICATION OF A UNIQUE DNA METHYLATION SIGNATURE ASSOCIATED WITH NICOLAIDES-BARAITSER SYNDROME 2019
MUTATIONS IN EBF3 DISTURB TRANSCRIPTIONAL PROFILES AND UNDERLIE A NOVEL SYNDROME OF INTELLECTUAL DISABILITY, ATAXIA AND FACIAL DYSMORPHISM 2018
PARASPINAL AND INTRA-ABDOMINAL NEUROFIBROMAS ASSOCIATED WITH SOS2 GENE MUTATION IN A PATIENT WITH NOONAN SYNDROME 2018
A SPECIFIC DNA METHYLATION (DNAm) SIGNATURE ASSOCIATED WITH NSD1(+/-) MUTATIONS IN SOTOS SYNDROME 2015
A potential role for brain derived neurotrophic factor (BDNF) in adult ADHD 2004
An integrative database for genetic epidemiological studies 2004
Association study of the G72 and D-amino-acid oxidase (DAAO) genes in schizophrenia 2004
Ethical issues and informed consent in psychiatric genetic research. 1997
Reliability, accuracy, and predictors of diagnostic disagreements of a best-estimate diagnostic procedure in family studies. 1997
The NIMH genetics initiative: A new scientific resource. 1997
Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1). 194:e63833. 2024
Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.. e63864. 2024
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. 194:e63590. 2024
Correspondence: Perspectives on the future of dysmorphology. 191:2252-2253. 2023
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. 185:2417-2433. 2021
SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1. 185:1091-1097. 2021
Dual molecular diagnoses in a neurometabolic specialty clinic. 185:766-773. 2021
Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population. 185:486-499. 2021
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review. 182:484-492. 2020
Dental abnormalities in individuals with pathogenic germline variation in DICER1. 179:1820-1825. 2019
Cover Image, Volume 176A, Number 4, April 2018. 176. 2018
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. 176:925-935. 2018
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. 176:399-403. 2018
Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome. 173:2947-2953. 2017
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. 173:2725-2730. 2017
Normal IQ is possible in Smith‐Lemli‐Opitz syndrome. 173:2097-2100. 2017
Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing. 173:1994-1995. 2017
A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene. 173:126-134. 2017
The natural history of a clinical geneticist. 170:2591-2593. 2016
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. 170:1070-1075. 2016
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study. 167:2272-2281. 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 167:296-312. 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. 167:180-184. 2015
Narrative medicine: A call to pens. 161:2117-2118. 2013
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44. 161:2016-2019. 2013
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C. 161:2020-2023. 2013
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. 161:1833-1852. 2013
Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature. 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. 161:913-915. 2013
Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability. 158A:1832-1836. 2012
Narrative medicine in clinical genetics practice. 158A:1941-1947. 2012
Germline mosaicism in Cornelia de Lange syndrome. 158A:1481-1485. 2012
Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype. 158A:1020-1028. 2012
Potential teratogenic effects of allopurinol: A case report. 155:2247-2252. 2011
A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features. 152A:2939-2941. 2010
A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21). 152A:2339-2341. 2010
Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases. 152A:2029-2033. 2010
Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. 152A:2142-2142. 2010
The blemmy: A medieval grotesque inspired by iniencephaly?. 152A:1583-1585. 2010
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome. 152A:333-339. 2010
The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature. 152A:472-478. 2010
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. 152A:262-263. 2010
4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations. 149A:2274-2279. 2009
Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients. 149A:372-379. 2009
Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. 146A:354-360. 2008
Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients. 143A:2981-3008. 2007
Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. 143A:3010-3015. 2007
Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy. 143A:2744-2746. 2007
De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome. 143A:1799-1801. 2007
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.. 143A:853-857. 2007
Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases. 143A:853-857. 2007
Risk factors for poor bone health in adolescents and adults with CHARGE syndrome. 143A:839-845. 2007
Unusual dicentric chromosome 22 associated with a 22q13 deletion. 140A:2819-2823. 2006
Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. 140A:2349-2354. 2006
DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?. 140A:2057-2062. 2006
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. 140A:1909-1914. 2006
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. 140A:509-514. 2006
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. 137A:153-160. 2005
Pregnancy in a healthy woman with untreated citrullinemia. 129A:77-82. 2004
Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene. 128A:95-97. 2004
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 125A:310-314. 2004
Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome. 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. 125A:73-76. 2004
Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation. 124A:372-376. 2004
Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification. 123A:179-182. 2003
De novo 1q32q44 duplication and distal 1q trisomy syndrome. 120A:229-233. 2003
Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome. 120A:305-307. 2003
Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans. 120A:139-141. 2003
Erratum: Caruncle abnormalities in the oculo-auriculovertebral spectrum (American Journal of Medical Genetics (2002) 113 (320-325)). 118 A:304. 2003
Nijhawan N, Morad Y, Seigel‐Bartlet J, Levin AV. 2002. Caruncle abnormalities in the oculo‐auriculo‐vertebral spectrum. Am J Med Genet 113:320–325.. 118A:304-304. 2003
Caruncle abnormalities in the oculo-auriculo-vertebral spectrum.. 113:320-325. 2002
Caruncle abnormalities in the oculo‐auriculo‐vertebral spectrum. 113:320-325. 2002
A risk‐factor model of epistatic interaction, focusing on autism. 114:558-565. 2002
Autism and the X chromosome: No linkage to microsatellite loci detected using the affected sibling pair method. 109:36-41. 2002
Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype. 108:64-68. 2002
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. 103:223-225. 2001
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype. 103:75-80. 2001
Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome. 102:383-386. 2001
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. 102:387-388. 2001
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. 102:18-20. 2001
Cranial and hand skeleton in fragile X syndrome. 100:156-161. 2001
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. 100:162-163. 2001
Genetically determined low maternal serum dopamine ?-hydroxylase levels and the etiology of autism spectrum disorders. 100:30-36. 2001
Mitochondria, oxygen free radicals, and apoptosis. 106:62-70. 2001
Mouse models for mitochondrial disease. 106:71-93. 2001
Difficult prenatal diagnosis in mild Smith‐Lemli‐Opitz syndrome. 95:396-398. 2000
Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p. 93:285-289. 2000
Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. 91:261-261. 2000
Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. 91:261-266. 2000
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. 91:167-167. 2000
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. 91:167-170. 2000
Ring chromosome 22 and autism: Report and review. 90:382-382. 2000
Ring chromosome 22 and autism: Report and review. 90:382-385. 2000
Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus. 87:226-229. 1999
Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome. 87:78-81. 1999
Achondroplasia–hypochondroplasia complex in a newborn infant. 84:396-400. 1999
De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion. 84:116-119. 1999
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. 78:419-423. 1998
Genome‐wide search for schizophrenia susceptibility loci: The NIMH genetics initiative and millennium consortium. 81:275-281. 1998
NIMH genetics initiative millennium schizophrenia consortium: Linkage analysis of African‐American pedigrees. 81:282-289. 1998
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. 78:118-122. 1998
Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism. 77:306-309. 1998
Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism. 77:306-309. 1998
Central nervous system malformations in ethylmalonic encephalopathy. 75:292-296. 1998
Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. 69:400-405. 1997
Limb defects in homozygous α-thalassemia: Report of three cases. 68:162-167. 1997
Hirschsprung disease, postaxial polydactyly, and atrial septal defect. 68:74-75. 1997
Nonfamiliality of the sex ratio in autism. 67:499-500. 1996
A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots. 64:313-318. 1996
Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders. 64:399-403. 1996
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. 64:420-423. 1996
Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population. 64:424-427. 1996
High phenotypic correlations among siblings with autism and pervasive developmental disorders. 67:354-360. 1996
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). 64:89-96. 1996
The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy. 62:404-409. 1996
Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome. 58:277-281. 1995
Parents and collateral relatives of children with pervasive developmental disorders: A family history study. 60:282-289. 1995
Discordant fibular aplasia in twins. 55:225-228. 1995
Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: No association with Schizophrenia. 54:384-390. 1994
Psychiatric genetic research at the National Institute of Mental Health. 54:295-299. 1994
Fanconi anemia in a child previously diagnosed as Baller‐Gerold syndrome. 50:98-99. 1994
Legal and ethical issues in psychiatric genetic research. 48:17-21. 1993
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency. 45:631-637. 1993
Fetal and neonatal outcome of exposure to anticoagulants during pregnancy. 45:17-21. 1993
Diagnosis of arylsulfatase A deficiency. 43:976-982. 1992
Baller‐Gerold syndrome associated with congenital hydrocephalus. 40:307-310. 1991
Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. 33:10-13. 1989
Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis. 29:9-19. 1988
Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere‐FRA(X)‐DXS15‐DXS52‐F8C‐telomere. 26:751-760. 1987
Abdominal distension in Kaufman‐McKusick syndrome. 25:205-210. 1986
An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis. 23:665-683. 1986
Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling. 18:45-53. 1984
The fragile‐X syndrome, IV. Progress towards the identification of linked restriction fragment length variants (RFLVs). 17:259-273. 1984
Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly”. 9:67-73. 1981
The usefulness of chromosome banding in pre‐ and postnatal service cytogenetics: A reconsideration. 9:79-85. 1981
COL4A2‐Related Disorder Presenting in Adulthood With Rhabdomyolysis

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