Joseph S. Leslie

University of Exeter

H指数:11

被引数:297

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

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

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement

CELLS

IF5.2

2024-06-111

OAAI

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

BRAIN

IF11.7

2023-07-176

OAAI

Fasham, James; Huebner, Antje K.; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B.; Leslie, Joseph S.; Ubeyratna, Nishanka; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Wilke, Martina; Haack, Tobias B.; Shamseldin, Hanan E.; Gleeson, Joseph G.; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S.; Wakeling, Matthew N.; McGavin, Lucy; Turnpenny, Peter D.; Alkuraya, Fowzan S.; Houlden, Henry; Schlattmann, Peter; Kaila, Kai; Crosby, Andrew H.; Baple, Emma L.; Huebner, Christian A.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-11-016

OAAI

Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L.

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

GENETICS IN MEDICINE

IF6.2

2022-11-014

Leslie, Joseph S.; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A.; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H.; Craig, Samuel B.; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Lorentzen, Esben; Norris, Dominic P.; Anikster, Yair; Omran, Heymut; Grimes, Daniel T.; Crosby, Andrew H.; Baple, Emma L.

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-06-287

OAAI

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

BRAIN

IF11.7

2022-06-1820

OAAI

Tabara, Luis Carlos; Al-Salmi, Fatema; Maroofian, Reza; Al-Futaisi, Amna Mohammed; Al-Murshedi, Fathiya; Kennedy, Joanna; Day, Jacob O.; Courtin, Thomas; Al-Khayat, Aisha; Galedari, Hamid; Mazaheri, Neda; Protasoni, Margherita; Johnson, Mark; Leslie, Joseph S.; Salter, Claire G.; Rawlins, Lettie E.; Fasham, James; Al-Maawali, Almundher; Voutsina, Nikol; Charles, Perrine; Harrold, Laura; Keren, Boris; Kunji, Edmund R. S.; Vona, Barbara; Jelodar, Gholamreza; Sedaghat, Alireza; Shariati, Gholamreza; Houlden, Henry; Crosby, Andrew H.; Prudent, Julien; Baple, Emma L.

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

PLOS GENETICS

IF3.7

2022-03-1716

OAAI

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.

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-05-205

OAAI

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

PARKINSONISM & RELATED DISORDERS

IF3.4

2021-01-018

OAAI

No association between SCN9A and monogenic human epilepsy disorders

PLOS GENETICS