Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
<i>ADAT3</i> variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York. Am J Med Genet A. 2026 Jun; 200(6):1435-1441. View Abstract
— 2025cited by 0position: selected
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025 05 01; 112(5):975-983. View Abstract
— 2025cited by 0position: selected
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. Am J Hum Genet. 2025 02 06; 112(2):353-373. View Abstract
— 2025cited by 0position: selected
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 01; 197(1):e63843. View Abstract
— 2025cited by 0position: selected
The expanding clinical and genetic spectrum of <i>DYNC1H1</i>-related disorders
Clinical Actionability of Genetic Findings in Cerebral Palsy
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Updated consensus guidelines on the management of Phelan–McDermid syndrome
Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Abstract
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Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. Eur J Hum Genet. 2022 08; 30(8):960-966. View Abstract
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):750-758. View Abstract
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Eur J Hum Genet. 2021 08; 29(8):1235-1244. View Abstract
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150. View Abstract
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Sex Differences in Coronary Arterial Calcification in Symptomatic Patients. Am J Cardiol. 2021 06 15; 149:16-20. View Abstract
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. View Abstract
— 2020cited by 0position: selected
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. Am J Med Genet A. 2018 01; 176(1):181-186. View Abstract
— 2018cited by 0position: selected
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet. 2016 Apr 07; 98(4):772-81. View Abstract
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Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum
Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
Pierpont syndrome: a collaborative study. Am J Med Genet A. 2011 Sep; 155A(9):2203-11. View Abstract
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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011 Jun 23; 6:46. View Abstract
— 2011cited by 0position: selected