Ethan M. Scott

Clinic for Special Children

H指数:7

被引数:231

个人简介

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工作经历

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荣誉奖项

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The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model

KPTN相关疾病的临床谱系及小鼠模型中的神经发育发病机制

Annals of Neurology

IF7.7

2026-02-160

OAAI

Lettie E. Rawlins MBChB, PhD; Philip H. Iffland II PhD; John Page MS; Rebecca Z. Flessner MD; Soad M. Elziny PhD; Irina Sbornova BS; Janice K. Babus BA; Sophie R. Bruckmeier PhD; Ria Parikh BS; Merel Verhoeven BS; James Fasham MBChB, PhD; Joseph S. Leslie PhD; Richard Caswell PhD; Nishanka Ubeyratna MSc; Olivia Wenger MD; Ethan M. Scott MD; John Schreiber MD; Steffen Syrbe MD, PhD; Annick Klabunde-Cherwon MD; Martina Owens BSc Hons, MSc; Andrew H. Crosby PhD; Emma L. Baple MBBS, PhD; Peter B. Crino MD, PhD; the KPTN Consortium

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

双等位UGGT1变异导致先天性糖基化障碍

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-05-011

OAAI

Dardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

BRAIN

IF11.7

2023-07-121

OAAI

Levitin, Maria O.; Rawlins, Lettie E.; Sanchez-Andrade, Gabriela; Arshad, Osama A.; Collins, Stephan C.; Sawiak, Stephen J.; Iffland II, Phillip H.; Andersson, Malin H. L.; Bupp, Caleb; Cambridge, Emma L.; Coomber, Eve L.; Ellis, Ian; Herkert, Johanna C.; Ironfield, Holly; Jory, Logan; Kretz, Perrine F.; Kant, Sarina G.; Neaverson, Alexandra; Nibbeling, Esther; Rowley, Christine; Relton, Emily; Sanderson, Mark; Scott, Ethan M.; Stewart, Helen; Shuen, Andrew Y.; Schreiber, John; Tuck, Liz; Tonks, James; Terkelsen, Thorkild; van Ravenswaaij-Arts, Conny; Vasudevan, Pradeep; Wenger, Olivia; Wright, Michael; Day, Andrew; Hunter, Adam; Patel, Minal; Lelliott, Christopher J.; Crino, Peter B.; Yalcin, Binnaz; Crosby, Andrew H.; Baple, Emma L.; Logan, Darren W.; Hurles, Matthew E.; Gerety, Sebastian S.

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder

PLOS GENETICS

IF3.7

2021-09-277

OAAI

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

双等位基因PI4KA变体引起神经，肠道和免疫性疾病

BRAIN

IF11.7

2021-08-2028

OAAI

Salter, Claire G.; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S.; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A.; Ferla, Matteo P.; Chioza, Barry A.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Melver, Catherine Ward; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N.; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Vockley, Catherine Walsh; Butte, Manish J.; Acar, Utkucan; van der Knaap, Marjo S.; Korenke, G. Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H.; Crosby, Andrew H.; De Camilli, Pietro; Wolf, Nicole, I; Baple, Emma L.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2020-01-068

PREAI

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-04-0133

PREAI

Osteoactivin Promotes Osteoblast Adhesion Through HSPG and αvβ1 Integrin

骨激活素通过HSPG和 αvβ1整合素促进成骨细胞粘附