Laurie H Seaver

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 7

Top Topics

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

medRxiv : the preprint server for health sciences

Child neurology open

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

Publications

Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn S Pais, Anne H O'Donnell-Luria, Grace E VanNoy, Allan Bayat, Rikke Steensjerre Moller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H Seaver, Jennifer A Sullivan, Vandana Shashi, Fowzan Sami Alkuraya, Alexis F Poss, J Edward Spence, Rhonda E Schnur, Ian C Forster, Chaseley E McKenzie, Cas Simons, Min Wang, Penny Snell, Russell C Dale, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Henrion Daniel, Guy Lenaers, Estelle Colin, Nienke E Verbeek, Koen L Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A Reid, Katherine B Howell, Alban Ziegler, Christian Legros
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Julie Ngo, Jeremy W Prokop, Jason Umfleet, Laurie H Seaver
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). Child neurology open 8 (2021)
Jacob G Charron, Angel Hernandez, Stephanie M Bilinovich, Daniel L Vogt, Laura A Bedinger, Laurie H Seaver, Michael Williams, Seth Devries, Daniel B Campbell, Caleb P Bupp, Jeremy W Prokop
N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants. American journal of medical genetics. Part A (2021)
Lauren B Carter, Agatino Battaglia, Athena Cherry, Melanie A Manning, Maura Rz Ruzhnikov, Lynne M Bird, Leah Ke'ala'aumoe Dowsett, John M Graham, Fowzan Sami Alkuraya, Mais Hashem, Mary Beth Dinulos, Stephanie Vallee, Margaret P Adam, Ian Glass, Anita E Beck, Cathy A Stevens, Elaine Zackai, Carey McDougall, Beth Keena, Angela Peron, Aglaia Vignoli, Laurie H Seaver, Thomas P Slavin, Louanne Hudgins
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. American journal of medical genetics. Part A 179 (8) (2019)
Nisha Korakavi, Jeremy W Prokop, Laurie H Seaver
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome. American journal of medical genetics. Part A 179 (4) (2019)