Thomas Scerri

Atypical development of Broca's area in a large family with inherited stuttering

Daisy GY Thompson-Lake, Thomas S Scerri, Susan Block, Samantha J Turner, Sheena Reilly, Elaina Kefalianos, Alexandra F Bonthrone, Ingo Helbig, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand, Frederique J Liegeois, Angela T Morgan

Journal article  |  2022  |  BRAIN

Developmental stuttering is a condition of speech dysfluency, characterized by pauses, blocks, prolongations and sound or syllable..

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O Braden, Samantha Turner, Kristin A Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry-Fielder, Georgia Paxton, Michael Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma, et al.

Journal article  |  2020  |  NEUROLOGY

OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despit..

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Tahir N Khan, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid E Scheffer, Melanie Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havrankova, Anna Fecikova, Tim M Strom, Vladimir Han, et al.

Journal article  |  2019  |  GENETICS IN MEDICINE

PURPOSE: The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the..

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Else Eising, Amaia Carrion-Castillo, Arianna Vino, Edythe A Strand, Kathy J Jakielski, Thomas S Scerri, Michael S Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer, Clyde Francks, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan, Lawrence D Shriberg, Simon E Fisher

Journal article  |  2019  |  MOLECULAR PSYCHIATRY

Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. O..

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2

Charlotte A Slade, Catriona McLean, Thomas Scerri, Binh Giang Tran, Steven Megaloudis, Alexander Strathmore, Jessica C Tempany, Katherine Nicholls, Colleen D'Arcy, Melanie Bahlo, Philip D Hodgkin, Jo A Douglass, Vanessa L Bryant

Journal article  |  2019  |  JOURNAL OF CLINICAL IMMUNOLOGY

Common variable immunodeficiency is the most prevalent of the primary immunodeficiency diseases, yet its pathogenesis is largely p..

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Ivo JHM de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander PA Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice AM van Steensel

Journal article  |  2018  |  HUMAN MOLECULAR GENETICS

Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joi..

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, Roberto Bonelli, Lawrence A Yannuzzi, Martin Friedlander, Catherine A Egan, Marcus Fruttiger, Mark Leppert, Rando Allikmets, Melanie Bahlo

Journal article  |  2017  |  NATURE GENETICS

Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative ..

Primary immunodeficiencies of the NF-kappaB pathway

Charlotte A Slade, Jessica Tempany, Manfred Fliegauf, See-Tarn Woon, Thomas Scerri, Euphemia Leung, Rohan V Ameratunga, Jos WM van der Meer, Jo Douglass, Bodo Grimbacher, Philip D Hodgkin, Vanessa L Bryant

Journal article  |  2017  |  Pathology

Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3

Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernandez, Jessica R Riseley, Greta Gillies, Kate Pope, Hanna van Roozendaal, Julian I Heng, Simone A Mandelstam, George McGillivray, Duncan MacGregor, Lakshminarayanan Kannan, Wirginia Maixner, A Simon Harvey, David J Amor, Martin B Delatycki, Peter B Crino, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article  |  2016  |  ANNALS OF NEUROLOGY

We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage an..

Haploinsufficiency of the NF-kappa B1 Subunit p50 in Common Variable Immunodeficiency

Manfred Fliegauf, Vanessa L Bryant, Natalie Frede, Charlotte Slade, See-Tarn Woon, Klaus Lehnert, Sandra Winzer, Alla Bulashevska, Thomas Scerri, Euphemia Leung, Anthony Jordan, Baerbel Keller, Esther de Vries, Hongzhi Cao, Fang Yang, Alejandro A Schaeffer, Klaus Warnatz, Peter Browett, Jo Douglass, Rohan V Ameratunga, et al.

Journal article  |  2015  |  AMERICAN JOURNAL OF HUMAN GENETICS

Common variable immunodeficiency (CVID), characterized by recurrent infections, is the most prevalent symptomatic antibody deficie..