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LISA EMRICK

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address6701 FANNIN
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    TitleAssistant Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Neurology
    DivisionNeurology


    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogn? B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 Oct 24; 391(16):1511-1518. PMID: 39442041.
      Citations:    Fields:    Translation:Humans
    2. Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA. Systemic complications of Aicardi Gouti?res syndrome using real-world data. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108578. PMID: 39332260.
      Citations:    Fields:    Translation:Humans
    3. Waskow ER, Undiagnosed Diseases Network, Emrick LT, Rosenfeld JA, Ketkar S, Burrage LC, Scott DA. Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. Am J Med Genet A. 2024 Aug 21; e63845. PMID: 39166428.
      Citations:    Fields:    
    4. Dadoun S, Ketwaroo P, Bacino CA, Emrick L, Sanz Cortes M. Fetal seizures observed on ultrasound can guide diagnosis and treatment of neonatal epileptic encephalopathy. Ultrasound Obstet Gynecol. 2024 Jul 23. PMID: 39042862.
      Citations:    Fields:    
    5. Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, W?nsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53. PMID: 39181022.
      Citations:    Fields:    Translation:Humans
    6. Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen C?, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Kr?geloh-Mann I, Shults J, Vanderver A, Escolar ML. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Mol Genet Metab. 2024 Aug; 142(4):108521. PMID: 38964050; PMCID: PMC11348664.
      Citations: 1     Fields:    Translation:Humans
    7. Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kort?m F, Herget T, Bierhals T, Condell A, Zeev BB, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, M?ller RS, T?mer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS, Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Lynch SA, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kort?m F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, M?ller RS, T?mer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain. 2024 May 03; 147(5):1837-1855. PMID: 38038360; PMCID: PMC11068105.
      Citations:    Fields:    
    8. Immanneni C, Calame D, Jiao S, Emrick LT, Holmgren M, Yano ST. ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever. Neurol Genet. 2024 Jun; 10(3):e200150. PMID: 38685976; PMCID: PMC11057438.
      Citations:    
    9. Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z, Undiagnosed Diseases Network, Eng CM, Lee B, Liu P. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 05 02; 111(5):841-862. PMID: 38593811; PMCID: PMC11080285.
      Citations: 1     Fields:    Translation:HumansCells
    10. Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Sch?ls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Jul; 26(7):739-748. PMID: 38613540; PMCID: PMC11348704.
      Citations: 2     Fields:    Translation:HumansPHPublic Health
    11. Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach. Mol Genet Metab. 2024 May; 142(1):108453. PMID: 38522179; PMCID: PMC11131438.
      Citations: 1     Fields:    Translation:Humans
    12. Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Mart?nez-Monseny AF, Palau F, Liu P, Adams D, Undiagnosed Diseases Network, Lalani S, Rosenfeld JA, Burrage LC. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Hum Genet. 2024 Mar; 143(3):279-291. PMID: 38451290; PMCID: PMC11191325.
      Citations:    Fields:    Translation:Humans
    13. Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia F. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87. PMID: 38438854; PMCID: PMC10910770.
      Citations:    Fields:    Translation:Humans
    14. Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Undiagnosed Diseases Network, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogn? B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA. medRxiv. 2024 Feb 07. PMID: 38496558; PMCID: PMC10942497.
      Citations:    
    15. Calame DG, Emrick LT. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders. Neurotherapeutics. 2024 Jan; 21(1):e00316. PMID: 38244259; PMCID: PMC10903096.
      Citations: 1     Fields:    Translation:HumansCells
    16. Abdi K, Adams E, Agarwal S, Aliyu MH, Altamimi T, Andescavage N, Aral A, Arfi H, Armour E, Armstrong L, Mulkey SB, Bambi J, Basu S, Beaulieu LBO, Belfort M, Bell K, Benner E, Bernard C, Bhattacharya S, Biselele T, Bitar L, Blaz W, Bolay H, Bray M, Bruckert L, Busnelli A, Mayorga PC, Carrasco M, Carter E, Cassidy M, Chalak L, Chao A, Chauhan P, Cherkerzian S, Chernova L, Chowdhury R, Christou H, Ciralli F, Coletti M, Comanducci A, Comstock B, Cooke A, Cornet MC, Corsi-Cabrera M, Coscia A, C?te-Corriveau G, Cubero-Rego AC, Cubero-Rego MLA, Cuddyer D, Cuzzilla R, Cuzzilla R, Dehaes M, Doyle E, Drobyshevsky A, Dubner S, Duerden EG, Dunne A, DuPlessis A, Eisch AJ, El-Dib M, Elmazoglu Z, Emrick L, Epstein A, Erdei C, Ergun MA, Fedeles B, Feldman H, Findley T, Flynn P, Gadra E, Gagnon MM, Gagnon M, Ganesh P, Gano D, Garbarini F, Geary M, Ghezzi E, Gibson K, Glass H, Gloire GM, Gonzalez F, Gorman A, Goswami I, Gregory S, Gulnerman EK, Harmony T, Harrington L, Harshbarger J, Hartley C, Hayakawa M, Hayes B, Heagerty P, Hicks M, Inder T, Iragavarapu M, Ito Y, Jain V, Johnson KJD, Joseph D, Jurkiewicz M, Juul S, Kamyshanskiy Y, Kapoor B, Kapse K, Kazan HH, Kebaya L, Kidokoro H, Klein R, Kling E, Kopobayeva I, Korf J, Kumai S, Lazarus M, Lebane D, Lee I, Lemmon M, Leon R, Limperopoulos C, Liu E, Liu YL, Ognean ML, Luu TM, Machie M, Marchant S, Marchman V, Marsh E, Martinez-Biarge M, Matacuta I, Matei C, Maxfield C, Mayock D, McCullough L, Meyerink P, Miller K, Millman R, Minga S, Mitsumatsu T, Monsell S, Moulton TS, Murnick J, Nakata T, Narita H, Natsume J, Nichols ES, Nicolayevsky SE, Nuyt AM, O'Brien J, Ostrander B, Pacheco J, Pagano L, Pardo A, Peila C, Peyton C, Peyton C, Pineda R, Poblaciones R, Poles K, Quigley M, Reddy S, Remis S, Reynolds A, Ribaupierre S, Ricardo-Garcell J, Rikard B, Rodriguez B, Ronga I, Rosenberg P, Ross M, Roychaudhuri S, Russo S, Sadowska-Krawczenko I, Salihu HM, Sato Y, Saulino P, Sawamura F, Scala M, Scher M, Schindewolf E, Sebastiano AR, Shanahan J, Sharon D, Sheldon Y, Shiraki A, Simard MN, Singh E, Sirgiovanni I, Smego A, Steele T, Stein N, Suttin R, Suzui R, Swider M, Tady BP, Taga G, Tang S, Tarrant A, Tarui T, Topa EGA, Trapp N, Tristao L, Tuka D, Turdybekova Y, Ushida T, Usman F, Venkatesan C, Visa G, Wang J, Watanabe H, Watson T, Witulska-Alag?z A, Wood S, Wu Y, Yamamoto H, Yarnykh V, Young M, Yun NY, Zapolnik P, Zarrinnegar D. Proceedings of the 15th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal. J Neonatal Perinatal Med. 2024; 17(3):S285-S316. PMID: 39121138.
      Citations:    Fields:    Translation:Humans
    17. Zamani M, Vona B, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Akhondian J, Babaei M, Hashemi N, Setzke J, Galehdari H, Maroofian R, Kaiyrzhanov R, Liebmann L, Karimiani EG, Huebner AK, Calame DG, Misra VK, Toosi MB, Schnur RE, Suri M, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Severino M, Houlden H, H?bner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034. PMID: 38054405; PMCID: PMC11157690.
      Citations: 1     Fields:    Translation:HumansAnimals
    18. Snyder MT, Manor J, Gijavanekar C, Mizerik E, Kralik SF, Elsea SH, Machol K, Emrick L, Scaglia F. Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 03; 194(3):e63461. PMID: 37953071.
      Citations:    Fields:    Translation:Humans
    19. Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Undiagnosed Diseases Network, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30. PMID: 37743782; PMCID: PMC11221546.
      Citations:    Fields:    Translation:Humans
    20. Tarui T, Venkatesan C, Gano D, Lemmon ME, Mulkey SB, Pardo AC, Emrick L, Scher M, Agarwal S. Fetal Neurology Practice Survey: Current Practice and the Future Directions. Pediatr Neurol. 2023 Aug; 145:74-79. PMID: 37290231.
      Citations:    Fields:    Translation:Humans
    21. Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y, Undiagnosed Diseases Network, Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 04 06; 110(4):663-680. PMID: 36965478; PMCID: PMC10119142.
      Citations:    Fields:    Translation:HumansCells
    22. Abdi K, Adams E, Agarwal S, Ergun MA, Altamimi T, Aral A, Arfi H, Armour E, Armstrong L, Mulkey SB, Bambi J, Baxter L, Benner E, Bhattacharya S, Biselele T, Bolay H, Mayorga PC, Carrasco M, Carter E, Chao A, Cooke A, Corsi-Cabrera M, Cubero-Rego L, Cuddyer D, Gano DD, Cubero-Rego MLA, de Ribaupierre S, Drobyshevsky A, El-Dib M, Elmazoglu Z, Emrick L, Epstein A, Erdei C, Flynn P, Duerden EG, Gibson K, Gregory S, Topa EGA, Aliyu MH, Harmony T, Harshbarger J, Hartley C, Hayakawa M, Kazan HH, Inder T, Ito Y, Jain V, Jurkiewicz M, Kapoor B, Kebaya L, Keles Gulnerman E, Kidokoro H, Kling E, Kumai S, Lebane D, Lemmon M, Salihu HM, Marchant S, Maxfield C, Mbayabo G, Meyerink P, Millman R, Mitsumatsu T, Nakata T, Narita H, Natsume J, Pacheco J, Pagano L, Pardo A, Peyton C, Pineda R, Reddy S, Ricardo-Garcell J, Rikard B, Roychaudhuri S, Nichols ES, Sadowska-Krawczenko I, Sato Y, Sawamura F, Scher M, Sharon D, Sheldon Y, Shiraki A, Singh E, Steele T, Suzui R, Tady BP, Taga G, Tarui T, Trapp N, Tristao L, Tuka D, Ushida T, Usman F, Venkatesan C, Watanabe H, Witulska-Alag?z A, Yamamoto H, Yarnykh V, Younge N. Proceedings of the 14th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal. J Neonatal Perinatal Med. 2023; 16(s1):S1-S19. PMID: 37599540.
      Citations:    Fields:    
    23. Gadgil N, McClugage SG, Aldave G, Bauer DF, Weiner HL, Huisman TAGM, Sanz-Cortes M, Belfort MA, Emrick L, Clark G, Joyeux L, Whitehead WE. Natural history of posterior fetal cephaloceles and incidence of progressive cephalocele herniation. J Neurosurg Pediatr. 2022 Sep 01; 30(3):342-348. PMID: 35901680.
      Citations:    Fields:    
    24. Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Bayat A, Devinsky O, Sands T, Korenke GC, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Ville D, M?ller RS, Kluger G, Weckhuysen S. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine. 2022 Jul; 81:104130. PMID: 35780567; PMCID: PMC9254340.
      Citations:    Fields:    Translation:Humans
    25. Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR, Tajsharghi H, Travaglini L, Nicita F. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321. PMID: 35471564; PMCID: PMC10054521.
      Citations:    Fields:    Translation:Humans
    26. Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA, Undiagnosed Diseases Network, Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203. PMID: 35396900; PMCID: PMC9197987.
      Citations:    Fields:    Translation:Humans
    27. Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA, Undiagnosed Diseases Network, Schedl T, Pak SC. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 05; 136(1):65-73. PMID: 35361529; PMCID: PMC10200280.
      Citations:    Fields:    Translation:HumansAnimals
    28. Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V, Cal? E. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum. 2023 Apr; 22(2):206-222. PMID: 35218524; PMCID: PMC9985553.
      Citations:    Fields:    
    29. Hull M, Emrick L, Sadat R, Parnes M. A case of treatable encephalopathy, developmental regression, and proximal tremor. Parkinsonism Relat Disord. 2021 12; 93:111-113. PMID: 34920839.
      Citations:    Fields:    Translation:Humans
    30. Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Ciliberto M, Cohen JS, Comi AM, Curry C, Emrick L, Fasano MB, Finkel RS, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Mintz CS, Mullegama SV, Oppermann H, Ostergaard E, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Undiagnosed Diseases Network, Xie Y, Chung WK, Brown NJ, Campos-Xavier B, Damaj L, Denomm?-Pichon AS, Faivre L, Fi?vet A, Garc?a-Mi?a?r S, Marcos-Alcalde I, M?ller RS, Odent S, Pacio-M?guez M, Rio M, Sousa SB, W?ber M, T?mer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 02; 43(2):266-282. PMID: 34859529.
      Citations:    Fields:    Translation:Humans
    31. Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G, Undiagnosed Diseases Network, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A, Moldovan O. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Mol Autism. 2021 10 26; 12(1):69. PMID: 34702355; PMCID: PMC8547031.
      Citations:    Fields:    Translation:Humans
    32. Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bjorgo K, Blanc X, Bolkier Y, Burrage LC, Granadillo JL, Dickson P, Donald KA, Eliyahu A, Emrick L, Engleman K, Good JM, Kalser J, Kloeckner C, Lachmeijer G, O'Heir E, Ortiz-Gonzalez X, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V, Bilan F, Van Bogaert P, Christ BU, Dubourg C, Gonfiantini MV, Macchiaiolo M, Nicita F, Odent S, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Vincent M. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct; 23(10):2016. PMID: 34522029.
      Citations:    Fields:    
    33. Marom R, Burrage LC, Venditti R, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B, Cl?ment A, Blanco-S?nchez B. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724. PMID: 34450031; PMCID: PMC8456174.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    34. Wilson JL, Gregory A, Kurian MA, Bushlin I, Emrick L, Adang L, BPAN Guideline Contributing Author Group, Hogarth P, Hayflick SJ, Mochel F. Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. Dev Med Child Neurol. 2021 12; 63(12):1402-1409. PMID: 34347296.
      Citations: 2     Fields:    Translation:Humans
    35. Sadat R, Emrick L. Genetic Testing and Counseling and Child Neurology. Neurol Clin. 2021 08; 39(3):705-717. PMID: 34215382.
      Citations:    Fields:    Translation:Humans
    36. Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bjorgo K, Blanc X, Bolkier Y, Burrage LC, Granadillo JL, Dickson P, Donald KA, Eliyahu A, Emrick L, Engleman K, Good JM, Kalser J, Kloeckner C, Lachmeijer G, O'Heir E, Ortiz-Gonzalez X, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V, Bilan F, Van Bogaert P, Christ BU, Dubourg C, Gonfiantini MV, Macchiaiolo M, Nicita F, Odent S, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Vincent M. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 10; 23(10):1922-1932. PMID: 34163037; PMCID: PMC8488020.
      Citations: 2     Fields:    Translation:Humans
    37. Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Undiagnosed Diseases Network, DDD Study, Bi W. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233. PMID: 33963760.
      Citations: 1     Fields:    Translation:Humans
    38. Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Undiagnosed Diseases Network, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324. PMID: 33949769; PMCID: PMC8562426.
      Citations:    Fields:    Translation:Humans
    39. Calame DG, Houck K, Lotze T, Emrick L, Parnes M. A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. Eur J Paediatr Neurol. 2021 Mar; 31:21-26. PMID: 33578253.
      Citations:    Fields:    Translation:Humans
    40. Calame DG, Hainlen M, Takacs D, Ferrante L, Pence K, Emrick LT, Chao HT. EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. Neurol Genet. 2021 Feb; 7(1):e539. PMID: 33553620; PMCID: PMC7862097.
      Citations: 1     
    41. Vanderver A, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ, LeukoSEQ Workgroup, Bernard G. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 08; 88(2):264-273. PMID: 32342562; PMCID: PMC8061316.
      Citations: 8     Fields:    Translation:Humans
    42. Lewis H, Samanta D, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Cruz M, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA, ?rsell JL, Raggio V, Fern?ndez-Ja?n A. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome. Pediatr Neurol. 2020 11; 112:94-100. PMID: 32446642; PMCID: PMC11348677.
      Citations: 4     Fields:    Translation:Humans
    43. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT, K?ry S. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583. PMID: 32197074; PMCID: PMC7118694.
      Citations: 15     Fields:    Translation:Humans
    44. Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64. PMID: 32173240; PMCID: PMC8399858.
      Citations: 12     Fields:    Translation:HumansCells
    45. Emrick LT, DiCarlo SM. The Expanding Role of Genetics in Cerebral Palsy. Phys Med Rehabil Clin N Am. 2020 02; 31(1):15-24. PMID: 31760988.
      Citations: 2     Fields:    Translation:Humans
    46. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WJ, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:1344. PMID: 32082103; PMCID: PMC7001677.
      Citations:    
    47. Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Ann Clin Transl Neurol. 2020 01; 7(1):83-93. PMID: 31814314; PMCID: PMC6952319.
      Citations: 9     Fields:    Translation:Humans
    48. Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Zhu B, Bai B, Stankiewicz P, Herman K, University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE, Keren B, Afenjar A, B?ttner B, Hoffer MJV. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679. PMID: 31616000; PMCID: PMC6794285.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    49. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WE, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:394. PMID: 31133775; PMCID: PMC6517487.
      Citations: 9     
    50. Lyons-Warren AM, Stowe RC, Emrick L, Jarrell JA. Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study. Am J Hosp Palliat Care. 2019 Nov; 36(11):959-966. PMID: 31014075.
      Citations: 2     Fields:    Translation:Humans
    51. Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5(2):e565. PMID: 31192300; PMCID: PMC6515944.
      Citations: 4     
    52. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B, Huber C, Cormier-Daire V, Bertola D, Yamamoto GL, Baratela WAR. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438. PMID: 30773277; PMCID: PMC6408318.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    53. Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656. PMID: 30568308; PMCID: PMC6586530.
      Citations: 1     Fields:    Translation:HumansCells
    54. Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479. PMID: 30569621.
      Citations: 3     Fields:    Translation:Humans
    55. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037. PMID: 30503518; PMCID: PMC6288200.
      Citations: 6     Fields:    Translation:HumansCells
    56. Stowe RC, Lyons-Warren AM, Emrick L. Clinical Reasoning: Ventriculomegaly detected on 20-week anatomic fetal ultrasound. Neurology. 2018 09 25; 91(13):e1265-e1268. PMID: 30249681.
      Citations: 1     Fields:    Translation:Humans
    57. Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Undiagnosed Diseases Network members, Lupski JR, Bostwick BL, Orange JS, Poli MC, Ebstein F, Benavides F, Zieba BA, K?ry S, Kr?ger E. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142. PMID: 29805043; PMCID: PMC5992134.
      Citations: 51     Fields:    Translation:HumansCells
    58. Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG, Kuechler A, Sch?ffer AA, Zweier C. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185. PMID: 29469822; PMCID: PMC6105555.
      Citations: 45     Fields:    Translation:HumansCells
    59. Karaa A, Rahman S, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A, Mito Working Group Member Participants, Lomb?s A. Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis. 2018 01; 41(1):151. PMID: 28980269; PMCID: PMC7790127.
      Citations: 1     Fields:    
    60. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P, Faivre L, Lefebvre M. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83. PMID: 28934986; PMCID: PMC5607840.
      Citations: 29     Fields:    Translation:Humans
    61. Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73. PMID: 28807008; PMCID: PMC5557075.
      Citations: 18     Fields:    Translation:Humans
    62. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF, Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905. PMID: 28742085; PMCID: PMC5557584.
      Citations: 36     Fields:    Translation:HumansAnimals
    63. Karaa A, Rahman S, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A, Mito Working Group Member Participants:, Lomb?s A. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis. 2017 05; 40(3):403-414. PMID: 28303425; PMCID: PMC7783474.
      Citations: 7     Fields:    Translation:Humans
    64. Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Sep; 8:61-6. PMID: 27504266; PMCID: PMC4969260.
      Citations: 25     
    65. El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016 Apr; 117(4):407-12. PMID: 26851065; PMCID: PMC4818739.
      Citations: 21     Fields:    Translation:Humans
    66. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57. PMID: 26805781; PMCID: PMC4746334.
      Citations: 35     Fields:    Translation:HumansCells
    67. Agarwal S, Emrick L. De Novo Mutations in Patients with Ataxic CP. Pediatr Neurol Briefs. 2015 Aug; 29(8):62. PMID: 26933599; PMCID: PMC4747133.
      Citations:    
    68. Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):91-4. PMID: 25956449.
      Citations: 20     Fields:    Translation:Humans
    69. Sarkar A, Emrick LT, Smith EM, Austin EG, Yang Y, Hunter JV, Scaglia F, Lalani SR. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. Am J Med Genet A. 2015 Apr; 167A(4):914-8. PMID: 25735261.
      Citations: 8     Fields:    Translation:Humans
    70. El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Jahoor F, Scaglia F, Craigen WJ. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion. 2014 Sep; 18:63-9. PMID: 25086207; PMCID: PMC4252755.
      Citations: 16     Fields:    Translation:HumansCells
    71. Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014 Oct; 164A(10):2633-7. PMID: 25044986; PMCID: PMC4496426.
      Citations: 5     Fields:    Translation:HumansCells
    72. El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014 Mar; 48:85-91. PMID: 24412347.
      Citations: 14     Fields:    Translation:HumansCells
    73. El-Hattab AW, Emrick LT, Williamson KC, Craigen WJ, Scaglia F. The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene. 2013 Dec; 1:8-14. PMID: 25411654; PMCID: PMC4205025.
      Citations: 9     
    74. El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab. 2012 Nov; 107(3):247-52. PMID: 22819233.
      Citations: 40     Fields:    Translation:HumansCells
    75. El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 Apr; 105(4):607-14. PMID: 22325939; PMCID: PMC4093801.
      Citations: 52     Fields:    Translation:Humans
    76. Aweeka FT, Gambertoglio JG, Kramer F, van der Horst C, Polsky B, Jayewardene A, Lizak P, Emrick L, Tong W, Jacobson MA. Foscarnet and ganciclovir pharmacokinetics during concomitant or alternating maintenance therapy for AIDS-related cytomegalovirus retinitis. Clin Pharmacol Ther. 1995 Apr; 57(4):403-12. PMID: 7712668.
      Citations: 4     Fields:    Translation:HumansCTClinical Trials
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