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Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 995, doi. 10.1007/s00439-024-02691-0
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- Article
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.906540
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- Article
Applications of artificial intelligence in clinical laboratory genomics.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32057
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- Article
Cover Image, Volume 193, Number 3, September 2023.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.31982
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- Article
Democratizing genomics: Leveraging software to make genetics an integral part of routine care.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 1, p. 14, doi. 10.1002/ajmg.c.31866
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- Article
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63646
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- Publication type:
- Article
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2642, doi. 10.1002/ajmg.a.62779
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- Article
Severe SOPH syndrome due to a novel NBAS mutation in a 27‐year‐old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1767, doi. 10.1002/ajmg.a.61597
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- Article
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2914, doi. 10.1002/ajmg.a.36714
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- Article
Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2105, doi. 10.1002/ajmg.a.36031
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- Article
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 835, doi. 10.1002/ajmg.a.35739
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- Publication type:
- Article
Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2152, doi. 10.1002/ajmg.a.35574
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- Publication type:
- Article
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446
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- Publication type:
- Article
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1512, doi. 10.1002/ajmg.a.35409
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- Publication type:
- Article
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 391, doi. 10.1002/ajmg.a.34216
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- Article
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
- Published in:
- Immunologic Research, 2020, v. 68, n. 3, p. 126, doi. 10.1007/s12026-020-09131-x
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- Article
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.663911
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- Article
Genetic testing outcomes in a cohort of 21,159 children with heart disease.
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- Cardiology in the Young, 2022, v. 32, n. S2, p. S3, doi. 10.1017/S1047951122001950
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- Article
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67
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- Article
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
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- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 398, doi. 10.1038/ejhg.2011.199
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- Article
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 10, p. e2339571, doi. 10.1001/jamanetworkopen.2023.39571
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- Article
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 439, doi. 10.1002/epi4.12878
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- Publication type:
- Article
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
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- Epilepsia Open, 2019, v. 4, n. 3, p. 397, doi. 10.1002/epi4.12348
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- Article
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
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- JAMA Neurology, 2022, v. 79, n. 12, p. 1267, doi. 10.1001/jamaneurol.2022.3651
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- Article
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
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- Epilepsia (Series 4), 2022, v. 63, n. 7, p. e68, doi. 10.1111/epi.17269
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- Publication type:
- Article
A Mouse Keratin 1 Mutation Causes Dark Skin and Epidermolytic Hyperkeratosis.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 5, p. 1013, doi. 10.1038/sj.jid.5700241
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- Article
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 473, doi. 10.1002/mgg3.415
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- Publication type:
- Article
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female.
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- 2019
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- Publication type:
- journal article
Secondary Uses of Genetic Data: Practical Solutions to Address a Complex Legal Framework.
- Published in:
- Journal of Health & Life Sciences Law, 2021, v. 15, n. 1, p. 58
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- Article
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2538, doi. 10.1002/ajmg.a.34198
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- Article
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 442, doi. 10.1002/ajmg.a.33814
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- Article
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
- Published in:
- Human Mutation, 2021, v. 42, n. 9, p. 1165, doi. 10.1002/humu.24250
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- Article
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3965
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- Article
Multiple pathogenic and benigngenomic rearrangements occur at a 35 kb duplication involving the NEMOandLAGE2 genes.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2557, doi. 10.1093/hmg/10.22.2557
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- Publication type:
- Article
A recurrent deletion in the ubiquitously expressed NEMO (IKK- γ ) gene accounts for the vast majority of incontinentia pigmenti mutations.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 19, p. 2171, doi. 10.1093/hmg/10.19.2171
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- Article
X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3.
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- 2021
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- Publication type:
- Case Study
Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 2, p. 202, doi. 10.1002/jbmr.4454
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- Publication type:
- Article
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 3, p. 363, doi. 10.1111/jns.12651
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- Publication type:
- Article