American Journal of Medical Genetics Part A
Publication Venue For
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
Near complete deletion of KMT2D in a college student
Neuropsychiatric features of Prader–Willi syndrome
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics
Variable clinical severity in TANGO2 deficiency: Case series and literature review
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome
The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
Choose your words carefully
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Phenotypic features in MECP2 duplication syndrome: Effects of age
The duty to warn at-risk relatives—The experience of genetic counselors and medical geneticists
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics
From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C
Schaaf-Yang syndrome overview: Report of 78 individuals
Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy
Foramen magnum compression in Coffin–Lowry syndrome: A case report
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1
Creation of an international registry to support discovery in schwannomatosis
Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
Respiratory system involvement in Costello syndrome
Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention
Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis
Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach
Partial trisomy 21: A fifty-year follow-up visit
Sex-discordant monochorionic twins with blood and tissue chimerism
Update from the 2013 international neurofibromatosis conference
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies
Erratum to Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome [Am J Med Genet Part A, 161A, (2014) 1638-1646]
Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers
Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria
Utilizing high-fidelity crucial conversation simulation in genetic counseling training
Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome
. 158 A:1195-1199.
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2
. 158 A:24-41.
The mall test (or fun with a dysmorphologist)
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR
Back to the future: Proceedings from the 2010 NF Conference
IRF6 mutations in mixed isolated familial clefting
. 152 A:3107-3109.
Further delineation of the Kapur-Toriello syndrome
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1
Distal 22q11.2 microduplication encompassing the BCR gene
Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?
Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
Fear of health insurance loss among individuals at risk for Huntington disease
Additional EFNB1 mutations in craniofrontonasal syndrome
A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics
The use by alabama pediatricians of genetics consultation in the evaluation of developmental delay
Fine-Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance
A previously unrecognized microdeletion syndrome on chromosome 22 Band q11.2 encompassing the BCR Gene
Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
Whole genome microarray analysis of gene expression in Prader-Willi syndrome
Molecular basis of human dentin diseases
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
Impact of neurofibromatosis 1 on quality of life: A cross-sectional study of 176 American cases
Autism spectrum disorder in fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal
Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)
Erratum: Parkin mutation analysis in clinic patients with early-onset Parkinson's disease (American Journal of Medical Genetics (2004) 129A (44-50) DOI: 10.1002/ajmg.a.30157)
. 139 A:56.
Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence
. 137 A:298-301.
Neurofibromatosis-Noonan Syndrome: Molecular evidence of the concurrence of both disorders in a patient
. 136 A:242-245.
An interstitial deletion of chromosome 7 at band q21: A case report and review
. 134 A:12-23.
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism
. 133 A:138-141.
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III
. 132 A:305-309.
Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors
. 129 A:225-234.
parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease.
parkin mutation analysis in clinic patients with early-onset Parkinson's disease
. 129 A:44-50.
Cardiomyopathy in Coffin-Lowry syndrome
. 128 A:176-178.
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
. 128 A:120-126.
Cohen syndrome in the Ohio Amish
. 128 A:23-28.
Congenital Diaphragmatic Hernia: Is 15q26.1-26.2 a Candidate Locus?
. 126 A:183-185.
Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?
Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett Syndrome
. 126 A:129-140.
Social Behavior Profile in Young Males with Fragile X Syndrome: Characteristics and Specificity
. 126 A:9-17.
A New Type of Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda
. 125 A:49-56.
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.
Commentary on Robin's A Smile, and the Need for Counseling Skills in the Clinic  (multiple letters)
. 126 A:437-438.
Deletion of the SLUG (SNAI2) gene results in human piebaldism
. 122 A:125-132.
Deletion of the SLUG (SNAI2) gene results in human piebaldism.
Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases
. 122 A:63-69.
Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?
. 121 A:118-125.
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?
Medical geneticists' duty to warn at-risk relatives for genetic disease
. 120 A:374-380.
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
. 119 A:279-282.
Chiari I malformation and cloacal exstrophy: Report of a patient with both defects of blastogenesis
. 119 A:231-233.
Chiari I malformation and cloacal exstrophy: report of a patient with both defects of blastogenesis.
Genetic drift. A few moments.
Genetic drift. A smile.
Onset age of Parkinson disease  (multiple letters)
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene
Segregation analysis of Parkinson disease revealing evidence for a major causative gene
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
Mixed clefting type in Rapp-Hodgkin syndrome.
Age at onset of Parkinson disease and apolipoprotein E genotypes
Distal 5q deletion syndrome: Phenotypic correlations
Diagnosis of FS should not be made until PKS is ruled out  (multiple letters)
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation
Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: Overlap with Coffin-Lowry syndrome
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
Discordant phenotype in monozygotic twins with Fryns syndrome
Fronto-Ocular syndrome: Newly recognized trigonocephaly syndrome
Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop
Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites
Role of amniotic fluid homocysteine level and of fetal 5,10- methylenetetrahydrafolate reductase genotype in the etiology of neural tube defects
Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes
Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance
Clinical and molecular studies of brachydactyly type D
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma
Segregation analysis of Parkinson disease
Nonpenetrance in FGFR3-associated coronal synostosis syndrome 
Severe oculocerebrocutaneous (Delleman) syndrome: Overlap with goldenhar anomaly
Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly
Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss
Complex familial rearrangement of chromosome 9p24.3 detected by FISH
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification
Disorganization in mice and humans and its relation to sporadic birth defects
Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles
Rapid publication clinical and locus heterogeneity in brachydactyly type C
Quantitative, trait loci fcr alcohol withdrawal symptoms: A sex-specific approach using recombinant inbred and F-2 design.
Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes.
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
Duplication 14(q24.3q31) in a Father and daughter: Delineation of a possible imprinted region
Long-term impact of Huntington disease linkage testing
Multiple endocrinopathies in an infant with fatal neurodegenerative disease
Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?
Deletion of the entire NF1 gene causing distinct manifestations in a family
Clinical and locus heterogeneity in brachydactyly type C.
Limb anomalies in DiGeorge and CHARGE syndromes
Genetic drift. The awful truth.
Syntelencephaly in an Infant of a Diabetic Mother
Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature
Craniosynostosis, Philadelphia type: A new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes
Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation
Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.
Frontonasal malformation and cloacal exstrophy: A previously unreported association
Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific
The good that we do.
Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases
CHARGE association in a child with de novo inverted duplication (14)(q22→q24.3)
Classical Noonan syndrome is not associated with deletions of 22qll
Deletion of the entire NF1 gene detected by fish: Four deletion patients associated with severe manifestations
Preliminary phenotypic map of chromosome 4p16 based on 4p deletions
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome
Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder
Non-immune hydrops fetalis associated with impaired fetal movement: A case report and review
Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome
National Neurofibromatosis Foundation International Database
New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations
Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: A new autosomal recessive syndrome or a variant of Fraser syndrome?
Galactose metabolism and reproductive history in women with type 1 neurofibromatosis
Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
Understanding the decision to take the predictive test for Huntington disease
A de novo X;3 translocation in Rett syndrome
Estimation of fertility and fitness in Huntington disease in New England
Aneuploidy and the fragile X syndrome
Attitudes toward presymptomatic testing in Huntington disease
A major gene model for the familial aggregation of plasma IgA concentration
Change in attitudes toward presymptomatic testing in Huntington disease
Familial aggregation of small congenital nevomelanocytic nevi
Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: Responses to dichloroacetate and benzoate
Potential impact of a predictive test on the gene frequency of Huntington disease
Recombination between the fragile X and G6PD.
Tetraploidy: A report of three live-born infants
Prenatal diagnosis of congenital adrenal hyperplasia
International Standard Serial Number (issn)
Electronic International Standard Serial Number (eissn)