Michael Stephen Hildebrand (Michael S Hildebrand, Michael Hildebrand)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 31

Top Venues

University of Melbourne

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Melbourne Oct 31 2011

Australia

A/Professor :: Department of Medicine (Austin Health)

Publications

Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Lotte Kleinendorst, Ozair Abawi, Niels Vos, Elisabeth F C van Rossum, Saskia M Maas, Angela T Morgan, Michael Stephen Hildebrand, Jorge D Da Silva, Ralph J Florijn, Peter Lauffer, Jenny A Visser, Elisabeth F C van Rossum, Erica L T van den Akker, Mieke M van Haelst
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity. Clinical obesity (2024)
Lotte Kleinendorst, Ozair Abawi, Niels Vos, Elisabeth F C van Rossum, Saskia M Maas, Angela T Morgan, Michael Stephen Hildebrand, Jorge D Da Silva, Ralph J Florijn, Peter Lauffer, Jenny A Visser, Elisabeth F C van Rossum, Erica L T van den Akker, Mieke M van Haelst
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity. Clinical obesity 14 (4) (2024)
Angela T Morgan, David J Amor, Miya D St John, Ingrid Eileen Scheffer, Michael Stephen Hildebrand
Genetic architecture of childhood speech disorder: a review. Molecular psychiatry 29 (5) (2024)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open 9 (2) (2024)
Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Angela T Morgan, David J Amor, Miya D St John, Ingrid Eileen Scheffer, Michael Stephen Hildebrand
Genetic architecture of childhood speech disorder: a review. Molecular psychiatry 29 (5) (2024)
Emma Young, Rebekah V Harris, Nico Lieffering, Guillem de Valles-Ibáñez, Denis M Nyaga, Mark F Bennett, Michael Stephen Hildebrand, Ingrid Eileen Scheffer, Lynette Grant Sadleir
SCN8A self-limited infantile epilepsy: Does epilepsy resolve? Epilepsia (2024)
Angela T Morgan, David J Amor, Miya D St John, Ingrid Eileen Scheffer, Michael Stephen Hildebrand
Genetic architecture of childhood speech disorder: a review. Molecular psychiatry (2024)
Angela T Morgan, David J Amor, Miya D St John, Ingrid Eileen Scheffer, Michael Stephen Hildebrand
Genetic architecture of childhood speech disorder: a review. Molecular psychiatry 29 (5) (2024)
Emma Young, Rebekah V Harris, Nico Lieffering, Guillem de Valles-Ibáñez, Denis M Nyaga, Mark F Bennett, Michael Stephen Hildebrand, Ingrid Eileen Scheffer, Lynette Grant Sadleir
SCN8A self-limited infantile epilepsy: Does epilepsy resolve? Epilepsia 65 (8) (2024)
Daisy G Y Thompson-Lake, Frederique J Liegeois, Ruth O Braden, Graeme D Jackson, Samantha J Turner, Lottie Morison, Michael Stephen Hildebrand, Ingrid Eileen Scheffer, Angela T Morgan
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants. Neurology. Genetics 10 (2) (2024)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open 9 (2) (2024)
Emma Young, Rebekah V Harris, Nico Lieffering, Guillem de Valles-Ibáñez, Denis M Nyaga, Mark F Bennett, Michael Stephen Hildebrand, Ingrid Eileen Scheffer, Lynette Grant Sadleir
SCN8A self-limited infantile epilepsy: Does epilepsy resolve? Epilepsia 65 (8) (2024)
Lotte Kleinendorst, Ozair Abawi, Niels Vos, Elisabeth F C van Rossum, Saskia M Maas, Angela T Morgan, Michael Stephen Hildebrand, Jorge D Da Silva, Ralph J Florijn, Peter Lauffer, Jenny A Visser, Elisabeth F C van Rossum, Erica L T van den Akker, Mieke M van Haelst
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity. Clinical obesity 14 (4) (2024)
Angela T Morgan, David J Amor, Miya D St John, Ingrid Eileen Scheffer, Michael Stephen Hildebrand
Genetic architecture of childhood speech disorder: a review. Molecular psychiatry 29 (5) (2024)
Daisy G Y Thompson-Lake, Frederique J Liegeois, Ruth O Braden, Graeme D Jackson, Samantha J Turner, Lottie Morison, Michael Stephen Hildebrand, Ingrid Eileen Scheffer, Angela T Morgan
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants. Neurology. Genetics 10 (2) (2024)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open 9 (2) (2024)
Angela T Morgan, David J Amor, Miya D St John, Ingrid Eileen Scheffer, Michael Stephen Hildebrand
Genetic architecture of childhood speech disorder: a review. Molecular psychiatry (2024)
Angela T Morgan, Thomas S Scerri, Adam P Vogel, Christopher A Reid, Mara Quach, Victoria E Jackson, Chaseley McKenzie, Emma L Burrows, Mark F Bennett, Samantha J Turner, Sheena Reilly, Sarah E Horton, Susan Block, Elaina Kefalianos, Carlos Frigerio-Domingues, Eduardo Sainz, Kristin A Rigbye, Travis J Featherby, Kay L Richards, Andrew Kueh, Marco J Herold, Mark A Corbett, Jozef Gecz, Ingo Helbig, Daisy G Y Thompson-Lake, Frédérique J Liégeois, Robert J Morell, Andrew Hung, Dennis Drayna, Ingrid E Scheffer, David K Wright, Melanie Bahlo, Michael Stephen Hildebrand
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. Brain : a journal of neurology (2023)
Antony Kaspi, Michael Stephen Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E Fisher, David J Amor, Ingrid Eileen Scheffer, Melanie Bahlo, Angela T Morgan
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular psychiatry (2023)
Antony Kaspi, Michael Stephen Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E Fisher, David J Amor, Ingrid Eileen Scheffer, Melanie Bahlo, Angela T Morgan
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular psychiatry (2023)
Denis M Nyaga, Michael Stephen Hildebrand, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme, Heather C Mefford, Mark F Bennett, Melanie Bahlo, Lynette Grant Sadleir
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia open (2023)
Erwin Alexander van Vliet, Michael Stephen Hildebrand, James D Mills, Gary P Brennan, Tore Eid, Susan A Masino, Vicky Holets Whittemore, Laura Bindila, Kevin K W Wang, Manisha Patel, Piero Perucca, Christopher A Reid
A companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force. Epilepsia open (2022)
Timothy E Green, Mareike Schimmel, Susanna Schubert, Johannes R Lemke, Mark F Bennett, Michael Stephen Hildebrand, Samuel Frank Berkovic
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. European journal of human genetics : EJHG 30 (3) (2022)
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. American journal of medical genetics. Part A 188 (12) (2022)
Laura Bindila, Tore Eid, James D Mills, Michael Stephen Hildebrand, Gary P Brennan, Susan A Masino, Vicky Holets Whittemore, Piero Perucca, Christopher A Reid, Manisha Patel, Kevin K W Wang, Erwin Alexander van Vliet
A companion to the preclinical common data elements for proteomics, lipidomics, and metabolomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force. Epilepsia open (2022)
Antony Kaspi, Michael Stephen Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E Fisher, David J Amor, Ingrid Eileen Scheffer, Melanie Bahlo, Angela T Morgan
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular psychiatry (2022)
Zimeng Ye, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Michael Stephen Hildebrand
Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing. Annals of neurology 90 (4) (2021)
Natasha J Brown, Zimeng Ye, Chloe Alice Stutterd, Sureshni I Jayasinghe, Amy Schneider, Saul Mullen, Simone A Mandelstam, Michael Stephen Hildebrand
Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome. Cold Spring Harbor molecular case studies 7 (6) (2021)
Else Eising, Amaia Carrión-Castillo, Arianna Vino, Edythe A Strand, Kathy J Jakielski, Thomas S Scerri, Michael Stephen Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer, Clyde Francks, Melanie Bahlo, Ingrid Eileen Scheffer, Angela T Morgan, Lawrence D Shriberg, Simon E Fisher
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular psychiatry 24 (7) (2018)

Michael Stephen Hildebrand.css-eqlu8i{font-size:small;padding-left:4px;} (Michael S Hildebrand, Michael Hildebrand)

Publication Activity (10 Years)

Top Topics

Top Venues

Michael Stephen Hildebrand (Michael S Hildebrand, Michael Hildebrand)