11 results on '"Anne McRae"'
Search Results
2. P678: Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome
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Farid Ullah, Vincenzo Salpietro, Meghan Coghlan, Abhineet Sharma, Angelique Mercier, Anne McRae, Henry Houlden, and Erica Davis
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Genetics ,QH426-470 ,Medicine - Published
- 2024
- Full Text
- View/download PDF
3. P400: Implementation of genetic inpatient consultation services in pediatrics: DNA (Discover New Answers) Consult Team
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Merlene Peter, Rachel Hickey, Miguel Moran, Anne McRae, Joel Charrow, Joshua Baker, and Carlos Prada
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Genetics ,QH426-470 ,Medicine - Published
- 2023
- Full Text
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4. P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses
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Andy Drackley, Pamela Rathbun, Alexander Ing, Alissa Wlodaver, Joshua Baker, Rachel Hickey, Merlene Peter, Anne McRae, Sarah Jurgensmeyer, Kai Lee Yap, and Carlos Prada
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Genetics ,QH426-470 ,Medicine - Published
- 2023
- Full Text
- View/download PDF
5. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
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Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, and Reza Maroofian
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NDD ,biallelic variation ,AMC5 ,610 Medicine & health ,Neurology (clinical) ,Torsin-1A ,610 Medizin und Gesundheit ,arthrogryposis multiplex congenita 5 ,Medical Genetics ,Medicinsk genetik - Abstract
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival. CC BY 4.0Correspondence to: Reza MaroofianDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UKE-mail: R.Maroofian@ucl.ac.ukA.S. is funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) – SA 4171/1-1. H.H. is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). S.E. is supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1’. This work was supported in part by the US National Institutes of Health R35 NS105078 and MDA#512848 to J.R.L., a jointly funded National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) grant to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542) and NHGRI Genomics Research to Elucidate Genetics of Rare (BCM-GREGoR U01 HG011758). D.P. is supported by Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation (ABF) and Muscle Study Group (MSG). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s Hospital Foundation. H.T. has been supported by the European Union’s Seventh Framework Program for research, technological development and demonstration under grant agreement no. 608473. H.S.D. is supported by the Cologne Clinician Scientist Program/Faculty of Medicine/University of Cologne and funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project No. 413543196). H.J. has been supported by a grant from the European Union (H2020- MSCA-ITN-2017). A.M.D. is supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health (grant 1R01HD104938-01A1). H.L. receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279). This research was funded in part by the Wellcome Trust (WT093205MA, WT104033AIA and the Synaptopathies Strategic Award, 165908) as well as the Medical Research Council (MRC) (MR/S01165X/1, MR/ S005021/1, G0601943). Additonally, we are grateful for funding from The MSA Trust, The National Institute for Health Research University College London Hospitals Biomedical Research Centre, The Michael J Fox Foundation (MJFF), BBSRC, The Fidelity Trust, Rosetrees Trust, Ataxia UK, Brain Research UK, Sparks GOSH Charity, Alzheimer’s Research UK (ARUK) and CureDRPLA.
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- 2023
6. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
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Karen W. Gripp, Ingrid M. Wentzensen, Julie D. Kaplan, Lindsay B. Henderson, Germaine Pierre, Maggie Williams, Anne McRae, Kerstin Kutsche, Jean-Marc Good, Julia Baptista, Marleen Simon, Anirban Majumdar, Mary Beth Dinulos, Andrea Superti-Furga, Ellen van Binsbergen, Lisette Leeuwen, Ingrid Scurr, Sarah F. Smithson, and Heather M. McLaughlin
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Adult ,Male ,0301 basic medicine ,Hypertrichosis ,Potassium Channels ,Adolescent ,Small-Conductance Calcium-Activated Potassium Channels ,Nails, Malformed ,Biology ,Article ,Craniofacial Abnormalities ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Intellectual Disability ,Genetics research ,Intellectual disability ,Genetics ,medicine ,Humans ,Missense mutation ,Abnormalities, Multiple ,Child ,Gene ,Genetics (clinical) ,Fibromatosis, Gingival ,Abnormalities, Multiple/genetics ,Abnormalities, Multiple/pathology ,Channelopathies/genetics ,Channelopathies/pathology ,Craniofacial Abnormalities/genetics ,Craniofacial Abnormalities/pathology ,Ether-A-Go-Go Potassium Channels/genetics ,Female ,Fibromatosis, Gingival/genetics ,Fibromatosis, Gingival/pathology ,Gain of Function Mutation ,Hallux/abnormalities ,Hallux/pathology ,Hand Deformities, Congenital/genetics ,Hand Deformities, Congenital/pathology ,Intellectual Disability/genetics ,Intellectual Disability/pathology ,Nails, Malformed/genetics ,Nails, Malformed/pathology ,Phenotype ,Potassium Channels/genetics ,Small-Conductance Calcium-Activated Potassium Channels/genetics ,Thumb/abnormalities ,Thumb/pathology ,Coarse facial features ,medicine.disease ,Ether-A-Go-Go Potassium Channels ,Paediatric neurological disorders ,030104 developmental biology ,Thumb ,KCNK4 ,Hallux ,Channelopathies ,Hand Deformities, Congenital ,030217 neurology & neurosurgery - Abstract
Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, kidney, and other organs. While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is well known, GOF missense variants in K+ channel encoding genes in individuals with syndromic developmental disorders have only recently been recognized. These syndromic phenotypes include Zimmermann–Laband and Temple–Baraitser syndromes, caused by dominant variants in KCNH1, FHEIG syndrome due to dominant variants in KCNK4, and the clinical picture associated with dominant variants in KCNN3. Here we review the presentation of these individuals, including five newly reported with variants in KCNH1 and three additional individuals with KCNN3 variants, all variants likely affecting function. There is notable overlap in the phenotypic findings of these syndromes associated with dominant KCNN3, KCNH1, and KCNK4 variants, sharing developmental delay and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia, and hypertrichosis. We suggest to combine the phenotypes and define a new subgroup of potassium channelopathies caused by increased K+ conductance, referred to as syndromic neurodevelopmental K+ channelopathies due to dominant variants in KCNH1, KCNK4, or KCNN3.
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- 2021
7. Folinic acid initiation in FOLR1-related cerebral folate transport deficiency
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Michael Vogt, David Bieber, Joshua Baker, Sarah Jurgensmeyer, Sukhraj Mudahar, and Anne McRae
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medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Cerebral folate transport deficiency ,Biochemistry ,Folinic acid ,Endocrinology ,Internal medicine ,Genetics ,medicine ,business ,Molecular Biology ,medicine.drug - Published
- 2021
8. Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
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Alexandria Saulsberry, Anne McRae, Richard Dineen, Valerie Lindgren, George E. Hoganson, and Michael J. Schrift
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Genetics ,distal 22q11.2 microduplication ,neuropsychiatric problems ,Microarray ,Hearing loss ,business.industry ,Breakpoint ,Low copy repeats ,Original Articles ,Bioinformatics ,Distal 22q11.2 microdeletion ,low copy repeats ,medicine ,In patient ,medicine.symptom ,business ,Molecular Biology ,Genetics (clinical) ,Early onset - Abstract
We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies.
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- 2014
9. Implementation of newborn screening for lysosomal disease: A clinician perspective
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Suzanne M. O'Neill, Richard Dineen, Anne McRae, Joel Charrow, Jill Corkery, and Maria Helgeson
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Newborn screening ,medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Perspective (graphical) ,Disease ,Biochemistry ,Endocrinology ,Genetics ,Medicine ,business ,Psychiatry ,Intensive care medicine ,Molecular Biology - Published
- 2016
10. A Study of the Moisture Requirements of the Eggs of the Chicken Ascarid, Ascaridia galli
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Anne McRae
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Veterinary medicine ,Moisture ,Helminths ,Parasitology ,Relative humidity ,Ascaridia galli ,Ascaridiosis ,Biology ,biology.organism_classification ,Ecology, Evolution, Behavior and Systematics - Published
- 1935
11. The Extra-Corporeal Hatching of Ascaris Eggs
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Anne McRae
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biology ,Ascaris ,Hatching ,Zoology ,Helminths ,Parasitology ,Anatomy ,Eggshell ,biology.organism_classification ,Ecology, Evolution, Behavior and Systematics - Published
- 1935
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