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Truncating mutations in APP cause a distinct neurological phenotype.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
P1‐123: VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P282, doi. 10.1016/j.jalz.2019.06.678
- By:
- Publication type:
- Article
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
- Published in:
- Human Genetics, 2021, v. 140, n. 4, p. 681, doi. 10.1007/s00439-020-02240-5
- By:
- Publication type:
- Article
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1397
- By:
- Publication type:
- Article
Epigenetic age provides insight into tissue origin in endometriosis.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-25416-7
- By:
- Publication type:
- Article
Psychiatric Characteristics Across Individuals With PTEN Mutations.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.672070
- By:
- Publication type:
- Article
Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 4, p. 402, doi. 10.1002/ajmg.c.31531
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- Publication type:
- Article
Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome F Quintero-Rivera and JA Martinez-Agosto Bilateral exophthalmos and gene mutation.
- Published in:
- Journal of Paediatrics & Child Health, 2010, v. 46, n. 11, p. 693, doi. 10.1111/j.1440-1754.2009.01692.x
- By:
- Publication type:
- Article
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3401, doi. 10.1002/ajmg.a.62458
- By:
- Publication type:
- Article
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1430, doi. 10.1002/ajmg.a.62126
- By:
- Publication type:
- Article
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1519, doi. 10.1002/ajmg.a.62117
- By:
- Publication type:
- Article
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1076, doi. 10.1002/ajmg.a.62064
- By:
- Publication type:
- Article
Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 894, doi. 10.1002/ajmg.a.62025
- By:
- Publication type:
- Article
Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2517, doi. 10.1002/ajmg.a.61368
- By:
- Publication type:
- Article
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.
- Published in:
- 2017
- By:
- Publication type:
- Other
Nomenclature and definition in asymmetric regional body overgrowth.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
- By:
- Publication type:
- Article
Cover Image, Volume 173A, Number 7, July 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1319, doi. 10.1002/ajmg.a.38207
- By:
- Publication type:
- Article
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1985, doi. 10.1002/ajmg.a.35895
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- Publication type:
- Article
Phenotypic progression of skeletal anomalies in CLOVES syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1690, doi. 10.1002/ajmg.a.35383
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- Publication type:
- Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
- By:
- Publication type:
- Article
The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 9, p. 1450, doi. 10.1002/aur.2338
- By:
- Publication type:
- Article
Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2013, v. 6, n. 1, p. 51, doi. 10.1002/aur.1266
- By:
- Publication type:
- Article
Insulin- and Warts-Dependent Regulation of Tracheal Plasticity Modulates Systemic Larval Growth during Hypoxia in Drosophila melanogaster.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115297
- By:
- Publication type:
- Article
Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01491-1
- By:
- Publication type:
- Article
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 6, p. 1, doi. 10.1371/journal.pgen.1009651
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- Publication type:
- Article
Danon disease with typical early-onset cardiomyopathy in a male: Focus on a novel LAMP-2 mutation.
- Published in:
- Pediatric Transplantation, 2008, v. 12, n. 2, p. 246, doi. 10.1111/j.1399-3046.2007.00874.x
- By:
- Publication type:
- Article
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.
- Published in:
- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 1, p. 414, doi. 10.1007/s10803-021-04881-5
- By:
- Publication type:
- Article
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71
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- Publication type:
- Article
A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors.
- Published in:
- Nature, 2007, v. 446, n. 7133, p. 320, doi. 10.1038/nature05585
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- Publication type:
- Article
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41398-019-0588-1
- By:
- Publication type:
- Article
Support for calcium channel gene defects in autism spectrum disorders.
- Published in:
- Molecular Autism, 2012, v. 3, n. 1, p. 18, doi. 10.1186/2040-2392-3-18
- By:
- Publication type:
- Article
The effects of hypoxia in determining larval size in Drosophila melanogaster (888.1).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.888.1
- By:
- Publication type:
- Article
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.
- Published in:
- ACG Case Reports Journal, 2019, v. 6, n. 3, p. 1, doi. 10.14309/crj.0000000000000021
- By:
- Publication type:
- Article
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1301, doi. 10.1002/acn3.52046
- By:
- Publication type:
- Article
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2320, doi. 10.1002/acn3.51209
- By:
- Publication type:
- Article
Enhancing multi‐site autism research through the development of a collaborative data platform.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2024, v. 17, n. 7, p. 1322, doi. 10.1002/aur.3167
- By:
- Publication type:
- Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
- Published in:
- Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad030
- By:
- Publication type:
- Article
Is polycystic kidney disease associated with malignancy in children?
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.725
- By:
- Publication type:
- Article
Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.501
- By:
- Publication type:
- Article
Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-90798-z
- By:
- Publication type:
- Article
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.
- Published in:
- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-022-09468-4
- By:
- Publication type:
- Article
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
- Published in:
- Pediatric Blood & Cancer, 2020, v. 67, n. 3, p. N.PAG, doi. 10.1002/pbc.28103
- By:
- Publication type:
- Article
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway.
- Published in:
- Cells (2073-4409), 2012, v. 1, n. 4, p. 886, doi. 10.3390/cells1040886
- By:
- Publication type:
- Article
Stem Cell Niche Dynamics: From Homeostasis to Carcinogenesis.
- Published in:
- Stem Cells International, 2012, p. 1, doi. 10.1155/2012/367567
- By:
- Publication type:
- Article
Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 4, p. 570, doi. 10.1002/pbc.24316
- By:
- Publication type:
- Article
B-Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.
- Published in:
- Pediatric Blood & Cancer, 2011, v. 56, n. 3, p. 470, doi. 10.1002/pbc.22909
- By:
- Publication type:
- Article