American Journal of Medical Genetics, Part A
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Overview
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VARIBLE OROFACIAL CLEFTING AND CONGENTIAL MALFORMATIONS IN A FAMILY OF CHARGE SYDROME
2020
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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
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IDENTIFICATION OF A UNIQUE DNA METHYLATION SIGNATURE ASSOCIATED WITH NICOLAIDES-BARAITSER SYNDROME
2019
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MUTATIONS IN EBF3 DISTURB TRANSCRIPTIONAL PROFILES AND UNDERLIE A NOVEL SYNDROME OF INTELLECTUAL DISABILITY, ATAXIA AND FACIAL DYSMORPHISM
2018
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PARASPINAL AND INTRA-ABDOMINAL NEUROFIBROMAS ASSOCIATED WITH SOS2 GENE MUTATION IN A PATIENT WITH NOONAN SYNDROME
2018
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A SPECIFIC DNA METHYLATION (DNAm) SIGNATURE ASSOCIATED WITH NSD1(+/-) MUTATIONS IN SOTOS SYNDROME
2015
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A potential role for brain derived neurotrophic factor (BDNF) in adult ADHD
2004
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An integrative database for genetic epidemiological studies
2004
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Association study of the G72 and D-amino-acid oxidase (DAAO) genes in schizophrenia
2004
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Ethical issues and informed consent in psychiatric genetic research.
1997
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Reliability, accuracy, and predictors of diagnostic disagreements of a best-estimate diagnostic procedure in family studies.
1997
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The NIMH genetics initiative: A new scientific resource.
1997
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Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature..
e63864.
2024
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Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1).
e63833.
2024
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Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
194:e63590.
2024
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Correspondence: Perspectives on the future of dysmorphology.
191:2252-2253.
2023
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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
185:2417-2433.
2021
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SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1.
185:1091-1097.
2021
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Dual molecular diagnoses in a neurometabolic specialty clinic.
185:766-773.
2021
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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
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Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review.
182:484-492.
2020
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Dental abnormalities in individuals with pathogenic germline variation in DICER1.
179:1820-1825.
2019
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Cover Image, Volume 176A, Number 4, April 2018.
176.
2018
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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome.
176:925-935.
2018
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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
176:399-403.
2018
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Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome.
173:2947-2953.
2017
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De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
173:2725-2730.
2017
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Normal IQ is possible in Smith‐Lemli‐Opitz syndrome.
173:2097-2100.
2017
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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
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A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene.
173:126-134.
2017
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The natural history of a clinical geneticist.
170:2591-2593.
2016
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Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
170:1070-1075.
2016
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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
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
167:296-312.
2015
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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
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Narrative medicine: A call to pens.
161:2117-2118.
2013
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Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
161:2016-2019.
2013
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Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.
161:2020-2023.
2013
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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
161:1833-1852.
2013
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Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature.
161:1126-1131.
2013
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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
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Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.
158A:1832-1836.
2012
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Narrative medicine in clinical genetics practice.
158A:1941-1947.
2012
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Germline mosaicism in Cornelia de Lange syndrome.
158A:1481-1485.
2012
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Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype.
158A:1020-1028.
2012
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Potential teratogenic effects of allopurinol: A case report.
155:2247-2252.
2011
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Poland anomaly and hydranencephaly: An unusual association.
152A:3182-3184.
2010
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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
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A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21).
152A:2339-2341.
2010
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Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases.
152A:2029-2033.
2010
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Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.
152A:2142-2142.
2010
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The blemmy: A medieval grotesque inspired by iniencephaly?.
152A:1583-1585.
2010
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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome.
152A:333-339.
2010
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The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature.
152A:472-478.
2010
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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
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4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations.
149A:2274-2279.
2009
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Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients.
149A:372-379.
2009
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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
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Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients.
143A:2981-3008.
2007
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Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
143A:3010-3015.
2007
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Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy.
143A:2744-2746.
2007
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De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome.
143A:1799-1801.
2007
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Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases..
143A:853-857.
2007
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Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases.
143A:853-857.
2007
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Risk factors for poor bone health in adolescents and adults with CHARGE syndrome.
143A:839-845.
2007
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Unusual dicentric chromosome 22 associated with a 22q13 deletion.
140A:2819-2823.
2006
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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
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DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?.
140A:2057-2062.
2006
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Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
140A:1909-1914.
2006
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Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
140A:509-514.
2006
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Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia.
137A:153-160.
2005
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Pregnancy in a healthy woman with untreated citrullinemia.
129A:77-82.
2004
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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
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Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
125A:310-314.
2004
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Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome.
125A:173-176.
2004
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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
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Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.
124A:372-376.
2004
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Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification.
123A:179-182.
2003
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De novo 1q32q44 duplication and distal 1q trisomy syndrome.
120A:229-233.
2003
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Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome.
120A:305-307.
2003
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Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans.
120A:139-141.
2003
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Erratum: Caruncle abnormalities in the oculo-auriculovertebral spectrum (American Journal of Medical Genetics (2002) 113 (320-325)).
118 A:304.
2003
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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
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Caruncle abnormalities in the oculo-auriculo-vertebral spectrum..
113:320-325.
2002
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Caruncle abnormalities in the oculo‐auriculo‐vertebral spectrum.
113:320-325.
2002
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A risk‐factor model of epistatic interaction, focusing on autism.
114:558-565.
2002
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Autism and the X chromosome: No linkage to microsatellite loci detected using the affected sibling pair method.
109:36-41.
2002
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Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype.
108:64-68.
2002
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Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
103:223-225.
2001
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Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype.
103:75-80.
2001
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Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome.
102:383-386.
2001
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Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome.
102:387-388.
2001
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Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.
102:18-20.
2001
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Cranial and hand skeleton in fragile X syndrome.
100:156-161.
2001
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DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
100:162-163.
2001
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Genetically determined low maternal serum dopamine ?-hydroxylase levels and the etiology of autism spectrum disorders.
100:30-36.
2001
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Mitochondria, oxygen free radicals, and apoptosis.
106:62-70.
2001
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Mouse models for mitochondrial disease.
106:71-93.
2001
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Difficult prenatal diagnosis in mild Smith‐Lemli‐Opitz syndrome.
95:396-398.
2000
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Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p.
93:285-289.
2000
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Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.
91:261-261.
2000
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Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.
91:261-266.
2000
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Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
91:167-167.
2000
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Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.
91:167-170.
2000
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Ring chromosome 22 and autism: Report and review.
90:382-382.
2000
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Ring chromosome 22 and autism: Report and review.
90:382-385.
2000
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Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus.
87:226-229.
1999
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Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome.
87:78-81.
1999
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Achondroplasia–hypochondroplasia complex in a newborn infant.
84:396-400.
1999
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De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion.
84:116-119.
1999
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Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.
78:419-423.
1998
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Genome‐wide search for schizophrenia susceptibility loci: The NIMH genetics initiative and millennium consortium.
81:275-281.
1998
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NIMH genetics initiative millennium schizophrenia consortium: Linkage analysis of African‐American pedigrees.
81:282-289.
1998
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Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.
78:118-122.
1998
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Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.
77:306-309.
1998
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Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.
77:306-309.
1998
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Central nervous system malformations in ethylmalonic encephalopathy.
75:292-296.
1998
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Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions.
69:400-405.
1997
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Limb defects in homozygous α-thalassemia: Report of three cases.
68:162-167.
1997
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Hirschsprung disease, postaxial polydactyly, and atrial septal defect.
68:74-75.
1997
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Nonfamiliality of the sex ratio in autism.
67:499-500.
1996
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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
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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
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Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities.
64:420-423.
1996
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Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population.
64:424-427.
1996
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High phenotypic correlations among siblings with autism and pervasive developmental disorders.
67:354-360.
1996
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Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).
64:89-96.
1996
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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
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Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome.
58:277-281.
1995
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Parents and collateral relatives of children with pervasive developmental disorders: A family history study.
60:282-289.
1995
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Discordant fibular aplasia in twins.
55:225-228.
1995
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Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: No association with Schizophrenia.
54:384-390.
1994
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Psychiatric genetic research at the National Institute of Mental Health.
54:295-299.
1994
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Fanconi anemia in a child previously diagnosed as Baller‐Gerold syndrome.
50:98-99.
1994
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Legal and ethical issues in psychiatric genetic research.
48:17-21.
1993
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Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
45:631-637.
1993
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Fetal and neonatal outcome of exposure to anticoagulants during pregnancy.
45:17-21.
1993
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Diagnosis of arylsulfatase A deficiency.
43:976-982.
1992
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Baller‐Gerold syndrome associated with congenital hydrocephalus.
40:307-310.
1991
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Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.
33:10-13.
1989
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Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis.
29:9-19.
1988
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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
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Abdominal distension in Kaufman‐McKusick syndrome.
25:205-210.
1986
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An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis.
23:665-683.
1986
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Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling.
18:45-53.
1984
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The fragile‐X syndrome, IV. Progress towards the identification of linked restriction fragment length variants (RFLVs).
17:259-273.
1984
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Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly”.
9:67-73.
1981
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The usefulness of chromosome banding in pre‐ and postnatal service cytogenetics: A reconsideration.
9:79-85.
1981
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