Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G.

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice

JOURNAL OF THE AMERICAN HEART ASSOCIATION

IF5.3

2022-12-066

OAAI

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-09-016

OAAI

Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

BRAIN

IF11.7

2021-12-249

Cabrera-Serrano, Macarena; Caccavelli, Laure; Savarese, Marco; Vihola, Anna; Jokela, Manu; Johari, Mridul; Capiod, Thierry; Madrange, Marine; Bugiardini, Enrico; Brady, Stefen; Quinlivan, Rosaline; Merve, Ashirwad; Scalco, Renata; Hilton-Jones, David; Houlden, Henry; Aydin, Halil Ibrahim; Ceylaner, Serdar; Drewes, Sarah; Vockley, Jerry; Taylor, Rhonda L.; Folland, Chiara; Kelly, Aasta; Goullee, Hayley; Ylikallio, Emil; Auranen, Mari; Tyynismaa, Henna; Udd, Bjarne; Forrest, Alistair R. R.; Davis, Mark R.; Bratkovic, Drago; Manton, Nicholas; Robertson, Thomas; O'Gorman, Cullen; McCombe, Pamela; Laing, Nigel G.; Phillips, Liza; de Lonlay, Pascale; Ravenscroft, Gianina

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

BMJ-BRITISH MEDICAL JOURNAL

IF42.7

2021-11-0341

OAAI

Schon, Katherine R.; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibanez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D. S.; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G.; Clement, Emma; Ashton, Emma; Sayer, John A.; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fratter, Carl; Nesbitt, Victoria; Barrett, Timothy; McMullen, Dominic J.; Smith, Audrey; Deshpande, Charulata; Smithson, Sarah F.; Festenstein, Richard; Canham, Natalie; Caulfield, Mark; Houlden, Henry; Rahman, Shamima; Chinnery, Patrick F.

Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2021-06-011

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

ANNALS OF NEUROLOGY

IF7.7

2021-04-0114

OAAI

ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms

NEUROLOGY

IF8.5

2021-02-095

OAAI

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

RNF170的突变导致前庭反射的感觉共济失调性神经病: 画布模拟

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2020-09-1712

OAAI

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2020-06-1114

PREAI

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (vol 16, pg 613, 2020)

NATURE GENETICS

IF31.8

2020-05-261

OAAI

Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schule, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

SORD中的双等位基因突变导致常见且可能可治疗的遗传性神经病，对糖尿病有影响

NATURE GENETICS

IF31.8

2020-05-04112

OAAI

Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P.; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J.; Bai, Yunhong; Bis-Brewer, Dana M.; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C.; Feely, Shawna M. E.; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A.; Isasi, Rosario; Khan, Alaa; Laura, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M.; Saveri, Paola; Sowden, Janet E.; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S.; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schuele, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A.; Hamed, Sherifa A.; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N.; Reilly, Mary M.; Shy, Michael E.; Zhai, R. Grace; Zuchner, Stephan

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

NEUROLOGY-GENETICS

IF3.7

2020-04-012

OAAI

Wernicke's encephalopathy, refeeding syndrome and wet beriberi after laparoscopic sleeve gastrectomy: the importance of thiamine evaluation

European Journal of Clinical Nutrition

IF3.3

2020-02-116

PREAI

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

NEUROLOGY-GENETICS