Andrew H Crosby (Andrew Crosby, Emma Baple, Emma L Baple)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 26

Top Venues

Journal of medical genetics

American journal of medical genetics. Part A

Nature medicine

Brain : a journal of neurology

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

Publications

Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Andrew H Crosby, Heymut Omran
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement. Cells 13 (12) (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine (2024)
Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Andrew H Crosby, Heymut Omran
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement. Cells 13 (12) (2024)
Reham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, James Fasham, Maysa Alawneh, Joseph Leslie, Mosab Maree, Adam Gunning, Deyala Z Zayed, Nikol Voutsina, Lucy McGavin, Reem Sawafta, Martina Owens, Wisam Baker, Peter Turnpenny, Fida' Al-Hijawi, Andrew H Crosby, Andrew H Crosby, Lettie E Rawlins
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. American journal of medical genetics. Part A (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine 30 (7) (2024)
Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Andrew H Crosby, Heymut Omran
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement. Cells 13 (12) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics 61 (8) (2024)
Reham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, James Fasham, Maysa Alawneh, Joseph Leslie, Mosab Maree, Adam Gunning, Deyala Z Zayed, Nikol Voutsina, Lucy McGavin, Reem Sawafta, Martina Owens, Wisam Baker, Peter Turnpenny, Fida' Al-Hijawi, Andrew H Crosby, Andrew H Crosby, Lettie E Rawlins
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. American journal of medical genetics. Part A 194 (7) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics (2024)
Reham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, James Fasham, Maysa Alawneh, Joseph Leslie, Mosab Maree, Adam Gunning, Deyala Z Zayed, Nikol Voutsina, Lucy McGavin, Reem Sawafta, Martina Owens, Wisam Baker, Peter Turnpenny, Fida' Al-Hijawi, Andrew H Crosby, Andrew H Crosby, Lettie E Rawlins
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. American journal of medical genetics. Part A 194 (7) (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine 30 (7) (2024)
Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Stephen J Sawiak, Phillip H Iffland, Malin H L Andersson, Caleb P Bupp, Emma L Cambridge, Eve L Coomber, Ian Ellis, Johanna C Herkert, Holly Ironfield, Logan Jory, Perrine F Kretz, Sarina G Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M Scott, Helen Stewart, Andrew Y Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J Lelliott, Peter B Crino, Binnaz Yalcin, Andrew H Crosby, Emma L Baple, Darren W Logan, Matthew E Hurles, Sebastian S Gerety
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain : a journal of neurology (2023)
James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Nderim Kryeziu, Saskia B Wortmann, Joseph S Leslie, Nishanka Ubeyratna, Grazia Maria Simonetta Mancini, Marjon van Slegtenhorst, Martina Wilke, Tobias B Haack, Hanan Shamseldin, Joseph G Gleeson, Mohammed A Al-Muhaizea, Imad Dweikat, Bassam Abu-Libdeh, Muhannad Daana, Maha S Zaki, Matthew N Wakeling, Lucy McGavin, Peter D Turnpenny, Fowzan Sami Alkuraya, Henry Houlden, Peter Schlattmann, Kai Kaila, Andrew H Crosby, Emma L Baple, Christian A Hübner
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain : a journal of neurology (2023)
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph S Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Andrew H Crosby
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. PLoS genetics 18 (3) (2022)
Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, N Simon Thomas, Jonathan Callaway, James Deline, J Arjuna Ratnayaka, Diana Baralle, Melanie A Schmitt, Chelsea S Norman, Sheri Hammond, Gaurav V Harlalka, Sarah Ennis, Harold E Cross, Olivia Wenger, Andrew H Crosby, Andrew H Crosby, James E Self
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ genomic medicine 7 (1) (2022)
Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almundher Al-Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R S Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L Baple
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain : a journal of neurology 145 (9) (2022)
Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan M Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna W Harries, Andrew H Crosby, Andrew H Crosby
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. PLoS genetics 17 (9) (2021)
Siying Lin, James Fasham, Fida' Al-Hijawi, Nouar Qutob, Adam Gunning, Joseph S Leslie, Lucy McGavin, Nishanka Ubeyratna, Wisam Baker, Ramez Zeid, Peter D Turnpenny, Andrew H Crosby, Andrew H Crosby, Reham Khalaf-Nazzal
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency. European journal of human genetics : EJHG 29 (10) (2021)
James Fasham, Joseph S Leslie, James W Harrison, James Deline, Katie B Williams, Ashley Kuhl, Jessica Scott Schwoerer, Harold E Cross, Andrew H Crosby, Andrew H Crosby
No association between SCN9A and monogenic human epilepsy disorders. PLoS genetics 16 (11) (2020)
Joseph S Leslie, Lettie E Rawlins, Barry A Chioza, Oluwaseun R Olubodun, Claire G Salter, James Fasham, Hannah F Jones, Harold E Cross, Simon Lam, Gaurav V Harlalka, Martina M A Muggenthaler, Andrew H Crosby, Andrew H Crosby
MNS1 variant associated with situs inversus and male infertility. European journal of human genetics : EJHG 28 (1) (2019)
Aaron R Jeffries, Reza Maroofian, Claire G Salter, Barry A Chioza, Harold E Cross, Michael A Patton, Emma L Dempster, I Karen Temple, Deborah J G Mackay, Faisal I Rezwan, Lise Aksglaede, Diana Baralle, Tabib Dabir, Matthew F Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew H Crosby, Andrew H Crosby
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome research 29 (7) (2019)
James Fasham, Gavin Arno, Siying Lin, Mingchu Xu, Keren J Carss, Sarah Hull, Amelia Lane, Anthony G Robson, Olivia Wenger, Jay E Self, Gaurav V Harlalka, Claire G Salter, Lynn Schema, Timothy J Moss, Michael E Cheetham, Anthony T Moore, F Lucy Raymond, Rui Chen, Andrew H Crosby, Andrew R Webster, Andrew H Crosby, null null
Delineating the expanding phenotype associated with SCAPER gene mutation. American journal of medical genetics. Part A 179 (8) (2019)
Lettie E Rawlins, Hannah Jones, Olivia Wenger, Myat Aye, James Fasham, Gaurav V Harlalka, Barry A Chioza, Alexander Miron, Sian Ellard, Matthew N Wakeling, Andrew H Crosby, Andrew H Crosby
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. European journal of human genetics : EJHG 27 (4) (2019)

Andrew H Crosby.css-eqlu8i{font-size:small;padding-left:4px;} (Andrew Crosby, Emma Baple, Emma L Baple)

Publication Activity (10 Years)

Top Topics

Top Venues

Andrew H Crosby (Andrew Crosby, Emma Baple, Emma L Baple)