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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63578
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- Publication type:
- Article
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 33, doi. 10.3390/ijns10020033
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- Publication type:
- Article
Motor difficulties in 16p11.2 copy number variation.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2024, v. 17, n. 5, p. 906, doi. 10.1002/aur.3132
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- Publication type:
- Article
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 523, doi. 10.1111/cge.14487
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- Publication type:
- Article
Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63471
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- Publication type:
- Article
SPARKing New Insight Into Autism Across the Lifespan.
- Published in:
- American Journal on Intellectual & Developmental Disabilities, 2024, v. 129, n. 2, p. 91, doi. 10.1352/1944-7558-129.2.91
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- Publication type:
- Article
A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 3, p. 254, doi. 10.1111/cge.14457
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- Publication type:
- Article
Caregiver‐reported dental manifestations in individuals with genetic neurodevelopmental disorders.
- Published in:
- International Journal of Paediatric Dentistry, 2024, v. 34, n. 2, p. 145, doi. 10.1111/ipd.13116
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- Publication type:
- Article
Urinary Androgens Provide Additional Evidence Related to Metabolism and Are Correlated With Serum Androgens in Girls.
- Published in:
- Journal of the Endocrine Society, 2024, v. 8, n. 3, p. 1, doi. 10.1210/jendso/bvad161
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- Publication type:
- Article
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03067-3
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- Publication type:
- Article
Association of genetic and sulcal traits with executive function in congenital heart disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 2, p. 278, doi. 10.1002/acn3.51950
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- Publication type:
- Article
Childhood physical activity and pubertal timing: findings from the LEGACY girls study.
- Published in:
- International Journal of Epidemiology, 2024, v. 53, n. 1, p. 1, doi. 10.1093/ije/dyad193
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- Publication type:
- Article
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.
- Published in:
- Journal of the American Medical Informatics Association, 2024, v. 31, n. 2, p. 306, doi. 10.1093/jamia/ocad207
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- Publication type:
- Article
Rescuing lung development through embryonic inhibition of histone acetylation.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 732, p. 1, doi. 10.1126/scitranslmed.adc8930
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- Publication type:
- Article
Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring.
- Published in:
- Child: Care, Health & Development, 2024, v. 50, n. 1, p. 1, doi. 10.1111/cch.13212
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- Publication type:
- Article
A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 77, doi. 10.1111/cge.14411
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- Publication type:
- Article
Health supervision for children and adolescents with 16p11.2 deletion syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006316
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- Publication type:
- Article
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00376-7
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- Publication type:
- Article
Artificial intelligence and the impact on medical genetics.
- 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.32060
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- Publication type:
- Article
Knowledge and beliefs about epilepsy genetics among Hispanic and non‐Hispanic patients.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 9, p. 2443, doi. 10.1111/epi.17701
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- Publication type:
- Article
Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1106573
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- Publication type:
- Article
Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1383, doi. 10.1002/acn3.51829
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- Publication type:
- Article
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival.
- Published in:
- Cancer Medicine, 2023, v. 12, n. 15, p. 16142, doi. 10.1002/cam4.6272
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- Publication type:
- Article
Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006285
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- Publication type:
- Article
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8897, doi. 10.3390/ijms24108897
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- Publication type:
- Article
Design and Rationale the SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 8, p. 1, doi. 10.1161/JAHA.122.028534
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- Publication type:
- Article
Molecular function and contribution of TBX4 in development and disease.
- Published in:
- 2023
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- Publication type:
- Chart/Diagram/Graph
Molecular Function and Contribution of in Development and Disease.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 7, p. 855, doi. 10.1164/rccm.202206-1039TR
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- Publication type:
- Article
Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients?
- Published in:
- Annals of Internal Medicine, 2023, v. 176, n. 4, p. 563, doi. 10.7326/M22-3682
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- Publication type:
- Article
Maternal and prenatal factors and age at thelarche in the LEGACY Girls Study cohort: implications for breast cancer risk.
- Published in:
- International Journal of Epidemiology, 2023, v. 52, n. 1, p. 272, doi. 10.1093/ije/dyac108
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- Publication type:
- Article
SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants.
- Published in:
- Briefings in Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1093/bib/bbac584
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- Publication type:
- Article
First Genotype--Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2022, v. 206, n. 12, p. 1522, doi. 10.1164/rccm.202203-0485OC
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- Publication type:
- Article
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 50, doi. 10.3390/ijns8040050
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- Publication type:
- Article
Women's thoughts on receiving and sharing genetic information: Considerations for genetic counseling.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 6, p. 1249, doi. 10.1002/jgc4.1599
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- Publication type:
- Article
Ventricular arrhythmias in Kearns–Sayre syndrome: A cohort study using the National Inpatient Sample database 2016–2019.
- Published in:
- Pacing & Clinical Electrophysiology, 2022, v. 45, n. 12, p. 1357, doi. 10.1111/pace.14607
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- Publication type:
- Article
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3110, doi. 10.1002/ajmg.a.62943
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- Publication type:
- Article
Clinical and genetic characterization of CACNA1A‐related disease.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 4, p. 288, doi. 10.1111/cge.14180
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- Publication type:
- Article
Body mass index rebound and pubertal timing in girls with and without a family history of breast cancer: the LEGACY girls study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
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- Publication type:
- Article
Reproduction and genetic causal attribution of epilepsy.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 9, p. 2392, doi. 10.1111/epi.17349
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- Publication type:
- Article
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing.
- Published in:
- Public Health Genomics, 2022, v. 25, n. 5/6, p. 185, doi. 10.1159/000526382
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- Publication type:
- Article
Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03696-z
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- Publication type:
- Article
PHIP variants associated with Chung– Jansen syndrome disrupt replication fork stability and genome integrity.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 5, p. 1, doi. 10.1101/mcs.a006212
- By:
- Publication type:
- Article
Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 7, p. e2222092, doi. 10.1001/jamanetworkopen.2022.22092
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- Publication type:
- Article
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31566-z
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- Publication type:
- Article
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1954, doi. 10.1002/ajmg.a.62721
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- Publication type:
- Article
The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 7, p. 1, doi. 10.1001/jamanetworkopen.2022.22092
- By:
- Publication type:
- Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
- Published in:
- Journal of Neurodevelopmental Disorders, 2022, v. 14, p. 1, doi. 10.1186/s11689-022-09449-7
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- Publication type:
- Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
- Published in:
- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09449-7
- By:
- Publication type:
- Article