Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Laurie A. Demmer"'
Autor:
Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized
Externí odkaz:
https://doaj.org/article/57a3f24470ab45e9a3daea857bcee71b
Autor:
Hutton M. Kearney, Lauren J. Massingham, Danny Miller, Laurie A. Demmer, Fuki M. Hisama, Monica R. McClain, Kandamurugu Manickam, Timothy W. Yu, Sawona Biswas, Jennifer Malinowski
Publikováno v:
Genetics in Medicine. 23:2029-2037
To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or int
Autor:
Stephen J. Guter, Laurie A. Demmer, Jasmine Lf Fung, Gerarda Cappuccio, Naomichi Matsumoto, Nicola Brunetti-Pierri, Catherine Sarret, Hamish S. Scott, Lynn Pais, Alison Yeung, Ken Saida, Christopher P. Barnett, Felix Boschann, Andre Heinen, Noriko Miyake, Jenny C. Taylor, Jonathan Gadian, Cyril Mignot, Boris Keren, Sandra Whalen, Hagar Mor-Shaked, Matteo P. Ferla, John Christodoulou, Raffaele Iorio, Alistair T. Pagnamenta, Tiong Yang Tan, Brian Hy Chung, Marcus Cy Chan, Susan M. White, Ruth Sheffer, Dana Mittag, Edwin H. Cook, Jens Schallner, Alicia B. Byrne, Rachel Stapleton, Natalie B Tan, Alison Kraus, Fabiola Di Dato
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
PurposeBinding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2 was recently rep
Autor:
Molly C Schroeder, Maren T. Scheuner, Elaine Maria Pereira, Jun Shen, David T. Miller, Acmg Professional Practice, Scott E. Hickey, Jennifer Malinowski, Jennifer L Gannon, Laurie A. Demmer, Anne Chun-Hui Tsai
Publikováno v:
Genetics in Medicine
Purpose Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes i
Autor:
Thomas Meitinger, Ortal Barel, Ertan Mayatepek, Dirk Klee, Tim M. Strom, Dagmar Wieczorek, Felix Distelmaier, Fuad Al Mutairi, Yezmin Perilla-Young, Marc Remke, Fowzan S. Alkuraya, Laurie A. Demmer, Cynthia M. Powell, Annette Seibt, Yuliya Skorobogatko, Tharsini Navaratnarajah, Peter Lichtner, Hanan E. Shamseldin, Bader Alhaddad, Matias Wagner, Alan R. Saltiel, Chen Hoffmann, Gali Heimer, Yair Anikster, Ben Pode-Shakked
Publikováno v:
American journal of human genetics, vol 106, iss 2
Am. J. Hum. Genet. 106, 246-255 (2020)
Am J Hum Genet
Am. J. Hum. Genet. 106, 246-255 (2020)
Am J Hum Genet
Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indi
Autor:
Matthew A. Saxonhouse, Graham Cosper, Irina Geiculescu, Ronald Sutsko, Laurie A. Demmer, James E. Jones
Publikováno v:
Journal of Pediatric Genetics.
Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Sibling
Autor:
Kandamurugu, Manickam, Monica R, McClain, Laurie A, Demmer, Sawona, Biswas, Hutton M, Kearney, Jennifer, Malinowski, Lauren J, Massingham, Danny, Miller, Timothy W, Yu, Fuki M, Hisama
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(11)
To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or int
Autor:
Paula Goldenberg, Jeffrey D. Calhoun, Eyby Leon, Sunita N. Misra, Ethan M. Goldberg, Carlos G. Vanoye, Isabelle Thiffault, Kevin A. Strauss, Jennifer A. Kearney, Neil R. Friedman, Ali Torkamani, John Millichap, Jasper J. van der Smagt, Lauren E. Grote, Mark C. Hannibal, Katarina L. Fabre, Dennis M. Echevarria, Robert P. Carson, Dianalee McKnight, Jullianne Diaz, Jessica Litwin, Bryan Lynch, Annapurna Poduri, John B. O’Connor, Eric D. Marsh, Alfred L. George, Carol J. Saunders, Allison Schreiber, Joseph E. Jacher, Laurie A. Demmer, Koen L.I. van Gassen, Seok Kyu Kang
Publikováno v:
Annals of Neurology. 86:899-912
Objective Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel KV 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number of KCNB1 variants indicated a range of
Autor:
Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev
Publikováno v:
American Journal of Medical Genetics Part A. 179:150-158
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short no
Autor:
Nicole Fleischer, Grace M. Anbouba, Vandana Shashi, Thomas Meitinger, Damara Ortiz, Sumedha Ghate, Caleb Bupp, Maria J. Guillen Sacoto, Tiana M. Scott, Juliane Winkelmann, Felix Distelmaier, Sarah R Green, Dirk Klee, Carolyn R Serbinski, Lea Velsher, Michael T. Zimmermann, Meriel McEntagart, Gretchen Parsons, Patrick Yap, Evan H. Baugh, David S. Wargowski, Juan C Del Rey Jimenez, Anne K Olsen, Amy Armstrong-Javors, Victoria Mok Siu, Andrew Green, Nikita R. Dsouza, Elisabeth Graf, Sumit Punj, Matias Wagner, Anna Cereda, Naomi Meeks, Barbro Stadheim, Kirsty McWalter, Ingrid M. Wentzensen, Bert Callewaert, Rhonda E. Schnur, Emily Lancaster, Laurie A. Demmer, G. Bradley Schaefer, Kristin Lindstrom, Maria Iascone, Gonzalo Alonso Ramos-Rivera, Loren D M Pena, Amber Begtrup, Richard E. Person, Harrison Moore, Ameni Kdissa, Eric W. Klee, Dana Mittag, Jana Švantnerová, Ingrid Bader, Theresa Brunet, Johannes A. Mayr, Michael Zech, Jennifer A. Sullivan, Margot A. Cousin, Katharina Mayerhanser, Dagmar Wieczorek, Ralitza H. Gavrilova, Daryl A. Scott
Publikováno v:
GENETICS IN MEDICINE
Genetics in Medicine
Paediatrics Publications
Genet. Med. 23, 384–395 (2021)
Genetics in Medicine
Paediatrics Publications
Genet. Med. 23, 384–395 (2021)
PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa02e378c99c12e2a54e9952d004b3ea
https://biblio.ugent.be/publication/8687772/file/8692632
https://biblio.ugent.be/publication/8687772/file/8692632