Jacob McCauley
University of Miami
H-index: 58
North America-United States
Top articles of Jacob McCauley
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Deep Resequencing of the 1q22 Locus in Non‐Lobar Intracerebral Hemorrhage | Annals of neurology | Livia Parodi Mary E Comeau Marios K Georgakis Ernst Mayerhofer Jaeyoon Chung | 2024/2 |
De novo variants in DENND5B cause a neurodevelopmental disorder | The American Journal of Human Genetics | Marcello Scala Valeria Tomati Matteo Ferla Mariateresa Lena Julie S Cohen | 2024/2/16 |
Association Between Body Mass Index and Functional Outcomes in Patients With Intracerebral Hemorrhage | American Journal of Human Biology | Eduard Maury‐Sintjago Alejandra Rodríguez‐Fernández Julio Parra‐Flores Danny E Garcia | 2019/11 |
Abstract TP162: Polyamine Levels Are Elevated After Intracerebral Hemorrhage | Stroke | Stacie L Demel Luis Hernandez Rodriguez Mary Comeau Jacob McCauley Carl D Langefeld | 2024/2 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
Early life and childhood environmental exposures, more than genetic predisposition, influence age of diagnosis in a diverse cohort of 2952 patients with IBD | Clinical Gastroenterology and Hepatology | Nidah S Khakoo Ashley H Beecham Jiangnan Lyu Maria A Quintero Lissette Gomez | 2024/2/1 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | The American Journal of Human Genetics | Eva Niggl Arjan Bouman Lauren C Briere Remco M Hoogenboezem Ilse Wallaard | 2023/8/3 |
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network | Genetics in Medicine | Rebecca C Spillmann Queenie K-G Tan Chloe Reuter Kelly Schoch Undiagnosed Diseases Network | 2023/4/1 |
Novel genetic locus and CNS resilience modulate multiple sclerosis severity | Nature | International Multiple Sclerosis Genetics Consortium MultipleMS Consortium | 2023/7 |
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome | Annals of Clinical and Translational Neurology | Jonai Pujol‐Giménez Ghayda Mirzaa Elizabeth E Blue Giuseppe Albano Danny E Miller | 2023/6 |
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care | The Journal of Pediatrics | Meghan C Halley Jennifer L Young Charis Tang Kevin T Mintz Sawyer Lucas-Griffin | 2023/10/1 |
Patients’ views on HCC biospecimen research: Understanding the role of race and culture through interviews | Hepatology communications | Patricia D Jones Ryan C Schooley Sophia Hon Stephanie M Castañeda Jacob L McCauley | 2023/6/1 |
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling | The American Journal of Human Genetics | Manuela Morleo Rossella Venditti Evangelos Theodorou Lauren C Briere Marion Rosello | 2023/8/3 |
Bi-allelic variants in INTS11 are associated with a complex neurological disorder | The American Journal of Human Genetics | Burak Tepe Erica L Macke Marcello Niceta Monika Weisz Hubshman Oguz Kanca | 2023/5/4 |
Risk Factors Associated With Mortality and Neurologic Disability After Intracerebral Hemorrhage in a Racially and Ethnically Diverse Cohort | JAMA network open | Daniel Woo Mary E Comeau Simone Uniken Venema Christopher D Anderson Matthew Flaherty | 2022/3/1 |
Revisiting the Latino Epidemiologic Paradox: an Analysis of Data from the All of Us Research Program | Journal of General Internal Medicine | Raul Montanez-Valverde Jacob McCauley Rosario Isasi Stephan Zuchner Olveen Carrasquillo | 2022/11 |
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility | Nature genetics | Aleksejs Sazonovs Christine R Stevens Guhan R Venkataraman Kai Yuan Brandon Avila | 2022/9 |
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples | Journal of genetic counseling | Allyn McConkie‐Rosell Kelly Schoch Jennifer Sullivan Rebecca C Spillmann Heidi Cope | 2022/2 |
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder | Genetics in medicine | Suma P Shankar Kristin Grimsrud Louise Lanoue Alena Egense Brandon Willis | 2022/7/1 |
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