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Progress in the genetics of autism spectrum disorder.
Published in:
2018
By:
- Woodbury‐Smith, Marc;
- Scherer, Stephen W.;
- Woodbury-Smith, Marc
Publication type:
journal article
Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5.
Published in:
Development & Psychopathology, 2021, v. 33, n. 2, p. 625, doi. 10.1017/S0954579420002047
By:
- Volkmar, Fred R.;
- Woodbury-Smith, Marc;
- Macari, Suzanne L.;
- Øien, Roald A.;
- Cicchetti, Dante;
- Luthar, Suniya S.;
- Burack, Jacob A.
Publication type:
Article
Vulnerability to Ideologically-Motivated Violence Among Individuals With Autism Spectrum Disorder.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.873121
By:
- Woodbury-Smith, Marc R.;
- Loftin, Rachel;
- Westphal, Alexander;
- Volkmar, Fred R.
Publication type:
Article
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 5, p. 268, doi. 10.1002/ajmg.b.32785
By:
- Woodbury‐Smith, Marc;
- Zarrei, Mehdi;
- Wei, John;
- Thiruvahindrapuram, Bhooma;
- O'Connor, Irene;
- Paterson, Andrew D.;
- Yuen, Ryan K. C.;
- Dastan, Jila;
- Stavropoulos, Dimitri J.;
- Howe, Jennifer L.;
- Thompson, Ann;
- Parlier, Morgan;
- Fernandez, Bridget;
- Piven, Joseph;
- Anagnostou, Evdokia;
- Scherer, Stephen W.;
- Vieland, Veronica J.;
- Szatmari, Peter
Publication type:
Article
Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Published in:
Genes, Brain & Behavior, 2024, v. 23, n. 1, p. 1, doi. 10.1111/gbb.12882
By:
- Mušálková, Dita;
- Přistoupilová, Anna;
- Jedličková, Ivana;
- Hartmannová, Hana;
- Trešlová, Helena;
- Nosková, Lenka;
- Hodaňová, Kateřina;
- Bittmanová, Petra;
- Stránecký, Viktor;
- Jiřička, Václav;
- Langmajerová, Michaela;
- Woodbury‐Smith, Marc;
- Zarrei, Mehdi;
- Trost, Brett;
- Scherer, Stephen W.;
- Bleyer, Anthony J.;
- Vevera, Jan;
- Kmoch, Stanislav
Publication type:
Article
Rare copy number variation in extremely impulsively violent males.
Published in:
Genes, Brain & Behavior, 2019, v. 18, n. 6, p. N.PAG, doi. 10.1111/gbb.12536
By:
- Vevera, Jan;
- Zarrei, Mehdi;
- Hartmannová, Hana;
- Jedličková, Ivana;
- Mušálková, Dita;
- Přistoupilová, Anna;
- Oliveriusová, Petra;
- Trešlová, Helena;
- Nosková, Lenka;
- Hodaňová, Kateřina;
- Stránecký, Viktor;
- Jiřička, Václav;
- Preiss, Marek;
- Příhodová, Kateřina;
- Šaligová, Jana;
- Wei, John;
- Woodbury‐Smith, Marc;
- Bleyer, Anthony J.;
- Scherer, Stephen W.;
- Kmoch, Stanislav
Publication type:
Article
Common pitfalls, and how to avoid them, in child and adolescent psychopharmacology: Part II.
Published in:
Journal of Psychopharmacology, 2024, v. 38, n. 4, p. 318, doi. 10.1177/02698811241239596
By:
- Cortese, Samuele;
- Besag, Frank MC;
- Clark, Bruce;
- Hollis, Chris;
- Kilgariff, Joe;
- Moreno, Carmen;
- Nicholls, Dasha;
- Wilkinson, Paul;
- Woodbury-Smith, Marc;
- Sharma, Aditya
Publication type:
Article
Common pitfalls, and how to avoid them, in child and adolescent psychopharmacology: Part I.
Published in:
Journal of Psychopharmacology, 2024, v. 38, n. 4, p. 311, doi. 10.1177/02698811241239582
By:
- Cortese, Samuele;
- Besag, Frank MC;
- Clark, Bruce;
- Hollis, Chris;
- Kilgariff, Joe;
- Moreno, Carmen;
- Nicholls, Dasha;
- Wilkinson, Paul;
- Woodbury-Smith, Marc;
- Sharma, Aditya
Publication type:
Article
Common practical questions – and answers – at the British Association for Psychopharmacology child and adolescent psychopharmacology course.
Published in:
Journal of Psychopharmacology, 2023, v. 37, n. 2, p. 119, doi. 10.1177/02698811221140005
By:
- Cortese, Samuele;
- Besag, Frank MC;
- Clark, Bruce;
- Hollis, Chris;
- Kilgariff, Joseph;
- Moreno, Carmen;
- Nicholls, Dasha;
- Wilkinson, Paul;
- Woodbury-Smith, Marc;
- Sharma, Aditya
Publication type:
Article
Managing anxiety and depressive symptoms in adults with autism-spectrum disorders.
Published in:
2011
By:
- Boyd, Kerry;
- Woodbury-Smith, Marc;
- Szatmari, Peter
Publication type:
Case Study
Autism spectrum disorders, schizophrenia and diagnostic confusion.
Published in:
Journal of Psychiatry & Neuroscience, 2010, v. 35, n. 5, p. 360, doi. 10.1503/jpm.100130
By:
- Woodbury-Smith, Marc R.;
- Boyd, Kerry;
- Szatmari, Peter
Publication type:
Article
Improving the uptake of health screening among individuals with intellectual disability.
Published in:
2016
By:
- Woodbury‐Smith, Marc
Publication type:
journal article
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Published in:
Human Genetics, 2015, v. 134, n. 2, p. 191, doi. 10.1007/s00439-014-1513-6
By:
- Woodbury-Smith, Marc;
- Paterson, Andrew;
- Thiruvahindrapduram, Bhooma;
- Lionel, Anath;
- Marshall, Christian;
- Merico, Daniele;
- Kellam, Barbara;
- Tammimies, Kristiina;
- Walker, Susan;
- Yuen, Ryan;
- Uddin, Mohammed;
- Howe, Jennifer;
- Scherer, Stephen;
- Fernandez, Bridget;
- Whitten, Kathy;
- Duku, Eric;
- O'Conner, Irene;
- Chrysler, Christina;
- Thompson, Ann;
- Sutcliffe, James
Publication type:
Article
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00173-0
By:
- Akter, Hosneara;
- Hossain, Mohammad Shahnoor;
- Dity, Nushrat Jahan;
- Rahaman, Md. Atikur;
- Furkan Uddin, K. M.;
- Nassir, Nasna;
- Begum, Ghausia;
- Hameid, Reem Abdel;
- Islam, Muhammad Sougatul;
- Tusty, Tahrima Arman;
- Basiruzzaman, Mohammad;
- Sarkar, Shaoli;
- Islam, Mazharul;
- Jahan, Sharmin;
- Lim, Elaine T.;
- Woodbury-Smith, Marc;
- Stavropoulos, Dimitri James;
- O'Rielly, Darren D.;
- Berdeiv, Bakhrom K.;
- Nurun Nabi, A. H. M.
Publication type:
Article
Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0020-9
By:
- Woodbury-Smith, Marc;
- Nicolson, Rob;
- Zarrei, Mehdi;
- Yuen, Ryan K. C.;
- Walker, Susan;
- Howe, Jennifer;
- Uddin, Mohammed;
- Hoang, Ny;
- Buchanan, Janet A.;
- Chrysler, Christina;
- Thompson, Ann;
- Szatmari, Peter;
- Scherer, Stephen W.
Publication type:
Article
Editorial: Training in Autism Among First Responders.
Published in:
Journal of Autism & Developmental Disorders, 2024, v. 54, n. 4, p. 1233, doi. 10.1007/s10803-022-05855-x
By:
- Woodbury-Smith, Marc R.;
- Westphal, Alexander;
- Loftin, Rachel
Publication type:
Article
An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder.
Published in:
Journal of Autism & Developmental Disorders, 2021, v. 51, n. 7, p. 2392, doi. 10.1007/s10803-020-04703-0
By:
- Rahaman, Md. Ashiquir;
- Lopa, Maksuda;
- Uddin, K. M. Furkan;
- Baqui, Md. Abdul;
- Keya, Selina Parvin;
- Faruk, Md. Omar;
- Sarker, Shaoli;
- Basiruzzaman, Mohammed;
- Islam, Mazharul;
- AlBanna, Ammar;
- Jahan, Nargis;
- Chowdhury, M. A. K. Azad;
- Saha, Narayan;
- Hussain, Manzoor;
- Colombi, Costanza;
- O'Rielly, Darren;
- Woodbury-Smith, Marc;
- Ghaziuddin, Mohammad;
- Rahman, Mohammad Mizanur;
- Uddin, Mohammed
Publication type:
Article
A Systematic Review of What Barriers and Facilitators Prevent and Enable Physical Healthcare Services Access for Autistic Adults.
Published in:
Journal of Autism & Developmental Disorders, 2019, v. 49, n. 8, p. 3387, doi. 10.1007/s10803-019-04049-2
By:
- Mason, David;
- Ingham, Barry;
- Urbanowicz, Anna;
- Michael, Cos;
- Birtles, Heather;
- Woodbury-Smith, Marc;
- Brown, Toni;
- James, Ian;
- Scarlett, Clare;
- Nicolaidis, Christina;
- Parr, Jeremy R.
Publication type:
Article
Autism Spectrum Disorder (ASD) and Unlawful Behaviour: Where Do We Go from Here?
Published in:
Journal of Autism & Developmental Disorders, 2014, v. 44, n. 11, p. 2734, doi. 10.1007/s10803-014-2216-5
By:
- Woodbury-Smith, Marc;
- Dein, Kalpana
Publication type:
Article
Editorial: ASD and Illegal Behaviors.
Published in:
2014
By:
- Woodbury-Smith, Marc
Publication type:
Editorial
The Adult Asperger Assessment (AAA): A Diagnostic Method.
Published in:
Journal of Autism & Developmental Disorders, 2005, v. 35, n. 6, p. 807, doi. 10.1007/s10803-005-0026-5
By:
- Baron-Cohen, Simon;
- Wheelwright, Sally;
- Robinson, Janine;
- Woodbury-Smith, Marc
Publication type:
Article
Asperger’s Syndrome: A Comparison of Clinical Diagnoses and Those Made According to the ICD-10 and DSM-IV.
Published in:
Journal of Autism & Developmental Disorders, 2005, v. 35, n. 2, p. 235, doi. 10.1007/s10803-004-2002-x
By:
- Woodbury-Smith, Marc;
- Klin, Ami;
- Volkmar, Fred
Publication type:
Article
A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.
Published in:
Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9238-9
By:
- Woodbury-Smith, Marc;
- Paterson, Andrew D.;
- O'Connor, Irene;
- Zarrei, Mehdi;
- Yuen, Ryan K. C.;
- Howe, Jennifer L;
- Thompson, Ann;
- Parlier, Morgan;
- Fernandez, Bridget;
- Piven, Joseph;
- Scherer, Stephen W.;
- Vieland, Veronica;
- Szatmari, Peter
Publication type:
Article
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0881-0
By:
- Akter, Hosneara;
- Sultana, Nasima;
- Martuza, Nazrana;
- Siddiqua, Aaysha;
- Dity, Nushrat Jahan;
- Rahaman, Md. Atikur;
- Samara, Bisan;
- Sayeed, Ahmed;
- Basiruzzaman, Mohammed;
- Rahman, Mohammad Mizanur;
- Rashidul Hoq, Md.;
- Amin, Md. Robed;
- Baqui, Md. Abdul;
- Woodbury-Smith, Marc;
- Uddin, K. M. Furkan;
- Islam, Syed S.;
- Awwal, Rayhana;
- Berdiev, Bakhrom K.;
- Uddin, Mohammed
Publication type:
Article
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
Published in:
G3: Genes | Genomes | Genetics, 2018, v. 8, n. 4, p. 1115, doi. 10.1534/g3.118.200080
By:
- Uddin, Mohammed;
- Woodbury-Smith, Marc;
- Chan, Ada J. S.;
- Albanna, Ammar;
- Minassian, Berge;
- Boelman, Cyrus;
- Scherer, Stephen W.
Publication type:
Article
Artificial intelligence for precision medicine in neurodevelopmental disorders.
Published in:
NPJ Digital Medicine, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41746-019-0191-0
By:
- Uddin, Mohammed;
- Wang, Yujiang;
- Woodbury-Smith, Marc
Publication type:
Article
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).
Published in:
2018
By:
- Uddin, K. M. Furkan;
- Amin, Robed;
- Majumder, Sabbiha Nadia;
- Aleem, Mohammad Abdul;
- Rahaman, Atikur;
- Dity, Nushrat Jahan;
- Baqui, M. D. Abdul;
- Akter, Hosneara;
- Rahman, Muhammad Mizanur;
- Woodbury‐Smith, Marc;
- Scherer, Stephen;
- Uddin, Mohammed
Publication type:
Case Study
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Published in:
Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00368-7
By:
- Nassir, Nasna;
- Bankapur, Asma;
- Samara, Bisan;
- Ali, Abdulrahman;
- Ahmed, Awab;
- Inuwa, Ibrahim M.;
- Zarrei, Mehdi;
- Safizadeh Shabestari, Seyed Ali;
- AlBanna, Ammar;
- Howe, Jennifer L.;
- Berdiev, Bakhrom K.;
- Scherer, Stephen W.;
- Woodbury-Smith, Marc;
- Uddin, Mohammed
Publication type:
Article
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.954
By:
- Rahman, Muhammad M.;
- Uddin, KM Furkan;
- Al Jezawi, Nesreen K.;
- Karuvantevida, Noushad;
- Akter, Hosneara;
- Dity, Nushrat J.;
- Rahaman, Md. Ashiquir;
- Begum, Maksuda;
- Rahaman, Md. Atikur;
- Baqui, Md. Abdul;
- Salwa, Zeena;
- Islam, Serajul;
- Woodbury‐Smith, Marc;
- Basiruzzaman, Mohammed;
- Uddin, Mohammed
Publication type:
Article
Region-Specific KCC2 Rescue by rhIGF-1 and Oxytocin in a Mouse Model of Rett Syndrome.
Published in:
Cerebral Cortex, 2022, v. 32, n. 13, p. 2885, doi. 10.1093/cercor/bhab388
By:
- Gigliucci, Valentina;
- Teutsch, Jasper;
- Woodbury-Smith, Marc;
- Luoni, Mirko;
- Busnelli, Marta;
- Chini, Bice;
- Banerjee, Abhishek
Publication type:
Article
Electronic Health Record Breaches as Social Indicators.
Published in:
Social Indicators Research, 2019, v. 141, n. 2, p. 861, doi. 10.1007/s11205-018-1837-z
By:
- Koczkodaj, Waldemar W.;
- Mazurek, Mirosław;
- Strzałka, Dominik;
- Wolny-Dominiak, Alicja;
- Woodbury-Smith, Marc
Publication type:
Article
How to improve healthcare for autistic people: A qualitative study of the views of autistic people and clinicians.
Published in:
Autism: The International Journal of Research & Practice, 2021, v. 25, n. 3, p. 774, doi. 10.1177/1362361321993709
By:
- Mason, David;
- Ingham, Barry;
- Birtles, Heather;
- Michael, Cos;
- Scarlett, Clare;
- James, Ian A;
- Brown, Toni;
- Woodbury-Smith, Marc;
- Wilson, Colin;
- Finch, Tracy;
- Parr, Jeremy R
Publication type:
Article
Asperger syndrome.
Published in:
European Child & Adolescent Psychiatry, 2009, v. 18, n. 1, p. 2, doi. 10.1007/s00787-008-0701-0
By:
- Woodbury-Smith, Marc R.;
- Volkmar, Fred R.
Publication type:
Article
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Published in:
Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0175-3
By:
- Woodbury-Smith, Marc;
- Deneault, Eric;
- Yuen, Ryan K. C.;
- Walker, Susan;
- Zarrei, Mehdi;
- Pellecchia, Giovanna;
- Howe, Jennifer L.;
- Ny Hoang;
- Uddin, Mohammed;
- Marshall, Christian R.;
- Chrysler, Christina;
- Thompson, Ann;
- Szatmari, Peter;
- Scherer, Stephen W.
Publication type:
Article
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
Published in:
Genes, 2022, v. 13, n. 2, p. 207, doi. 10.3390/genes13020207
By:
- Woodbury-Smith, Marc;
- Lamoureux, Sylvia;
- Begum, Ghausia;
- Nassir, Nasna;
- Akter, Hosneara;
- O'Rielly, Darren D.;
- Rahman, Proton;
- Wintle, Richard F.;
- Scherer, Stephen W.;
- Uddin, Mohammed
Publication type:
Article
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Published in:
JAMA: Journal of the American Medical Association, 2015, v. 314, n. 9, p. 895, doi. 10.1001/jama.2015.10078
By:
- Tammimies, Kristiina;
- Marshall, Christian R.;
- Walker, Susan;
- Kaur, Gaganjot;
- Thiruvahindrapuram, Bhooma;
- Lionel, Anath C.;
- Yuen, Ryan K. C.;
- Uddin, Mohammed;
- Roberts, Wendy;
- Weksberg, Rosanna;
- Woodbury-Smith, Marc;
- Zwaigenbaum, Lonnie;
- Anagnostou, Evdokia;
- Zhuozhi Wang;
- Wei, John;
- Howe, Jennifer L.;
- Gazzellone, Matthew J.;
- Lau, Lynette;
- Sung, Wilson W. L.;
- Whitten, Kathy
Publication type:
Article
Autism spectrum disorder: advances in evidence-based practice.
Published in:
Canadian Medical Association Journal (CMAJ), 2014, v. 186, n. 7, p. 509, doi. 10.1503/cmaj.121756
By:
- Anagnostou, Evdokia;
- Zwaigenbaum, Lonnie;
- Szatmari, Peter;
- Fombonne, Eric;
- Fernandez, Bridget A.;
- Woodbury-Smith, Marc;
- Brian, Jessica;
- Bryson, Susan;
- Smith, Isabel M.;
- Drmic, Irene;
- Buchanan, Janet A.;
- Roberts, Wendy;
- Scherer, Stephen W.
Publication type:
Article
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.
Published in:
Neurogenetics, 2022, v. 23, n. 2, p. 137, doi. 10.1007/s10048-022-00689-2
By:
- Nassir, Nasna;
- Sati, Isra;
- Al Shaibani, Shaiban;
- Ahmed, Awab;
- Almidani, Omar;
- Akter, Hosneara;
- Woodbury-Smith, Marc;
- Tayoun, Ahmad Abou;
- Uddin, Mohammed;
- Albanna, Ammar
Publication type:
Article
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-48982-w
By:
- Sarker, Shaoli;
- Eshaque, Tamannyat Binte;
- Soorajkumar, Anjana;
- Nassir, Nasna;
- Zehra, Binte;
- Kanta, Shayla Imam;
- Rahaman, Md Atikur;
- Islam, Amirul;
- Akter, Shimu;
- Ali, Mohammad Kawsar;
- Mim, Rabeya Akter;
- Uddin, K. M. Furkan;
- Chowdhury, Mohammod Shah Jahan;
- Shams, Nusrat;
- Baqui, Md. Abdul;
- Lim, Elaine T.;
- Akter, Hosneara;
- Woodbury-Smith, Marc;
- Uddin, Mohammed
Publication type:
Article
Clinical heterogeneity among people with high functioning autism spectrum conditions: evidence favouring a continuous severity gradient.
Published in:
Behavioral & Brain Functions, 2008, v. 4, p. 1, doi. 10.1186/1744-9081-4-11
By:
- Ring, Howard;
- Woodbury-Smith, Marc;
- Watson, Peter;
- Wheelwright, Sally;
- Baron-Cohen, Simon
Publication type:
Article

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