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Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1050, doi. 10.1002/ajmg.a.63125
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- Article
Novel noncanonical splice site variant causes mild CHD7‐related disorder with variable intrafamilial expressivity.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1128, doi. 10.1002/ajmg.a.63122
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- Article
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1119, doi. 10.1002/ajmg.a.63120
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- Article
Next generation phenotyping with quantitative narration for DEGCAGS syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1020, doi. 10.1002/ajmg.a.63111
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- Article
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1044, doi. 10.1002/ajmg.a.63119
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- Article
The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1038, doi. 10.1002/ajmg.a.63115
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- Article
Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith‐Wiedemann syndrome: A case report.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1107, doi. 10.1002/ajmg.a.63114
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- Article
Seizures in trisomy 18: Prevalence, description, and treatment.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1026, doi. 10.1002/ajmg.a.63113
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- Article
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1101, doi. 10.1002/ajmg.a.63112
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- Article
Neonatal diagnosis of ACTA2‐related disease: A case report and review of literature.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1111, doi. 10.1002/ajmg.a.63118
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- Article
Delineating the phenotype of RNU4ATAC‐related spliceosomopathy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1094, doi. 10.1002/ajmg.a.63110
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- Article
A pilot study of home‐based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1013, doi. 10.1002/ajmg.a.63109
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- Article
A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1089, doi. 10.1002/ajmg.a.63104
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- Article
Amniotic band syndrome and limb body wall complex in Europe 1980–2019.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 995, doi. 10.1002/ajmg.a.63107
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- Article
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge–Weber syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 983, doi. 10.1002/ajmg.a.63106
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- Article
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 977, doi. 10.1002/ajmg.a.63105
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- Article
In Loving Memory of Mary Kaye Richter (1945–2022).
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 920, doi. 10.1002/ajmg.a.62801
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- Article
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1007, doi. 10.1002/ajmg.a.63108
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- Article
The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 948, doi. 10.1002/ajmg.a.63102
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- Article
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1083, doi. 10.1002/ajmg.a.63101
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- Article
TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1077, doi. 10.1002/ajmg.a.63100
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- Article
ZDHHC15 as a candidate gene for autism spectrum disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 941, doi. 10.1002/ajmg.a.63099
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- Article
Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 962, doi. 10.1002/ajmg.a.63103
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- Article
A typical variant in TCF4 exon 18 is not associated with Pitt–Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1070, doi. 10.1002/ajmg.a.63098
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- Article
A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok‐Campeau syndrome?
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1065, doi. 10.1002/ajmg.a.63096
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Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21‐year‐old female with an intronic mutation in the elastin gene.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1059, doi. 10.1002/ajmg.a.63095
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- Article
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 923, doi. 10.1002/ajmg.a.63094
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- Article
In This Issue.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 922, doi. 10.1002/ajmg.a.62802
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- Article
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 930, doi. 10.1002/ajmg.a.63097
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The Human Genome Sequence is now Complete.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 919, doi. 10.1002/ajmg.a.62800
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- Article
Publication schedule for 2023.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 918, doi. 10.1002/ajmg.a.62799
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- Article
Table of Contents, Volume 191A, Number 4, April 2023.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 913, doi. 10.1002/ajmg.a.62798
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- Article