Speech and oromotor function were About Us Voice Care Prof. Vicki Anderson, Neuropsychologist, Director of Clinical Sciences Research, Murdoch Children's Research Institute, Melbourne. Barrett T, Tranebjrg L, Gupta R, Rendtorff ND, Williams D, Wright B, Dias R. 2009 Feb 24 [updated 2022 Dec 1]. This ideally involves multidisciplinary care by speech-language pathologists (to individualize care, which may include use of nonverbal support or To determine whether specific speech, language, and oromotor profiles are associated with different patterns of polymicrogyria, we assessed 52 patients with polymicrogyria using a battery of standardized tests and correlated findings with topography and severity of polymicrogyria. 2022 Sep 18. doi: 10.1038/s41380-022-01764-8. Lang Speech Hear Serv Sch. FOXP2- Related Speech and Language Disorder - PubMed and transmitted securely. Epub 2023 Mar 14. Bookshelf This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply. CAS also interferes nonselectively with multiple other aspects of language, including phonology, grammar, and literacy. Led by the Speech & Language Group, this research brings together MCRI, RCH and University of Melbourne speech pathology, paediatrics, neurology and neuropsychology clinicians and researchers. Recently, an increasing number of genes are being identified as a cause of childhood apraxia of speech. government site. At Murdoch, we offer a diverse range of courses, from counter-terrorism to creative arts, to business and veterinary studies. Learning more about genetic and other underlying causes will help identify who may be at risk and allow more targeted language and speech therapies. If you would like to find out more about the study, please contact the study team: This study aims to pinpoint the genes that predispose individuals to stuttering. Sheena Reilly Profile | Griffith University Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR. TRACTION: Get A Grip on Your Business is the catalyst. HHS Vulnerability Disclosure, Help Lottie is also a PhD student at the University of Melbourne. Heres what we can do to help them get the rehabilitation they need. We are looking for child and adult participants with any form of speech, language or literacy disorder (including stuttering) to take part in our project. #BattenDisease #RareDisease #MedicalResearch #ResearchGrant #MurdochChildrens, Certified EOS Implementer | Family Business Adviser | Keynote Speaker on How to Lead, Manage and Hold People Accountable. Such advances in technique will also have a major influence on human connectome investigations. The https:// ensures that you are connecting to the In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Speech therapy for children with dysarthria acquired before three years of age. But this medical term doesnt explain the traumatic procedure involved. Hildebrand, M. S., Jackson, V. E., Scerri, T. S., Van Reyk, O., Coleman, M., Braden, R. O., Turner, S., Rigbye, K., Boys, A., Barton, S., Webster, R., Fahey, M., Saunders, K., Parry-Fielder, B., Paxton, G., Hayman, M., Coman, D., Goel, H., Baxter, A., Ma, A., David, N., Reilly, S., Detaltycki, M., Liegeois, F. J., Connelly, A., Gecz, J., Fisher, S. E., Amor, D, D. J., Scheffer, I. E., Bahlo, M., & Morgan, A. T. (2020). government site. A neurogeneticist with a well-established track record in applying genetic and functional approaches to elucidate novel pathways involved in human disease. Dr. Antony Kaspi is a bioinformatician and post-doctoral fellow. If your child struggles in school, social interactions or reading, the underlying issue may be DLD. Congratulations to alumna Lottie who has been awarded a prestigious Batten Disease in Communication Disorders in 1999. Murdoch Childrens Research Institute leadsThe Centre of Research Excellence in Speech and Language, an international collaboration of experts that aims to identify and understand the causes of developmental language disorders and develop therapies. Understanding causes of speech and language disorders will improve developments in treatment.Currently, many treatments for speech and language disorders focus on symptoms only without targeting the underlying cause of the problem. William G. Murdoch, MD | Loma Linda University Health - LLUH 2022 Sep 30;9(10):1502. doi: 10.3390/children9101502. sharing sensitive information, make sure youre on a federal An official website of the United States government. UoM Speech Pathology on LinkedIn: Murdoch Childrens and transmitted securely. WebAutonomy of Speech-Language Pathology and Audiology Calibration of Speech Signals Delivered Via Earphones Code of Fair Testing Practices in Education Definitions of Communication Disorders and Variations Issues: Occupational and Environmental Hearing Conservation Language Learning Disabilities: Issues in Higher Education Since 2012, public universities have been allowed to determine the number of, Online speech therapy programs might be the answer to overcoming a stutter. Pinpointing which genes are responsible may lead to more targeted treatments. WebAt Murdoch, we offer a diverse range of courses, from counter-terrorism to creative arts, to business and veterinary studies. Access to speech pathology services for 12-16 year olds in public schools is inconsistent across Australian states and territories. Kaufman Speech Praxis Treatment Approach. Copyright 2020 Elsevier Inc. All rights reserved. NHMRC Centre of Research Excellence for Pneumococcal Disease Control in the Asia-Pacific, CEBU research methods and software training. To date, Angela and team have characterised speech and language in children with several genetic syndromes, single gene and copy number variant conditions, including but not exclusive to: FOXP2-related speech and language disorders, FOXP1-related disorder, SETBP1 haploinsufficiency disorder, Phelan McDermid syndrome, KAT6A syndrome, DYRK1A syndrome, Kabuki syndrome, Floating Harbour Syndrome, 16p11.2 deletion, Koolen de Vries syndromes, GRIN2A-related disorders, Dravet syndrome, Beckwith Weidemann Syndrome and Klinefelter Syndrome. Keywords: Cochrane Database Syst Rev. Heres how that affects theirlives, How to tell if your child has a speech or languageimpairment, Too many graduates, not enough jobs: universities, profits and clinicalneed. 2018 May 30;5(5):CD006278. Yet the precise biological pathways that underlie stuttering are not well understood. For many of these, you can choose to learn full-time, part-time, on or off campus. July 3, 2022July 3, 2022. aaron miles baseball net worth minnesota tornado siren map avant don t take your love away sample. Seeing good people living their ideal lives is a blessing. Morison LD, Braden RO, Amor DJ, Brignell A, van Bon BWM, Morgan AT. WebWe are currently enrolling students for on-campus classes and scheduling in-person campus tours. Today is a very, very special day. Helping entrepreneurs to get more of what they want from their businesses. Patricia Breaux, MS, CCC-SLP - The Speech Emporium Acognitive neuroscientist in the Cognitive Neuroscience and Neuropsychiatry Section at the UCL Great Ormond Street Institute of Child Health, one of the worlds leading institutions in paediatric research. Cypress, TX 77429 Unauthorized use of these marks is strictly prohibited. 5 e Speech Pathology , Royal Children's Hospital , Melbourne , Australia. Children with these conditions also experience communication breakdown, where people struggle to understand what affected children say. Speech impediments such as stuttering can make it hard for children to speak fluently. Your child says poon for spoon and fum for thumb. Epub 2019 Jan 25. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. While stuttering affects one in ten children under the age of four, it doesnt affect emotional development. Search throughout the entire MCRI website to find exactly what you are looking for. Sheena is a speech pathologist with particular interest in the epidemiology of speech and language disorders. PMC Position: Kindred Rehab (Cortes) Travel: Speech Language Pathologist - Sugar Land, TX. The .gov means its official. Nichola Shelton, University of Sydney; Julia Starling, University of Sydney, She has worked across a range of projects and gained expertise in speech and language phenotyping. Children may repeat words, lengthen sounds or experience blocks in speech where they cannot produce a particular sound, word or words. In other cases, there is a strong history of speech difficulties from one or both sides of the family. Patti graduated from Nicholls State University with a Bachelor of Arts Prof. David Coman, Paediatrician, Metabolic Physician and Clinical Geneticist, Wesley Hospital, Brisbane. Disclaimer. An internationally recognized consultant clinical geneticist and clinician scientist with a research focus on human genetic disorders. Their cries and coos speak volumes. [Clinical variability of polymicrogiria: report of 35 new cases and review of the literature]. All rights reserved. Another study is investigating if thedrug methylphenidate, normally used in attention deficit hyperactivity disorder (ADHD), can improve speech and language in children with apraxia. Bethesda, MD 20894, Web Policies All patients had dysarthria, which ranged from mild impairment to anarthria. Results: WebThe team have identified 10 single genes causative for a debilitating speech disorder, known as apraxia of speech. Her group will analyse genomic data generated in the CRE. These features are associated with all polymicrogyria distribution patterns and more severe in individuals with bilateral polymicrogyria, particularly in the perisylvian region. -, Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, Al Alam C, Alesi V, Benoit V, Bhatia KP, Bierhals T, Boelmann CM, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Gener M, Gobert C, Guliyeva U, Haack TB, Hammer TB, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi MY, Moudi M, Mller AJ, Oostra AJ, Pletcher BA, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki MS, Zech M, Lerche H, Radio FC, Gomez-Puertas P, Mller RS, Tmer Z. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. We are funded by the National Health and Medical Research Council for the next five years. Genetic factors are thought to play a key role in speech and language disorders. Murdoch University We pay our respects to the Traditional Owners and to Elders both past and present. Individuals and families with a strong history of childhood apraxia of speech (CAS), Individuals and families with a strong history of stuttering, Identical and non-identical twins with CAS, stuttering or severe speech/language disorder, Florey Institute of Neuroscience and Mental Health, The Walter and Eliza Hall Institute of Medical Research, Max Planck Institute of Psycholinguistics, University College London Great Ormond Street Institute of Child Health. Know her more Mrs Julia Fraser Counselling Psychologist Julia has a Masters degree in Counselling psychology from Murdoch University. Dr. Elizabeth Murray, Speech Pathologist, Discipline of Speech Pathology, Faculty of Health Sciences, University of Sydney, Sydney. Find ways to qualify for uni, no matter your circumstances. By the. Discover how you can support us and our partners to help our researchers make life-changing breakthroughs for children. Process-Oriented Profiling of Speech Sound Disorders. We pay our respect to their Elders past, present and emerging. Treatment of manifestations: There is no cure for FOXP2-SLD. Dysarthria is a core feature of polymicrogyria, often accompanied by receptive and expressive language impairments. Job Description. Nagy O, Krteszi J, Elmont B, Ujfalusi A. Intervention for childhood apraxia of speech. Start here. American Speech-Language-Hearing Association As Australias largest child health research centre, we bring together the brightest minds to solve the biggest health issues for children. You could also explore the fields of medical and life science research, marketing, media and academia, or take on further studies in medicine, pharmacy, dentistry and veterinary science. WebUniversity of Kansas. Speech Pathologist in Murdoch | healthdirect Alcock KJ, Passingham RE, Watkins KE, Vargha-Khadem F. Oral dyspraxia in inherited speech and language impairment and acquired dysphasia. View Map Study at your own pace, wherever you want, whenever you want. Mogren , Havner C, Westerlund A, Sjgreen L, Agholme MB, Mcallister A. Eur Arch Paediatr Dent. Developmental language disorder may be missed as it often doesnt appear foremost as a language impairment. She also works clinically as a Speech Pathologist and volunteers with SAY: Australia. processing, oral-motor functioning, voice, fluency, dysphagia, and pragmatic To investigate the latent factors underlying signs of childhood apraxia of speech (CAS) in a group of 57 children with CAS. WebLoma Linda University Professional Office Building Murrieta Behavioral Medicine Center - Adult Partial Hospitalization & Outpatient Programs 28078 Baxter Rd., Suite 230, Respiratory Dr. Alan Ma, Clinical Geneticist, Department of Clinical Genetics, Childrens Hospital at Westmead, Sydney. J Neural Transm (Vienna). All participants showed at least five signs of CAS and were judged to have CAS by speech pathologists experienced in pediatric speech disorders. 2008 Jul 16;(3):CD006278. He has expertise in gene discovery for epilepsy, speech disorders and hearing loss. A speech pathology researcher explains the science and the misconceptions around this speechdisorder. Speech and language in bilateral perisylvian polymicrogyria: a systematic review. Aworld leader in diffusion MRI innovation and leader of the advanced MRI Development Group. For teens, getting access to speech pathology services depends on where you live. Houston, TX 77077 A total of 23/29 (79%) had cognitive abilities in the low average to extremely low range. They were all known to stutter. WebHolistic Speech Pathology Speech and language therapy service Ph: 0402 851 122. Atypical development of Brocas area in a large family with inherited stuttering. Braden RO, Leventer RJ, Jansen A, Scheffer IE, Morgan AT. MeSH Our vision is to develop better interventions so children with speech and language difficulties reach their full potential. Prof. Kirrie Ballard, Speech Pathologist, Discipline of Speech Pathology, Faculty of Health Sciences, University of Sydney, Sydney. Clipboard, Search History, and several other advanced features are temporarily unavailable. Researchers at the University of Sydney have, What causes stuttering? Webmurdoch university speech pathology. Participants' scores for each sign (the number of times that sign appeared during a child's speech sample) were converted to z-scores, then entered as variables into an exploratory factor analysis. WebMurdoch definition, British novelist and philosopher, born in Ireland. This site needs JavaScript to work properly. She is certified by the American Speech-Language-Hearing Association and licensed by the State of Texas. Patti has experience working Mol Psychiatry. 2013 Sep;161A(9):2321-6. doi: 10.1002/ajmg.a.36055. Epub 2022 Jul 1. Lottie has worked in clinical and research settings as a speech pathologist. Home. Unauthorized use of these marks is strictly prohibited. Differential diagnosis of children with suspected childhood apraxia of speech. 2021;29:56474. Dorsal language stream anomalies in an inherited speech disorder. Unable to load your collection due to an error, Unable to load your delegates due to an error. 13611 Skinner Road, Suite 250 The three-factor model had the lowest AIC and best fit the data. Back Submit. Settings include private practice, private schools and public schools. Epub 2013 Aug 5. Director of the Max Planck Institute for Psycholinguistics and Professor of Language and Genetics at the Donders Institute for Brain, Cognition and Behaviour in Nijmegen, the Netherlands. More than 1500 adults and children from the United Kingdom are being recruited for an Two research centres based at the Murdoch Childrens Research Centre that aim to understand Our team wish to thank families and clinicians for ongoing participation and support. government site. MeSH Careers. Cleland J, Wood S, Hardcastle W, Wishart J, Timmins C. Int J Lang Commun Disord. of receptive language, expressive language, articulation, phonological Diagnosis/testing: She attends continuing education classes to remain current on speech therapy FOIA Genetics of Stuttering Study - email us at After oblique rotation, syllable segmentation, slow rate, and stress errors loaded most highly on Factor 1. Cypress: Shriberg LD, Paul R, Black LM, van Santen JP. Murdoch Children's Research Institute acknowledges the Traditional Custodians of the land upon which we are located. Accessibility Online ahead of print. We at Murdoch University are proud to continue this long tradition. Murdoch University is located has, for thousands of years, been a place of learning. Some children will grow out of it, but others will have persistent communication difficulties. 1615 Cottage Landing Lane, Houston, Texas 77077, United States, Laura obtained her undergraduate degree in speech pathology from Stephen F. Austin State University in 1990 and a Master's degree in Communication Disorders from the University of Texas at Dallas during 1992. The speech of 57 children with CAS (aged 3;5-17;0) was coded for signs of CAS. Simon is an international leader in identifying gene pathways and mechanisms leading to speech and language disorders. Nicky Kilpatrick, Paediatric Dentist, Plastic Surgery Group, Murdoch Children's Research Institute, Melbourne. NHMRC Centre of Research Excellence for Pneumococcal Disease Control in the Asia-Pacific, CEBU research methods and software training. Explore our A-Z of child health guide, read stories from our community and browse videos, podcasts and webinars. This ideally involves multidisciplinary care by speech-language pathologists (to individualize care, which may include use of nonverbal support or alternative means of communication), developmental pediatricians (to help guide parents through appropriate behavior management strategies and individualized education plans), occupational therapists (to address fine motor impairments), and mental health specialists (to address issues such as anxiety and depression, which can occur). Before The methodological advances made at the Florey are being applied increasingly worldwide to further our understanding of the healthy brain and of how network connectivity is affected in disease. When people lose their speech, they can stop working and friends can drift away. Please enable it to take advantage of the complete set of features! Unauthorized use of these marks is strictly prohibited. Copyright 20102023, The Conversation US, Inc. & Morgan, A. T. (2022). WebProf Angela Morgan - Murdoch Children's Research Institute Home Researcher details Prof Angela Morgan Prof Angela Morgan Details Role Group Leader / Snr Princ Research Fellow Research area Genetics Group Speech & Language Top Publications St John, M, Amor, DJ, Morgan, AT. Stay informed with the latest research insights, technological advancements and innovations in child health from our research and scientific community. how to connect internet via bluetooth / the passion of the christ: resurrection / murdoch university speech pathology. All rights reserved. Associate Professor (Emeritus) of Bookshelf In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Ourgenetics of stuttering speech studyis the worlds largest survey of the impact of stuttering disorder, recruiting 3,000 adults and children who stutter from Australia and New Zealand. Our expansive research facilities, state-of-the-art technologies and unique location within The Royal Childrens Hospital, are some of the reasons were home to over 1,400 leading researchers and scientists. People who have trouble with their speech, say after a stroke, can find it challenging. Wexford Medical Centre, Suite 17-18 Level 1, 3 Barry Marshall Parade, MURDOCH, WA 6150, Unit 3, 62 Coolbellup Avenue, COOLBELLUP, WA 6163, St Paul's Shopping Centre, Suite 7, 3 La Fayette Boulevard, BIBRA LAKE, WA 6163, South Street Medical and Specialist Complex, Unit 1, 386 South Street, O'CONNOR, WA 6163, Booragoon Commercial Centre, 175 Davy Street, BOORAGOON, WA 6154, Booragoon Commercial Centre, Level 1 Lot 4-6, 175 179 Davy Street, BOORAGOON, WA 6154, 108 Pinetree Gully Road, WILLETTON, WA 6155, .css-1qupqhl{transition-property:var(--chakra-transition-property-common);transition-duration:var(--chakra-transition-duration-fast);transition-timing-function:var(--chakra-transition-easing-ease-out);cursor:pointer;outline:2px solid transparent;outline-offset:2px;-webkit-text-decoration:none;text-decoration:none;color:var(--chakra-colors-white);}.css-1qupqhl:hover,.css-1qupqhl[data-hover]{-webkit-text-decoration:underline;text-decoration:underline;}.css-1qupqhl:focus-visible,.css-1qupqhl[data-focus-visible]{box-shadow:var(--chakra-shadows-outline);}.css-1qupqhl:focus,.css-1qupqhl[data-focus]{outline-color:var(--chakra-colors-formControlFocus);outline-offset:1px;outline-width:2px;box-shadow:var(--chakra-shadows-none);border-radius:var(--chakra-radii-small);} 1800 022 222, We are a government-funded service, providing quality, approved health information and advice. Mariana has worked across clinical and research speech pathology settings, and is currently the Clinic Coordinator of the Speech Apraxia and Genetics clinic, a gene discovery clinic at The Royal Children's Hospital and MCRI. Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments. The Centre of Research Excellence in Speech and Language is an international collaboration of experts in the fields of speech pathology, paediatric neurology, neuroscience, genetics and bioinformatics. 2022 Jun 11;14(1):36. doi: 10.1186/s11689-022-09443-z. Johnson, J. L., Stoica, L., Liu, Y., Zhu, P. J., Bhattacharya, A., Buffington, S. A., Huq, R., Eissa, N. T., Larsson, O., Porse, B. T., Domingo, E., Nawaz, U., Carroll, R., Jolly, L., Scerri, T. S., Kim, H., Brignell, A., Coleman, M., Braden, R., Kini, U., Jackson, V., Baxter, A., Bahlo, M., Scheffer, I. E., Amor, D. J., Hildebrand, M. S., Bonnen, P. E., Beeton, C., Gecz, J., Morgan, A. T. & Costa-Mattioli, M. (2019). Feeling excited and grateful on #GlobalTractionDay She has also conducted several RCTs for child language disorder. 2016 Jul 18;7(7):CD006937. Centre of Research Excellence in Speech and Language, Vaccine and immunisation research group (VIRGO), Clinical Epidemiology & Biostatistics CEBU, Covid-19 Program of Research Steering Committee, Covid-19 research: Infection and immunity, Covid-19 research: Infection and transmission in children, Covid-19 research: Long term impacts of Covid-19, Covid-19 research: Low- and middle-income countries, Covid-19 research: Pregnancy and newborns, Covid-19 research: Vulnerable children & families, Paediatric Emergency Medicine Centre of Research Excellence, Centre of Research Excellence in Newborn Medicine, Centre of Research Excellence in Childhood Adversity, Centre of Research Excellence in Child Language, Centre of Research Excellence in Global Adolescent Health, Centre of Research Excellence in Neuromuscular Disorders, Early career researchers (ECR) launching pad, Stronger Futures Centre of Research Excellence, Clinical trial design and analysis: the basics and recent advances, Observational studies: Modern concepts & analytic methods, CRDO Workshops: Clinical research, skills & practice workshops, CRDO Core Workshops: Practical skills in research, Centre of Research Excellence in Speech and Language website, National Health and Medical Research Council, https://academic.oup.com/brain/advance-article-abstract/doi/10.1093/brain/awab364/6433677?redirectedFrom=fulltext, https://pubmed.ncbi.nlm.nih.gov/32345733/, https://pubmed.ncbi.nlm.nih.gov/30796815/, https://pubmed.ncbi.nlm.nih.gov/31585809/, https://pubmed.ncbi.nlm.nih.gov/29463886/. Watch the FULL film here: https://lnkd.in/e_JRnjz3. K99 DC017490/DC/NIDCD NIH HHS/United States, R01 DC008796/DC/NIDCD NIH HHS/United States, P50 DC018006/DC/NIDCD NIH HHS/United States, P50 DC013027/DC/NIDCD NIH HHS/United States, K24 DC016312/DC/NIDCD NIH HHS/United States, T32 DC013017/DC/NIDCD NIH HHS/United States. Researchers at The Murdoch Childrens Research Institute are studying the genetic causes of speech disorders. Dr. Georgie Paxton, Paediatrician, Royal Children's Hospital, Melbourne. WebShe was the first Speech Pathologist to be awarded a Fellowship with the Academy of the Social Sciences in Australia (2011), and the Australian Academy of Health and Medical The Weizmann Institute of Science GeneCards and MalaCards databases. Kids are Kids - Therapy and Education Centre, Straight Talk Speech Pathology - Bibra Lake. Saletti V, Bulgheroni S, D'Incerti L, Franceschetti S, Molteni B, Airaghi G, Pantaleoni C, D'Arrigo S, Riva D. J Child Neurol. and transmitted securely. Models were compared using the Akaike Information Criterion (AIC). Speech pathology News, Research and Analysis - The Conversation Find the award title and abbreviation for any course. We pay our respect to their Elders past, present and emerging. What did Moses, Marilyn Monroe, Winston Churchill, Claudius, Lewis Carroll and King George VI have in common? Autism spectrum disorder; Childhood apraxia of speech; Minimally verbal. Eur J Hum Genet. "Traction: Get a Grip On Your Business" has sold over 1 million copies so we're here to celebrate #GlobalTractionDay in honor of the book that has changed the lives of millions of business leaders, their employees, and families across the world. What is oral cancer, the condition John Farnham is being treatedfor? Not sure what direction to take with your studies or career? Bethesda, MD 20894, Web Policies of receptive language, expressive Accessibility Conclusions: We dont often give our eating habits much thought but the 8% of the population with swallowing disability need to plan carefully to ensure their food is the right texture and eaten at the right pace. Unable to load your collection due to an error, Unable to load your delegates due to an error. Speech Pathology Stuttering is a complex neurodevelopmental disorder that affects about 1 in 100 people across the world. Am J Med Genet A.
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