American Journal of Medical Genetics Part A

Journal

Publication Venue For

  • The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery.  188:1915-1927. 2022
  • Near complete deletion of KMT2D in a college student.  188:1550-1555. 2022
  • Neuropsychiatric features of Prader–Willi syndrome.  188:1457-1463. 2022
  • Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.  188:1307-1310. 2022
  • Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.  188:1088-1101. 2022
  • Variable clinical severity in TANGO2 deficiency: Case series and literature review.  188:473-487. 2022
  • Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.  185:3916-3923. 2021
  • The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report.  185:3507-3509. 2021
  • A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.  185:2315-2324. 2021
  • TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.  185:2417-2433. 2021
  • Choose your words carefully.  185:1953. 2021
  • Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.  185:1366-1378. 2021
  • Phenotypic features in MECP2 duplication syndrome: Effects of age.  185:362-369. 2021
  • The duty to warn at-risk relatives—The experience of genetic counselors and medical geneticists.  182:314-321. 2020
  • Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.  179:966-977. 2019
  • First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.  179:1091-1097. 2019
  • From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.  179:1098-1106. 2019
  • A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.  176:2791-2797. 2018
  • Schaaf-Yang syndrome overview: Report of 78 individuals.  176:2564-2574. 2018
  • Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.  176:1423-1426. 2018
  • Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.  176:925-935. 2018
  • RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.  173:2557-2561. 2017
  • Foramen magnum compression in Coffin–Lowry syndrome: A case report.  173:1087-1089. 2017
  • Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.  173:647-653. 2017
  • Creation of an international registry to support discovery in schwannomatosis.  173:407-413. 2017
  • Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists.  170:2638-2643. 2016
  • The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.  170:1959-1966. 2016
  • Respiratory system involvement in Costello syndrome.  170:1849-1857. 2016
  • Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention.  170:838-846. 2016
  • Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.  170:260-262. 2016
  • Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.  167:3186-3191. 2015
  • Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6.  167:2533-2540. 2015
  • The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.  167:1741-1746. 2015
  • Partial trisomy 21: A fifty-year follow-up visit.  167:1610-1613. 2015
  • Sex-discordant monochorionic twins with blood and tissue chimerism.  167:872-877. 2015
  • Update from the 2013 international neurofibromatosis conference.  164:2969-2978. 2014
  • Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.  164:516-521. 2014
  • CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.  164:563-578. 2014
  • 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].  164:1346. 2014
  • Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.  161:2105-2107. 2013
  • Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome.  161:2024-2026. 2013
  • Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome.  161:1638-1646. 2013
  • Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.  161:405-416. 2013
  • Utilizing high-fidelity crucial conversation simulation in genetic counseling training.  161:1273-1277. 2013
  • Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome.  158 A:1195-1199. 2012
  • Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.  158 A:24-41. 2012
  • The mall test (or fun with a dysmorphologist).  155:2909. 2011
  • Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.  155:2386-2396. 2011
  • Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.  155:1352-1359. 2011
  • Back to the future: Proceedings from the 2010 NF Conference.  155:307-321. 2011
  • IRF6 mutations in mixed isolated familial clefting.  152 A:3107-3109. 2010
  • Further delineation of the Kapur-Toriello syndrome.  152:1013-1015. 2010
  • Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.  152:438-440. 2010
  • Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.  152:4-24. 2010
  • Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.  149:1661-1677. 2009
  • 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).  149:1375-1381. 2009
  • Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.  149:1516-1522. 2009
  • Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.  149:535-538. 2009
  • Distal 22q11.2 microduplication encompassing the BCR gene.  146:3075-3081. 2008
  • Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.  146:2937-2943. 2008
  • Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?.  146:2308-2311. 2008
  • Constitutional H19 hypermethylation in a patient with isolated cardiac tumor.  146:2126-2129. 2008
  • Fear of health insurance loss among individuals at risk for Huntington disease.  146A:2070-2077. 2008
  • Additional EFNB1 mutations in craniofrontonasal syndrome.  146:2008-2012. 2008
  • A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics.  146:1221-1224. 2008
  • The use by alabama pediatricians of genetics consultation in the evaluation of developmental delay.  146:421-425. 2008
  • Fine-Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance.  143:2576-2580. 2007
  • A previously unrecognized microdeletion syndrome on chromosome 22 Band q11.2 encompassing the BCR Gene.  143:2178-2184. 2007
  • Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).  143:1760-1766. 2007
  • Whole genome microarray analysis of gene expression in Prader-Willi syndrome.  143:430-442. 2007
  • Molecular basis of human dentin diseases.  140:2536-2546. 2006
  • Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation.  140:2416-2425. 2006
  • Impact of neurofibromatosis 1 on quality of life: A cross-sectional study of 176 American cases.  140:1893-1898. 2006
  • Autism spectrum disorder in fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal.  140:1814-1826. 2006
  • Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).  140:1647-1654. 2006
  • 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. 2005
  • Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.  137 A:298-301. 2005
  • Neurofibromatosis-Noonan Syndrome: Molecular evidence of the concurrence of both disorders in a patient.  136 A:242-245. 2005
  • An interstitial deletion of chromosome 7 at band q21: A case report and review.  134 A:12-23. 2005
  • DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism.  133 A:138-141. 2005
  • Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.  132 A:305-309. 2005
  • Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors.  129 A:225-234. 2004
  • parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease..  129A:44-50. 2004
  • parkin mutation analysis in clinic patients with early-onset Parkinson's disease.  129 A:44-50. 2004
  • Cardiomyopathy in Coffin-Lowry syndrome.  128 A:176-178. 2004
  • Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases.  128 A:120-126. 2004
  • Cohen syndrome in the Ohio Amish.  128 A:23-28. 2004
  • Congenital Diaphragmatic Hernia: Is 15q26.1-26.2 a Candidate Locus?.  126 A:183-185. 2004
  • Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?.  126A:183-185. 2004
  • Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett Syndrome.  126 A:129-140. 2004
  • Social Behavior Profile in Young Males with Fragile X Syndrome: Characteristics and Specificity.  126 A:9-17. 2004
  • A New Type of Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda.  125 A:49-56. 2004
  • A new type of autosomal recessive spondyloepiphyseal dysplasia tarda..  125A:49-56. 2004
  • Commentary on Robin's A Smile, and the Need for Counseling Skills in the Clinic [4] (multiple letters).  126 A:437-438. 2004
  • Deletion of the SLUG (SNAI2) gene results in human piebaldism.  122 A:125-132. 2003
  • Deletion of the SLUG (SNAI2) gene results in human piebaldism..  122A:125-132. 2003
  • Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases.  122 A:63-69. 2003
  • Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases..  122A:63-69. 2003
  • Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?.  121 A:118-125. 2003
  • Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?.  121A:118-125. 2003
  • Medical geneticists' duty to warn at-risk relatives for genetic disease.  120 A:374-380. 2003
  • Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.  119 A:279-282. 2003
  • Chiari I malformation and cloacal exstrophy: Report of a patient with both defects of blastogenesis.  119 A:231-233. 2003
  • Chiari I malformation and cloacal exstrophy: report of a patient with both defects of blastogenesis..  119A:231-233. 2003
  • Genetic drift. A few moments..  119:397-399. 2003
  • Genetic drift. A smile..  118:404-406. 2003
  • Onset age of Parkinson disease [9] (multiple letters).  111:459-460. 2002
  • Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.  110:346-352. 2002
  • Segregation analysis of Parkinson disease revealing evidence for a major causative gene.  109:191-197. 2002
  • Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.  108:315-318. 2002
  • Mixed clefting type in Rapp-Hodgkin syndrome..  108:281-284. 2002
  • Age at onset of Parkinson disease and apolipoprotein E genotypes.  107:156-161. 2002
  • Distal 5q deletion syndrome: Phenotypic correlations.  103:63-68. 2001
  • Diagnosis of FS should not be made until PKS is ruled out [2] (multiple letters).  102:306. 2001
  • Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation.  100:85-86. 2001
  • Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: Overlap with Coffin-Lowry syndrome.  95:93-98. 2000
  • Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.  95:108-117. 2000
  • Discordant phenotype in monozygotic twins with Fryns syndrome.  94:42-45. 2000
  • Fronto-Ocular syndrome: Newly recognized trigonocephaly syndrome.  93:89-93. 2000
  • Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.  90:169-172. 2000
  • Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites.  90:6-11. 2000
  • Role of amniotic fluid homocysteine level and of fetal 5,10- methylenetetrahydrafolate reductase genotype in the etiology of neural tube defects.  90:12-16. 2000
  • Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes.  91:8-17. 2000
  • Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance.  86:215-218. 1999
  • Clinical and molecular studies of brachydactyly type D.  85:413-418. 1999
  • Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.  84:413-419. 1999
  • Plexiform neurofibromas.  89:31-37. 1999
  • Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.  82:20-24. 1999
  • Segregation analysis of Parkinson disease.  80:410-417. 1998
  • Nonpenetrance in FGFR3-associated coronal synostosis syndrome [5].  80:296-297. 1998
  • Severe oculocerebrocutaneous (Delleman) syndrome: Overlap with goldenhar anomaly.  78:282-285. 1998
  • Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.  77:188-197. 1998
  • Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss.  76:372-378. 1998
  • Complex familial rearrangement of chromosome 9p24.3 detected by FISH.  76:306-309. 1998
  • Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification.  75:240-244. 1998
  • Disorganization in mice and humans and its relation to sporadic birth defects.  73:425-436. 1997
  • Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles.  73:447-455. 1997
  • Rapid publication clinical and locus heterogeneity in brachydactyly type C.  68:369-377. 1997
  • Quantitative, trait loci fcr alcohol withdrawal symptoms: A sex-specific approach using recombinant inbred and F-2 design..  74:580-580. 1997
  • Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes..  72:354-362. 1997
  • Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.  71:479-485. 1997
  • Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome..  71:479-485. 1997
  • Duplication 14(q24.3q31) in a Father and daughter: Delineation of a possible imprinted region.  71:361-365. 1997
  • Long-term impact of Huntington disease linkage testing.  70:365-370. 1997
  • Multiple endocrinopathies in an infant with fatal neurodegenerative disease.  69:271-279. 1997
  • Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?.  69:348-351. 1997
  • Deletion of the entire NF1 gene causing distinct manifestations in a family.  69:98-101. 1997
  • Clinical and locus heterogeneity in brachydactyly type C..  68:369-377. 1997
  • Limb anomalies in DiGeorge and CHARGE syndromes.  68:179-181. 1997
  • Genetic drift. The awful truth..  71:375-377. 1997
  • Syntelencephaly in an Infant of a Diabetic Mother.  66:433-437. 1996
  • Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype.  65:44-51. 1996
  • Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.  62:305-317. 1996
  • Craniosynostosis, Philadelphia type: A new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.  62:184-191. 1996
  • Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.  62:77-83. 1996
  • Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation..  62:77-83. 1996
  • Frontonasal malformation and cloacal exstrophy: A previously unreported association.  61:75-78. 1996
  • Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific.  67:127-132. 1996
  • The good that we do..  65:257-258. 1996
  • Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases.  55:171-187. 1995
  • CHARGE association in a child with de novo inverted duplication (14)(q22→q24.3).  57:610-614. 1995
  • Classical Noonan syndrome is not associated with deletions of 22qll.  56:94-96. 1995
  • Deletion of the entire NF1 gene detected by fish: Four deletion patients associated with severe manifestations.  59:528-535. 1995
  • Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.  57:581-586. 1995
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.  52:97-102. 1994
  • Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder.  51:114-120. 1994
  • Non-immune hydrops fetalis associated with impaired fetal movement: A case report and review.  53:251-254. 1994
  • Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.  45:97-100. 1993
  • National Neurofibromatosis Foundation International Database.  45:88-91. 1993
  • New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma.  47:852-856. 1993
  • Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations.  43:662-668. 1992
  • Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: A new autosomal recessive syndrome or a variant of Fraser syndrome?.  40:377-382. 1991
  • Galactose metabolism and reproductive history in women with type 1 neurofibromatosis.  39:502-508. 1991
  • Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension.  40:183-187. 1991
  • Understanding the decision to take the predictive test for Huntington disease.  39:404-410. 1991
  • A de novo X;3 translocation in Rett syndrome.  35:148-151. 1990
  • Estimation of fertility and fitness in Huntington disease in New England.  33:248-254. 1989
  • Aneuploidy and the fragile X syndrome.  30:115-121. 1988
  • Attitudes toward presymptomatic testing in Huntington disease.  26:271-282. 1987
  • A major gene model for the familial aggregation of plasma IgA concentration.  27:857-866. 1987
  • Change in attitudes toward presymptomatic testing in Huntington disease.  24:369-371. 1986
  • Familial aggregation of small congenital nevomelanocytic nevi.  22:315-326. 1985
  • Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: Responses to dichloroacetate and benzoate.  22:291-299. 1985
  • Potential impact of a predictive test on the gene frequency of Huntington disease.  18:423-429. 1984
  • Recombination between the fragile X and G6PD..  17:275-276. 1984
  • Tetraploidy: A report of three live-born infants.  19:29-37. 1984
  • Prenatal diagnosis of congenital adrenal hyperplasia.  4:201-204. 1979
  • International Standard Serial Number (issn)

  • 0148-7299
  • 1552-4825
  • Electronic International Standard Serial Number (eissn)

  • 1552-4833