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Natural history of posterior fetal cephaloceles and incidence of progressive cephalocele herniation.
Published in:
Journal of Neurosurgery: Pediatrics, 2022, v. 30, n. 3, p. 342, doi. 10.3171/2022.6.PEDS22102
By:
- Gadgil, Nisha;
- McClugage III, Samuel G.;
- Aldave, Guillermo;
- Bauer, David F.;
- Weiner, Howard L.;
- Huisman, Thierry A. G. M.;
- Sanz-Cortes, Magdalena;
- Belfort, Michael A.;
- Emrick, Lisa;
- Clark, Gary;
- Joyeux, Luc;
- Whitehead, William E.
Publication type:
Article
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1837, doi. 10.1093/brain/awad403
By:
- Rinaldi, Berardo;
- Bayat, Allan;
- Zachariassen, Linda G;
- Sun, Jia-Hui;
- Ge, Yu-Han;
- Zhao, Dan;
- Bonde, Kristine;
- Madsen, Laura H;
- Awad, Ilham Abdimunim Ali;
- Bagiran, Duygu;
- Sbeih, Amal;
- Shah, Syeda Maidah;
- El-Sayed, Shaymaa;
- Lyngby, Signe M;
- Pedersen, Miriam G;
- Stenum-Berg, Charlotte;
- Walker, Louise Claudia;
- Krey, Ilona;
- Delahaye-Duriez, Andrée;
- Emrick, Lisa T
Publication type:
Article
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Published in:
Human Genetics, 2024, v. 143, n. 3, p. 279, doi. 10.1007/s00439-024-02657-2
By:
- Brooks, Daniel;
- Burke, Elizabeth;
- Lee, Sukyeong;
- Eble, Tanya N.;
- O'Leary, Melanie;
- Osei-Owusu, Ikeoluwa;
- Rehm, Heidi L.;
- Dhar, Shweta U.;
- Emrick, Lisa;
- Bick, David;
- Nehrebecky, Michelle;
- Macnamara, Ellen;
- Casas-Alba, Dídac;
- Armstrong, Judith;
- Prat, Carolina;
- Martínez-Monseny, Antonio F.;
- Palau, Francesc;
- Liu, Pengfei;
- Adams, David;
- Lalani, Seema
Publication type:
Article
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Published in:
Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
By:
- Royer-Bertrand, Beryl;
- Jequier Gygax, Marine;
- Cisarova, Katarina;
- Rosenfeld, Jill A.;
- Bassetti, Jennifer A.;
- Moldovan, Oana;
- O'Heir, Emily;
- Burrage, Lindsay C.;
- Allen, Jake;
- Emrick, Lisa T.;
- Eastman, Emma;
- Kumps, Camille;
- Abbas, Safdar;
- Van Winckel, Geraldine;
- Chabane, Nadia;
- Zackai, Elaine H.;
- Lebon, Sebastien;
- Keena, Beth;
- Bhoj, Elizabeth J.;
- Umair, Muhammad
Publication type:
Article
Heteroplasmic pathogenic m.12315G>A variant in MT‐TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63461
By:
- Snyder, Matthew T.;
- Manor, Joshua;
- Gijavanekar, Charul;
- Mizerik, Elizabeth;
- Kralik, Stephen F.;
- Elsea, Sarah H.;
- Machol, Keren;
- Emrick, Lisa;
- Scaglia, Fernando
Publication type:
Article
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399
By:
- Ward, Scott K.;
- Wadley, Alexandrea;
- Tsai, Chun‐hui;
- Benke, Paul J.;
- Emrick, Lisa;
- Fisher, Kristen;
- Houck, Kimberly M.;
- Dai, Hongzheng;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
By:
- Merriweather, Ashanta;
- Murdock, David R.;
- Rosenfeld, Jill A.;
- Dai, Hongzheng;
- Ketkar, Shamika;
- Emrick, Lisa;
- Nicholas, Sarah;
- Lewis, Richard A.;
- Bacino, Carlos A.;
- Scott, Daryl A.;
- Lee, Brendan;
- Sutton, Vernon Reid;
- Potocki, Lorraine;
- Burrage, Lindsay C.
Publication type:
Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
By:
- Keehan, Laura;
- Jiang, Ming‐Ming;
- Li, Xiaohui;
- Marom, Ronit;
- Dai, Hongzheng;
- Murdock, David;
- Liu, Pengfei;
- Hunter, Jill V.;
- Heaney, Jason D.;
- Robak, Laurie;
- Emrick, Lisa;
- Lotze, Timothy;
- Blieden, Lauren S.;
- Lewis, Richard Alan;
- Levin, Alex V.;
- Capasso, Jenina;
- Craigen, William J.;
- Rosenfeld, Jill A.;
- Lee, Brendan;
- Burrage, Lindsay C.
Publication type:
Article
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 475, doi. 10.1002/ajmg.a.61007
By:
- Handoko, Maureen;
- Emrick, Lisa T.;
- Rosenfeld, Jill A.;
- Wang, Xia;
- Tran, Alyssa A.;
- Turner, Alicia;
- Belmont, John W.;
- Lee, Brendan H.;
- Bacino, Carlos A.;
- Chao, Hsiao‐Tuan
Publication type:
Article
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 914, doi. 10.1002/ajmg.a.36948
By:
- Sarkar, Arindam;
- Emrick, Lisa T.;
- Smith, Eboni M.;
- Austin, Elise G.;
- Yang, Yaping;
- Hunter, Jill V.;
- Scaglia, Fernando;
- Lalani, Seema R.
Publication type:
Article
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2633, doi. 10.1002/ajmg.a.36672
By:
- Emrick, Lisa T.;
- Murphy, Lauren;
- Shamshirsaz, Alireza A.;
- Ruano, Rodrigo;
- Cassady, Christopher I.;
- Liu, Liu;
- Chang, Fengqi;
- Sutton, V. Reid;
- Li, Marilyn;
- Van den Veyver, Ignatia B.
Publication type:
Article
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Published in:
PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006905
By:
- Luo, Xi;
- Rosenfeld, Jill A.;
- Yamamoto, Shinya;
- Harel, Tamar;
- Zuo, Zhongyuan;
- Hall, Melissa;
- Wierenga, Klaas;
- Pastore, Matthew T.;
- Bartholomew, Dennis;
- Delgado, Mauricio R.;
- Rotenberg, Joshua;
- Lewis, Richard Alan;
- Emrick, Lisa;
- Bacino, Carlos A.;
- Eldomery, Mohammad K.;
- Coban Akdemir, Zeynep;
- Xia, Fan;
- Yang, Yaping;
- Lalani, Seema R.;
- Lotze, Timothy
Publication type:
Article
Foscarnet and ganciclovir pharmacokinetics during concomitant or alternating maintenance therapy for AIDS-related cytomegalovirus retinitis<sup>*</sup>.
Published in:
Clinical Pharmacology & Therapeutics, 1995, v. 57, n. 4, p. 403, doi. 10.1016/0009-9236(95)90209-0
By:
- Aweeka, Francesca T.;
- Gambertoglio, John G.;
- Kramer, Françoise;
- van der Horst, Charles;
- Polsky, Bruce;
- Jayewardene, Anura;
- Lizak, Patricia;
- Emrick, Lisa;
- Tong, William;
- Jacobson, Mark A.
Publication type:
Article
Recommendations for the Management of Strokelike Episodes in PatientsWith Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Published in:
JAMA Neurology, 2016, v. 73, n. 5, p. 591, doi. 10.1001/jamaneurol.2015.5072
By:
- Koenig, Mary Kay;
- Emrick, Lisa;
- Karaa, Amel;
- Korson, Mark;
- Scaglia, Fernando;
- Parikh, Sumit;
- Goldstein, Amy
Publication type:
Article
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 83, doi. 10.1002/acn3.50960
By:
- Mendes, Marisa I.;
- Green, Lydia M. C.;
- Bertini, Enrico;
- Tonduti, Davide;
- Aiello, Chiara;
- Smith, Desiree;
- Salsano, Ettore;
- Beerepoot, Shanice;
- Hertecant, Jozef;
- Spiczak, Sarah;
- Livingston, John H.;
- Emrick, Lisa;
- Fraser, Jamie;
- Russell, Laura;
- Bernard, Genevieve;
- Magri, Stefania;
- Di Bella, Daniela;
- Taroni, Franco;
- Koenig, Mary K.;
- Moroni, Isabella
Publication type:
Article
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979
By:
- Panneerselvam, Sugi;
- Wang, Julia;
- Zhu, Wenmiao;
- Dai, Hongzheng;
- Pappas, John G.;
- Rabin, Rachel;
- Low, Karen J.;
- Rosenfeld, Jill A.;
- Emrick, Lisa;
- Xiao, Rui;
- Xia, Fan;
- Yang, Yaping;
- Eng, Christine M.;
- Anderson, Anne;
- Chau, Vann;
- Soler‐Alfonso, Claudia;
- Streff, Haley;
- Lalani, Seema R.;
- Mercimek‐Andrews, Saadet;
- Bi, Weimin
Publication type:
Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Published in:
Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
By:
- Calame, Daniel G.;
- Herman, Isabella;
- Maroofian, Reza;
- Marshall, Aren E.;
- Donis, Karina Carvalho;
- Fatih, Jawid M.;
- Mitani, Tadahiro;
- Du, Haowei;
- Grochowski, Christopher M.;
- Sousa, Sergio B.;
- Gijavanekar, Charul;
- Bakhtiari, Somayeh;
- Ito, Yoko A.;
- Rocca, Clarissa;
- Hunter, Jill V.;
- Sutton, V. Reid;
- Emrick, Lisa T.;
- Boycott, Kym M.;
- Lossos, Alexander;
- Fellig, Yakov
Publication type:
Article
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Published in:
2020
By:
- Vanderver, Adeline;
- Bernard, Geneviève;
- Helman, Guy;
- Sherbini, Omar;
- Boeck, Ryan;
- Cohn, Jeffrey;
- Collins, Abigail;
- Demarest, Scott;
- Dobbins, Katherine;
- Emrick, Lisa;
- Fraser, Jamie L.;
- Masser‐Frye, Diane;
- Hayward, Jean;
- Karmarkar, Swati;
- Keller, Stephanie;
- Mirrop, Samuel;
- Mitchell, Wendy;
- Pathak, Sheel;
- Sherr, Elliott;
- Haren, Keith
Publication type:
journal article
Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1402, doi. 10.1111/dmcn.14980
By:
- Wilson, Jenny L;
- Gregory, Allison;
- Kurian, Manju A;
- Bushlin, Ittai;
- Mochel, Fanny;
- Emrick, Lisa;
- Adang, Laura;
- Hogarth, Penelope;
- Hayflick, Susan J;
- Rogers, Caleb;
- Lee, Jae‐Hyeok;
- Burke, Kimberly;
- Dyer, Meg Tally;
- Stretter, Donna
Publication type:
Article
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Published in:
2018
By:
- Karaa, Amel;
- Rahman, Shamima;
- Lombès, Anne;
- Yu-Wai-Man, Patrick;
- Sheikh, Muniza K.;
- Alai-Hansen, Sherita;
- Cohen, Bruce H.;
- Dimmock, David;
- Emrick, Lisa;
- Falk, Marni J.;
- McCormack, Shana;
- Mirsky, David;
- Moore, Tony;
- Parikh, Sumit;
- Shoffner, John;
- Taivassalo, Tanja;
- Tarnopolsky, Mark;
- Tein, Ingrid;
- Odenkirchen, Joanne C.;
- Goldstein, Amy
Publication type:
Erratum
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 403, doi. 10.1007/s10545-017-0035-5
By:
- Karaa, Amel;
- Rahman, Shamima;
- Lombès, Anne;
- Yu-Wai-Man, Patrick;
- Sheikh, Muniza;
- Alai-Hansen, Sherita;
- Cohen, Bruce;
- Dimmock, David;
- Emrick, Lisa;
- Falk, Marni;
- McCormack, Shana;
- Mirsky, David;
- Moore, Tony;
- Parikh, Sumit;
- Shoffner, John;
- Taivassalo, Tanja;
- Tarnopolsky, Mark;
- Tein, Ingrid;
- Odenkirchen, Joanne;
- Goldstein, Amy
Publication type:
Article
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Published in:
2020
By:
- Kennedy, Adam D.;
- Pappan, Kirk L.;
- Donti, Taraka;
- Delgado, Mauricio R.;
- Shinawi, Marwan;
- Pearson, Toni S.;
- Lalani, Seema R.;
- Craigen, William J.;
- Sutton, V. Reid;
- Evans, Anne M.;
- Sun, Qin;
- Emrick, Lisa T.;
- Elsea, Sarah H.
Publication type:
Correction Notice
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Published in:
Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00394
By:
- Kennedy, Adam D.;
- Pappan, Kirk L.;
- Donti, Taraka;
- Delgado, Mauricio R.;
- Shinawi, Marwan;
- Pearson, Toni S.;
- Lalani, Seema R.;
- Craigen, William E.;
- Sutton, V. Reid;
- Evans, Anne M.;
- Sun, Qin;
- Emrick, Lisa T.;
- Elsea, Sarah H.
Publication type:
Article
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
Published in:
BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03571-w
By:
- Walimbe, Ameya S.;
- Machol, Keren;
- Kralik, Stephen F.;
- Mizerik, Elizabeth A.;
- Yoel Gofn;
- Bekheirnia, Mir Reza;
- Gijavanekar, Charul;
- Elsea, Sarah H.;
- Emrick, Lisa T.;
- Scaglia, Fernando
Publication type:
Article
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Published in:
Human Mutation, 2022, v. 43, n. 2, p. 266, doi. 10.1002/humu.24308
By:
- Kumble, Smitha;
- Levy, Amanda M.;
- Punetha, Jaya;
- Gao, Hua;
- Ah Mew, Nicholas;
- Anyane‐Yeboa, Kwame;
- Benke, Paul J.;
- Berger, Sara M.;
- Bjerglund, Lise;
- Campos‐Xavier, Belinda;
- Ciliberto, Michael;
- Cohen, Julie S.;
- Comi, Anne M.;
- Curry, Cynthia;
- Damaj, Lena;
- Denommé‐Pichon, Anne‐Sophie;
- Emrick, Lisa;
- Faivre, Laurence;
- Fasano, Mary Beth;
- Fiévet, Alice
Publication type:
Article
Identification of novel candidate disease genes from de novo exonic copy number variants.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0472-7
By:
- Gambin, Tomasz;
- Bo Yuan;
- Weimin Bi;
- Pengfei Liu;
- Rosenfeld, Jill A.;
- Coban-Akdemir, Zeynep;
- Pursley, Amber N.;
- Nagamani, Sandesh C. S.;
- Marom, Ronit;
- Golla, Sailaja;
- Dengle, Lauren;
- Petrie, Heather G.;
- Matalon, Reuben;
- Emrick, Lisa;
- Proud, Monica B.;
- Treadwell-Deering, Diane;
- Hsiao-Tuan Chao;
- Koillinen, Hannele;
- Brown, Chester;
- Urraca, Nora
Publication type:
Article
Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study.
Published in:
American Journal of Hospice & Palliative Medicine, 2019, v. 36, n. 11, p. 959, doi. 10.1177/1049909119844519
By:
- Lyons-Warren, Ariel Maia;
- Stowe, Robert C.;
- Emrick, Lisa;
- Jarrell, Jill Ann
Publication type:
Article

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