Works by Berry-Kravis, Elizabeth

Results: 167

Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.

Published in:

2020

By:

Hall, Deborah A.;
Nag, Sukriti;
Ouyang, Bichun;
Bennett, David A.;
Liu, Yuanqing;
Ali, Aisha;
Zhou, Lili;
Berry‐Kravis, Elizabeth;
Berry-Kravis, Elizabeth

Publication type:

journal article

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Published in:

Pediatric Pulmonology, 2008, v. 43, n. 1, p. 77, doi. 10.1002/ppul.20744

By:

Gronli, Jerome O.;
Santucci, Barbara A.;
Leurgans, Sue E.;
Berry-Kravis, Elizabeth M.;
Weese-Mayer, Debra E.

Publication type:

Article

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.2001

By:

Albizua, Igor;
Charen, Krista;
Shubeck, Lisa;
Talboy, Amy;
Berry‐Kravis, Elizabeth;
Kaufmann, Walter E.;
Stallworth, Jennifer L.;
Drazba, Katy T.;
Erickson, Craig A.;
Sweeney, John A.;
Tartaglia, Nicole;
Warren, Steven F.;
Hagerman, Randi;
Sherman, Stephanie L.;
Warren, Stephen T.;
Jin, Peng;
Allen, Emily G.

Publication type:

Article

Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36087-3

By:

Abbeduto, Leonard;
del Hoyo Soriano, Laura;
Berry-Kravis, Elizabeth;
Sterling, Audra;
Edgin, Jamie O.;
Abdelnur, Nadia;
Drayton, Andrea;
Hoffmann, Anne;
Hamilton, Debra;
Harvey, Danielle J.;
Thurman, Angela John

Publication type:

Article

The challenges of clinical trials in fragile X syndrome.

Published in:

Psychopharmacology, 2014, v. 231, n. 6, p. 1237, doi. 10.1007/s00213-013-3289-0

By:

Jacquemont, Sébastien;
Berry-Kravis, Elizabeth;
Hagerman, Randi;
Raison, Florian;
Gasparini, Fabrizio;
Apostol, George;
Ufer, Mike;
Portes, Vincent;
Gomez-Mancilla, Baltazar

Publication type:

Article

Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 2, p. 725, doi. 10.1007/s10803-022-05821-7

By:

Kaufmann, Walter E.;
Raspa, Melissa;
Bann, Carla M.;
Gable, Julia M.;
Harris, Holly K.;
Budimirovic, Dejan B.;
Lozano, Reymundo;
Berry-Kravis, Elizabeth;
Velinov, Milen;
Talboy, Amy L;
Sherman, Stephanie L;
Kaufmann, Walter E;
Schuster, Marcy;
Tartaglia, Nicole;
Filipink, Robyn A;
Budimirovic, Dejan B;
Barbouth, Deborah;
Lightbody, Amy;
Reiss, Allan;
Delahunty, Carol M

Publication type:

Article

Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 1, p. 301, doi. 10.1007/s10803-022-05779-6

By:

del Hoyo Soriano, Laura;
Sterling, Audra;
Edgin, Jamie;
Hamilton, Debra R.;
Berry-Kravis, Elizabeth;
Dimachkie Nunnally, Amanda;
Thurman, Angela John;
Abbeduto, Leonard

Publication type:

Article

Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 9, p. 3276, doi. 10.1007/s10803-019-04148-0

By:

Kidd, Sharon A.;
Berry-Kravis, Elizabeth;
Choo, Tse Hwei;
Chen, Chen;
Esler, Amy;
Hoffmann, Anne;
Andrews, Howard F.;
Kaufmann, Walter E.

Publication type:

Article

Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 11, p. 4595, doi. 10.1007/s10803-019-04173-z

By:

Eckert, Eleanor M.;
Dominick, Kelli C.;
Pedapati, Ernest V.;
Wink, Logan K.;
Shaffer, Rebecca C.;
Andrews, Howard;
Choo, Tse-Hwei;
Chen, Chen;
Kaufmann, Walter E.;
Tartaglia, Nicole;
Berry-Kravis, Elizabeth M.;
Erickson, Craig A.

Publication type:

Article

Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment.

Published in:

Journal of Autism & Developmental Disorders, 2012, v. 42, n. 7, p. 1377, doi. 10.1007/s10803-011-1370-2

By:

Sansone, Stephanie;
Widaman, Keith;
Hall, Scott;
Reiss, Allan;
Lightbody, Amy;
Kaufmann, Walter;
Berry-Kravis, Elizabeth;
Lachiewicz, Ave;
Brown, Elaine;
Hessl, David

Publication type:

Article

Reliability of Eye Tracking and Pupillometry Measures in Individuals with Fragile X Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2011, v. 41, n. 11, p. 1515, doi. 10.1007/s10803-011-1176-2

By:

Farzin, Faraz;
Scaggs, Felicia;
Hervey, Crystal;
Berry-Kravis, Elizabeth;
Hessl, David

Publication type:

Article

Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2008, v. 38, n. 9, p. 1751, doi. 10.1007/s10803-008-0564-8

By:

Berry-Kravis, Elizabeth;
Sumis, Allison;
Ok-Kyung Kim;
Lara, Rebecca;
Wuu, Joanne

Publication type:

Article

Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population.

Published in:

JAMA: Journal of the American Medical Association, 2004, v. 291, n. 4, p. 460, doi. 10.1001/jama.291.4.460

By:

Jacquemont, Sébastien;
Hagerman, Randi J.;
Leehey, Maureen A.;
Hall, Deborah A.;
Levine, Richard A.;
Brunberg, James A.;
Zhang, Lin;
Jardini, Tristan;
Gane, Louise W.;
Harris, Susan W.;
Herman, Kristin;
Grigsby, James;
Greco, Claudia M.;
Berry-Kravis, Elizabeth;
Tassone, Flora;
Hagerman, Paul J.

Publication type:

Article

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0314-x

By:

Barclay, Sarah F.;
Rand, Casey M.;
Borch, Lauren A.;
Nguyen, Lisa;
Gray, Paul A.;
Gibson, William T.;
Wilson, Richard J. A.;
Gordon, Paul M. K.;
Aung, Zaw;
Berry-Kravis, Elizabeth M.;
Ize-Ludlow, Diego;
Weese-Mayer, Debra E.;
Bech-Hansen, N. Torben

Publication type:

Article

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Published in:

2015

By:

Barclay, Sarah F;
Rand, Casey M;
Borch, Lauren A;
Nguyen, Lisa;
Gray, Paul A;
Gibson, William T;
Wilson, Richard J A;
Gordon, Paul M K;
Aung, Zaw;
Berry-Kravis, Elizabeth M;
Ize-Ludlow, Diego;
Weese-Mayer, Debra E;
Bech-Hansen, N Torben

Publication type:

journal article

The apolipoprotein E ε4 allele and incident Alzheimer’s disease in persons with mild cognitive impairment.

Published in:

Neurocase (Taylor & Francis Ltd), 2005, v. 11, n. 1, p. 3, doi. 10.1080/13554790490903038

By:

Aggarwal, NeelumT.;
Wilson, RobertS.;
beck, ToddL.;
bienias, JuliaL.;
Berry-Kravis, Elizabeth;
bennett, DavidA.

Publication type:

Article

Elevated Cerebrospinal Fluid Total Tau in Niemann‐Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70016

By:

Cawley, Niamh X.;
Zhou, Ruyu;
Farhat, Nicole M.;
Iben, James;
Alexander, Derek M.;
Luke, Rachel A.;
Padilla, Cameron J.;
Mohamed, Hibaaq O.;
Albert, Orsolya K.;
Robbins, Kendall P.;
Rahhal, Samar;
Do, An Dang;
Berry‐Kravis, Elizabeth;
Cologna, Stephanie M.;
Liu, Fang;
Porter, Forbes D.

Publication type:

Article

Variable human phenotype associated with novel deletions of the PHOX2B gene.

Published in:

Pediatric Pulmonology, 2012, v. 47, n. 2, p. 153, doi. 10.1002/ppul.21527

By:

Jennings, Lawrence J.;
Yu, Min;
Rand, Casey M.;
Kravis, Nicole;
Berry-Kravis, Elizabeth M.;
Patwari, Pallavi P.;
Weese-Mayer, Debra E.

Publication type:

Article

Congenital central hypoventilation syndrome: Neurocognitive functioning in school age children.

Published in:

Pediatric Pulmonology, 2010, v. 45, n. 1, p. 92, doi. 10.1002/ppul.21170

By:

Zelko, Frank A.;
Nelson, Michael N.;
Leurgans, Sue E.;
Berry-Kravis, Elizabeth M.;
Weese-Mayer, Debra E.

Publication type:

Article

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine.

Published in:

Pediatric Pulmonology, 2009, v. 44, n. 6, p. 521, doi. 10.1002/ppul.21045

By:

Weese-Mayer, Debra E.;
Rand, Casey M.;
Berry-Kravis, Elizabeth M.;
Jennings, Larry J.;
Loghmanee, Darius A.;
Patwari, Pallavi P.;
Ceccherini, Isabella

Publication type:

Article

Authors' Reply.

Published in:

Pediatric Pulmonology, 2008, v. 43, n. 12, p. 1253, doi. 10.1002/ppul.20815

By:

Gronli, Jerome O.;
Santucci, Barbara A.;
Berry-Kravis, Elizabeth M.;
Leurgans, Sue E.;
Weese-Mayer, Debra E.

Publication type:

Article

Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome.

Published in:

Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 8, p. 1383, doi. 10.1002/aur.2299

By:

Gergoudis, Kellie;
Weinberg, Alan;
Templin, Jonathan;
Farmer, Cristan;
Durkin, Alison;
Weissman, Jordana;
Siper, Paige;
Foss‐Feig, Jennifer;
Pilar Trelles, Maria;
Bernstein, Jonathan A.;
Buxbaum, Joseph D.;
Berry‐Kravis, Elizabeth;
Powell, Craig M.;
Sahin, Mustafa;
Soorya, Latha;
Thurm, Audrey;
Kolevzon, Alexander

Publication type:

Article

A Pilot Study of Social Information Processing Skills in Girls With Fragile X Syndrome.

Published in:

Journal of Mental Health Research in Intellectual Disabilities, 2014, v. 7, n. 2, p. 143, doi. 10.1080/19315864.2013.791358

By:

Russo-Ponsaran, Nicole M.;
Berry-Kravis, Elizabeth;
McKown, Clark A.;
Lipton, Meryl

Publication type:

Article

Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells.

Published in:

Journal of Neuroscience Research, 1998, v. 51, n. 1, p. 41, doi. 10.1002/(SICI)1097-4547(19980101)51:1<41::AID-JNR4>3.0.CO;2-L

By:

Berry-Kravis, Elizabeth;
Ciurlionis, Rita

Publication type:

Article

Tremor and ataxia in fragile X premutation carriers: Blinded videotape study.

Published in:

Annals of Neurology, 2003, v. 53, n. 5, p. 616

By:

Elizabeth Berry-Kravis;
Foster Lewin;
Joanne Wuu;
Maureen Leehey;
Randi Hagerman;
Paul Hagerman;
Christopher G. Goetz

Publication type:

Article

Bruising and the ketogenic diet: Evidence for diet-induced changes in platelet function.

Published in:

Annals of Neurology, 2001, v. 49, n. 1, p. 98, doi. 10.1002/1531-8249(200101)49:1<98::AID-ANA13>3.0.CO;2-2

By:

Berry-Kravis, Elizabeth;
Booth, Gayle;
Taylor, Audrey;
Valentino, Leonard A.

Publication type:

Article

Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

Published in:

Annals of Neurology, 2000, v. 47, n. 2, p. 254, doi. 10.1002/1531-8249(200002)47:2<254::AID-ANA19>3.0.CO;2-7

By:

Berry-Kravis, Elizabeth;
Sleat, David E.;
Sohar, Istvan;
Meyer, Peter;
Donnelly, Robert;
Lobel, Peter

Publication type:

Article

X-linked pachygyria and agenesis of the corpus callosum: Evidence for an X chromosome lissencephaly locus.

Published in:

Annals of Neurology, 1994, v. 36, n. 2, p. 229, doi. 10.1002/ana.410360216

By:

Berry-Kravis, Elizabeth;
Israel, Jeanette

Publication type:

Article

Cyclic AMP metabolism in fragile X syndrome.

Published in:

Annals of Neurology, 1992, v. 31, n. 1, p. 22, doi. 10.1002/ana.410310105

By:

Berry-Kravis, Elizabeth;
Huttenlocher, Peter R.

Publication type:

Article

Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community‐Based Cohort.

Published in:

Movement Disorders, 2021, v. 36, n. 10, p. 2378, doi. 10.1002/mds.28683

By:

Mailick, Marsha R.;
Hong, Jinkuk;
Movaghar, Arezoo;
DaWalt, Leann;
Berry‐Kravis, Elizabeth M.;
Brilliant, Murray H.;
Boero, Jaime;
Todd, Peter K.;
Hall, Deborah

Publication type:

Article

Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.

Published in:

Experimental Brain Research, 2023, v. 241, n. 8, p. 1975, doi. 10.1007/s00221-023-06653-2

By:

Friedman, Laura;
Lauber, Meagan;
Behroozmand, Roozbeh;
Fogerty, Daniel;
Kunecki, Dariusz;
Berry-Kravis, Elizabeth;
Klusek, Jessica

Publication type:

Article

Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype.

Published in:

Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07120-6

By:

Fink, James J.;
Delaney-Busch, Nathaniel;
Dawes, Ryan;
Nanou, Evanthia;
Folts, Christopher;
Harikrishnan, Karthiayani;
Hempel, Chris;
Upadhyay, Hansini;
Nguyen, Trinh;
Shroff, Himali;
Stoppel, David;
Ryan, Steven J.;
Jacques, Jane;
Grooms, Jennifer;
Berry-Kravis, Elizabeth;
Bear, Mark F.;
Williams, Luis A.;
Gerber, David;
Bunnage, Mark;
Furey, Brinley

Publication type:

Article

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome.

Published in:

SAGE Open Medicine, 2024, p. 1, doi. 10.1177/20503121241282401

By:

Protic, Dragana;
Breeze, Elizabeth;
Mendoza, Guadalupe;
Zafarullah, Marwa;
Abbeduto, Leonard;
Hagerman, Randi;
Coffey, Christopher;
Cudkowicz, Merit;
Durbin-Johnson, Blythe;
Ashwood, Paul;
Berry-Kravis, Elizabeth;
Erickson, Craig A.;
Filipink, Robin;
Gropman, Andrea;
Lehwald, Lenora;
Maxwell-Horn, Angela;
Morris, Stephanie;
Bennett, Amanda Palladino;
Prock, Lisa;
Talboy, Amy

Publication type:

Article

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond.

Published in:

Neuropsychopharmacology, 2012, v. 37, n. 1, p. 178, doi. 10.1038/npp.2011.137

By:

Gross, Christina;
Berry-Kravis, Elizabeth M;
Bassell, Gary J

Publication type:

Article

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation–confirmed congenital central hypoventilation syndrome.

Published in:

Clinical Autonomic Research, 2007, v. 17, n. 3, p. 177, doi. 10.1007/s10286-007-0421-4

By:

Diedrich, André;
Malow, Beth A.;
Antic, Nick A.;
Sato, Kyoko;
McEvoy, R. Daug;
Mathias, Christopher J.;
Robertson, David;
Berry-Kravis, Elizabeth M.;
Weese-Mayer, Debra E.

Publication type:

Article

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.

Published in:

Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00365

By:

Fraint, Avram;
Vittal, Padmaja;
Szewka, Aimee;
Bernard, Bryan;
Berry-Kravis, Elizabeth;
Hall, Deborah A.

Publication type:

Article

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 4, p. 625, doi. 10.1093/hmg/ddab280

By:

Levy, Tess;
Foss-Feig, Jennifer H;
Betancur, Catalina;
Siper, Paige M;
Trelles-Thorne, Maria del Pilar;
Halpern, Danielle;
Frank, Yitzchak;
Lozano, Reymundo;
Layton, Christina;
Britvan, Bari;
Bernstein, Jonathan A;
Buxbaum, Joseph D;
Berry-Kravis, Elizabeth;
Powell, Craig M;
Srivastava, Siddharth;
Sahin, Mustafa;
Soorya, Latha;
Thurm, Audrey;
Kolevzon, Alexander;
Consortium, the Developmental Synaptopathies

Publication type:

Article

A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54077-5

By:

Kim-McManus, Olivia;
Gleeson, Joseph G.;
Mignon, Laurence;
Smith Fine, Amena;
Yan, Winston;
Nolen, Nicole;
Demarest, Scott;
Berry-Kravis, Elizabeth;
Finkel, Richard;
Leonard, Stefanie;
Finlayson, Samuel;
Augustine, Erika;
Lyon, Gholson J.;
Schule, Rebecca;
Yu, Timothy

Publication type:

Article

Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome.

Published in:

Molecular Autism, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13229-024-00626-0

By:

Norris, Jordan E.;
Berry-Kravis, Elizabeth M.;
Harnett, Mark D.;
Reines, Scott A.;
Reese, Melody A.;
Outterson, Abigail H.;
Michalak, Claire;
Furman, Jeremiah;
Gurney, Mark E.;
Ethridge, Lauren E.

Publication type:

Article

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.

Published in:

Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-020-00411-9

By:

Mariscal, Michael. G.;
Berry-Kravis, Elizabeth;
Buxbaum, Joseph D.;
Ethridge, Lauren E.;
Filip-Dhima, Rajna;
Foss-Feig, Jennifer H.;
Kolevzon, Alexander;
Modi, Meera. E.;
Mosconi, Matthew W.;
Nelson, Charles A.;
Powell, Craig M.;
Siper, Paige M.;
Soorya, Latha;
Thaliath, Andrew;
Thurm, Audrey;
Zhang, Bo;
Sahin, Mustafa;
Levin, April R.

Publication type:

Article

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Published in:

Molecular Autism, 2019, v. 10, n. 1, p. 1, doi. 10.1186/s13229-019-0291-3

By:

Kolevzon, Alexander;
Delaby, Elsa;
Berry-Kravis, Elizabeth;
Buxbaum, Joseph D.;
Betancur, Catalina

Publication type:

Article

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056.

Published in:

Science Translational Medicine, 2011, v. 3, n. 64, p. 1, doi. 10.1126/scitranslmed.3001708

By:

Jacquemont, Sébastien;
Curie, Aurore;
des Portes, Vincent;
Torrioli, Maria Giulia;
Berry-Kravis, Elizabeth;
Hagerman, Randi J.;
Ramos, Feliciano J.;
Cornish, Kim;
Yunsheng He;
Paulding, Charles;
Neri, Giovanni;
Fei Chen;
Hadjikhani, Nouchine;
Martinet, Danielle;
Meyer, Joanne;
Beckmann, Jacques S.;
Delange, Karine;
Brun, Amandine;
Bussy, Gerald;
Gasparini, Fabrizio

Publication type:

Article

Congenital Central Hypoventilation Syndrome.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 10, p. 1139, doi. 10.1164/rccm.200602-305OC

By:

Berry-Kravis, Elizabeth M.;
Lili Zhou;
Rand, Casey M.;
Weese-Mayer, Debra E.

Publication type:

Article

PHOX2B Mutation-confirmed Congenital Central Hypoventilation Syndrome.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 8, p. 923, doi. 10.1164/rccm.200605-607CR

By:

Antic, Nick A.;
Malow, Beth A.;
Lange, Neale;
Doug McEvoy, R.;
Olson, Amy L.;
Turkington, Peter;
Windisch, Wolfram;
Samuels, Martin;
Stevens, Cathy A.;
Berry-Kravis, Elizabeth M.;
Weese-Mayer, Debra E.

Publication type:

Article

Adult Identified with Congenital Central Hypoventilation Syndrome-Mutation in PHOX2b Gene and Late-Onset CHS.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2005, v. 171, n. 1, p. 88, doi. 10.1164/ajrccm.171.1.950

By:

WEESE-MAYER, DEBRA E.;
BERRY-KRAVIS, ELIZABETH M.;
LILI ZHOU

Publication type:

Article

Genetics of Congenital Central Hypoventilation Syndrome.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2004, v. 170, n. 1, p. 16, doi. 10.1164/rccm.200402-245PP

By:

Weese-Mayer, Debra E.;
Berry-Kravis, Elizabeth M.

Publication type:

Article

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241273464

By:

Savage, Margaret C.;
Bliss, Geraldine;
Buxbaum, Joseph D.;
Farrell, Jordan S.;
Levin, April R.;
Srivastava, Siddharth;
Berry-Kravis, Elizabeth;
Holder Jr, J. Lloyd;
Sahin, Mustafa

Publication type:

Article

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.

Published in:

Biomarker Research, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40364-023-00448-x

By:

Campbell, Kiersten;
Cawley, Niamh X.;
Luke, Rachel;
Scott, Katelin E. J.;
Johnson, Nicholas;
Farhat, Nicole Y.;
Alexander, Derek;
Wassif, Christopher A.;
Li, Wenping;
Cologna, Stephanie M.;
Berry-Kravis, Elizabeth;
Do, An Dang;
Dale, Ryan K.;
Porter, Forbes D.

Publication type:

Article

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults.

Published in:

Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.727085

By:

Hong, Jinkuk;
DaWalt, Leann;
Baker, Mei Wang;
Berry-Kravis, Elizabeth M.;
Mailick, Marsha R.

Publication type:

Article

The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.

Published in:

Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.718485

By:

Maltman, Nell;
Guilfoyle, Janna;
Nayar, Kritika;
Martin, Gary E.;
Winston, Molly;
Lau, Joseph C. Y.;
Bush, Lauren;
Patel, Shivani;
Lee, Michelle;
Sideris, John;
Hall, Deborah A.;
Zhou, Lili;
Sharp, Kevin;
Berry-Kravis, Elizabeth;
Losh, Molly

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Article