Fernando Scaglia

Affiliations
  • Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Texas Children's Hospital, Houston, TX, United States.
  • Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR.

Publications (48)

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.

Molecular genetics and metabolism reports
Avec: Claudia Soler-Alfonso , Nishita Pillai , Erin Cooney , Krupa R Mysore , Suzanne Boyer , Fernando Scaglia

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

American journal of medical genetics. Part A
Avec: Brian J Shayota , Claudia Soler-Alfonso , Mir Reza Bekheirnia , Elizabeth Mizerik , Suzy W Boyer , Rui Xiao , Yaping Yang , Sarah H Elsea , Fernando Scaglia

Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation.

Hypertension (Dallas, Tex. : 1979)
Avec: Xiqi Li , Aleksandar Milosavljevic , Sarah H Elsea , Chi Chiu Wang , Fernando Scaglia , Argyro Syngelaki , Kypros H Nicolaides , Liona C Poon

Characterization and Biological Activity of Fiber-Type

Plants (Basel, Switzerland)
Avec: Giulia Mastellone , Arianna Marengo , Barbara Sgorbini , Federica Scaglia , Francesca Capetti , Francesco Gai , Pier Giorgio Peiretti , Patrizia Rubiolo , Cecilia Cagliero

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Christina Y Miyake , Erica J Lay , Claudia Soler-Alfonso , Kevin E Glinton , Kimberly M Houck , Mustafa Tosur , Nancy E Moran , Sara B Stephens , Fernando Scaglia , Taylor S Howard , Jeffrey J Kim , Tam Dam Pham , Santiago O Valdes , Na Li , Chaya N Murali , Lilei Zhang , Maina Kava , Deane Yim , Cheyenne Beach , Gregory Webster , Leonardo Liberman , Christopher M Janson , Prince J Kannankeril , Samantha Baxter , Moriel Singer-Berk , Jordan Wood , Samuel J Mackenzie , Michael Sacher , Lina Ghaloul-Gonzalez , Claudia Pedroza , Shaine A Morris , Saad A Ehsan , Mahshid S Azamian , Seema R Lalani

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Molecular genetics and metabolism
Avec: Christina Lam , Fernando Scaglia , Gerard T Berry , Austin Larson , Kyriakie Sarafoglou , Hans C Andersson , Evgenia Sklirou , Queenie K G Tan , Rodrigo T Starosta , Mustafa Sadek , Lynne Wolfe , Seishu Horikoshi , May Ali , Rita Barone , Teresa Campbell , Irene J Chang , Kiaira Coles , Edward Cook , Erik A Eklund , Nicole M Engelhardt , Mary Freeman , Jennifer Friedman , Debbie Y T Fu , Grace Botzo , Brandy Rawls , Christien Hernandez , Christin Johnsen , Kierstin Keller , Sara Kramer , Bryce Kuschel , Angela Leshinski , Ivan Martinez-Duncker , Gina L Mazza , Saadet Mercimek-Andrews , Bradley S Miller , Karthik Muthusamy , Juanita Neira , Marc C Patterson , Natalie Pogorelc , Lex N Powers , Elizabeth Ramey , Michaela Reinhart , Audrey Squire , Jenny Thies , Jerry Vockley , Hayden Vreugdenhil , Peter Witters , Mehdi Youbi , Aziza Zeighami , Roni Zemet , Andrew C Edmondson , Eva Morava

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.

Neurology
Avec: Karen L Madsen , Astrid E Buch , Bruce H Cohen , Marni J Falk , Angela Goldsberry , Amy Goldstein , Amel Karaa , Mary K Koenig , Colleen C Muraresku , Colin Meyer , Megan O'Grady , Fernando Scaglia , Perry B Shieh , Jerry Vockley , Zarazuela Zolkipli-Cunningham , Ronald G Haller , John Vissing

Neurology. Genetics
Avec: Joseph M Sliepka , Sarah C McGriff , Linda Z Rossetti , Peyman Bizargity , Haley Streff , Yi-Shan Lee , Hongzheng Dai , Satyamaanasa Polubothu , Grace Lee , Vicky Ren , Jill V Hunter , Daniel J Curry , Fernando Scaglia , Adekunle M Adesina , Irfan Ali , Veronica Kinsler , Lindsay C Burrage , Dana Marafi

Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolism.

Data in brief
Avec: Xiaofan Zhu , Hoi Ioi Ng , Liming Xuan , Yan Long , Yan Mao , Yu Shi , Liying Sun , Bo Liang , Fernando Scaglia , Zhijun Zhu , Kwong Wai Choy

Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism.

Molecular genetics and metabolism
Avec: Hoi Ioi Ng , Xiaofan Zhu , Liming Xuan , Yan Long , Yan Mao , Yu Shi , Liying Sun , Bo Liang , Fernando Scaglia , Kwong Wai Choy , Zhijun Zhu

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

American journal of medical genetics. Part A
Avec: Changrui Xiao , Esteban Astiazaran-Symonds , Shrabani Basu , Monisha Kisling , Fernando Scaglia , Kimberly A Chapman , Yudong Wang , Jerry Vockley , Carlos R Ferreira

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Molecular genetics and metabolism
Avec: KimberlyA Kripps , Warapan Nakayuenyongsuk , Brian J Shayota , William Berquist , Natalia Gomez-Ospina , Carlos O Esquivel , Waldo Concepcion , Jacinda B Sampson , David J Cristin , Whitney E Jackson , Samuel Gilliland , Elizabeth A Pomfret , Michael L Kueht , Rowland W Pettit , Youmna A Sherif , Lisa T Emrick , Sarah H Elsea , Ryan Himes , Michio Hirano , Johan L K Van Hove , Fernando Scaglia , Gregory M Enns , Austin A Larson

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurology. Genetics
Avec: Emanuele Barca , Yuelin Long , Victoria Cooley , Robert Schoenaker , Valentina Emmanuele , Salvatore DiMauro , Bruce H Cohen , Amel Karaa , Georgirene D Vladutiu , Richard Haas , Johan L K Van Hove , Fernando Scaglia , Sumit Parikh , Jirair K Bedoyan , Susanne D DeBrosse , Ralitza H Gavrilova , Russell P Saneto , Gregory M Enns , Peter W Stacpoole , Jaya Ganesh , Austin Larson , Zarazuela Zolkipli-Cunningham , Marni J Falk , Amy C Goldstein , Mark Tarnopolsky , Andrea Gropman , Kathryn Camp , Danuta Krotoski , Kristin Engelstad , Xiomara Q Rosales , Joshua Kriger , Johnston Grier , Richard Buchsbaum , John L P Thompson , Michio Hirano

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Genome medicine
Avec: Margot A Cousin , Emma L Veale , Nikita R Dsouza , Swarnendu Tripathi , Robyn G Holden , Maria Arelin , Geoffrey Beek , Mir Reza Bekheirnia , Jasmin Beygo , Vikas Bhambhani , Martin Bialer , Stefania Bigoni , Cyrus Boelman , Jenny Carmichael , Thomas Courtin , Benjamin Cogne , Ivana Dabaj , Diane Doummar , Laura Fazilleau , Alessandra Ferlini , Ralitza H Gavrilova , John M Graham , Tobias B Haack , Jane Juusola , Sarina G Kant , Saima Kayani , Boris Keren , Petra Ketteler , Chiara Klöckner , Tamara T Koopmann , Teresa M Kruisselbrink , Alma Kuechler , Laëtitia Lambert , Xénia Latypova , Robert Roger Lebel , Magalie S Leduc , Emanuela Leonardi , Andrea M Lewis , Wendy Liew , Keren Machol , Samir Mardini , Kirsty McWalter , Cyril Mignot , Julie McLaughlin , Alessandra Murgia , Vinodh Narayanan , Caroline Nava , Sonja Neuser , Mathilde Nizon , Davide Ognibene , Joohyun Park , Konrad Platzer , Céline Poirsier , Maximilian Radtke , Keri Ramsey , Cassandra K Runke , Maria J Guillen Sacoto , Fernando Scaglia , Marwan Shinawi , Stephanie Spranger , Ee Shien Tan , John Taylor , Anne-Sophie Trentesaux , Filippo Vairo , Rebecca Willaert , Neda Zadeh , Raul Urrutia , Dusica Babovic-Vuksanovic , Michael T Zimmermann , Alistair Mathie , Eric W Klee

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Georg F Vogel , Yael Mozer-Glassberg , Yuval E Landau , Lea D Schlieben , Holger Prokisch , René G Feichtinger , Johannes A Mayr , Heiko Brennenstuhl , Julian Schröter , Agnes Pechlaner , Fowzan S Alkuraya , Joshua J Baker , Giulia Barcia , Ivo Baric , Nancy Braverman , Birute Burnyte , John Christodoulou , Elzbieta Ciara , David Coman , Anibh M Das , Niklas Darin , Adela Della Marina , Felix Distelmaier , Erik A Eklund , Melike Ersoy , Weiyan Fang , Pauline Gaignard , Rebecca D Ganetzky , Emmanuel Gonzales , Caoimhe Howard , Joanne Hughes , Vassiliki Konstantopoulou , Melis Kose , Marina Kerr , Aneal Khan , Dominic Lenz , Robert McFarland , Merav Gil Margolis , Kevin Morrison , Thomas Müller , Kei Murayama , Emanuele Nicastro , Alessandra Pennisi , Heidi Peters , Dorota Piekutowska-Abramczuk , Agnès Rötig , René Santer , Fernando Scaglia , Manuel Schiff , Mohmmad Shagrani , Mark Sharrard , Claudia Soler-Alfonso , Christian Staufner , Imogen Storey , Michael Stormon , Robert W Taylor , David R Thorburn , Elisa Leao Teles , Jian-She Wang , Daniel Weghuber , Saskia Wortmann

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

American journal of medical genetics. Part A
Avec: Nishitha R Pillai , Hitha Amin , Charul Gijavanekar , Ning Liu , Niveen Issaq , Katarzyna A Broniowska , Alison A Bertuch , V Reid Sutton , Sarah H Elsea , Fernando Scaglia

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Peter Witters , Shawn Tahata , Rita Barone , Katrin Õunap , Ramona Salvarinova , Sabine Grønborg , George Hoganson , Fernando Scaglia , Andrea Margaret Lewis , Mari Mori , Jolanta Sykut-Cegielska , Andrew Edmondson , Miao He , Eva Morava

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

American journal of medical genetics. Part A
Avec: Nishitha R Pillai , Noura S AlDhaheri , Rajarshi Ghosh , Jaehyung Lim , Haley Streff , Anuranjita Nayak , Brett H Graham , Neil A Hanchard , Sarah H Elsea , Fernando Scaglia

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Alexandria T M Blackburn , Nasim Bekheirnia , Vanessa C Uma , Mark E Corkins , Yuxiao Xu , Jill A Rosenfeld , Matthew N Bainbridge , Yaping Yang , Pengfei Liu , Suneeta Madan-Khetarpal , Mauricio R Delgado , Louanne Hudgins , Ian Krantz , David Rodriguez-Buritica , Patricia G Wheeler , Lihadh Al-Gazali , Aisha Mohamed Saeed Mohamed Al Shamsi , Natalia Gomez-Ospina , Hsiao-Tuan Chao , Ghayda M Mirzaa , Angela E Scheuerle , Mary K Kukolich , Fernando Scaglia , Christine Eng , Helen Rankin Willsey , Michael C Braun , Dolores J Lamb , Rachel K Miller , Mir Reza Bekheirnia

Palaeoproteomics resolves sloth relationships.

Nature ecology & evolution
Avec: Samantha Presslee , Graham J Slater , François Pujos , Analía M Forasiepi , Roman Fischer , Kelly Molloy , Meaghan Mackie , Jesper V Olsen , Alejandro Kramarz , Matías Taglioretti , Fernando Scaglia , Maximiliano Lezcano , José Luis Lanata , John Southon , Robert Feranec , Jonathan Bloch , Adam Hajduk , Fabiana M Martin , Rodolfo Salas Gismondi , Marcelo Reguero , Christian de Muizon , Alex Greenwood , Brian T Chait , Kirsty Penkman , Matthew Collins , Ross D E MacPhee

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

Molecular genetics & genomic medicine
Avec: Brian J Shayota , Nhon T Le , Nasim Bekheirnia , Jill A Rosenfeld , Amy C Goldstein , Michael Moritz , Dennis W Bartholomew , Matthew T Pastore , Fan Xia , Christine Eng , Yaping Yang , Dolores J Lamb , Fernando Scaglia , Michael C Braun , Mir Reza Bekheirnia

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

American journal of medical genetics. Part A
Avec: Allison Tam , Noura Salem AlDhaheri , Krupa Mysore , Mary Elizabeth Tessier , John Goss , Luis A Fernandez , Anthony M D'Alessandro , Jessica Scott Schwoerer , Gregory M Rice , Sarah H Elsea , Fernando Scaglia

Petrography descriptions and U-Pb zircon datasets from the Archean Pavas Block, Precambrian of Uruguay.

Data in brief
Avec: Henri Masquelin , Tahar Aïfa , Fernando Scaglia , Miguel A S Basei

Expansion of the clinical phenotype of GALE deficiency.

American journal of medical genetics. Part A
Avec: Rebecca Markovitz , Nichole Owen , Lisa Forbes Satter , Susan Kirk , Donald H Mahoney , Alison A Bertuch , Fernando Scaglia

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Molecular genetics and metabolism
Avec: Valentina Emmanuele , Jaya Ganesh , Georgirene Vladutiu , Richard Haas , Douglas Kerr , Russell P Saneto , Bruce H Cohen , Johan L K Van Hove , Fernando Scaglia , Charles Hoppel , Xiomara Q Rosales , Emanuele Barca , Richard Buchsbaum , John L Thompson , Salvatore DiMauro , Michio Hirano , Auteur inconnu

Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.

American journal of medical genetics. Part A
Avec: Yoel Gofin , Xiaonan Zhao , Amanda Gerard , Fernando Scaglia , Michael F Wangler , Samantha A Schrier Vergano , Daryl A Scott

Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.

American journal of medical genetics. Part A
Avec: Shuk Ching Chong , Ye Cao , Eva L W Fung , Soledad Kleppe , Karen W Gripp , Jozef Hertecant , Ayman W El-Hattab , Jehan Suleiman , Gary Clark , Gretchen von Allmen , Olga Rodziyevska , Richard A Lewis , Jill A Rosenfeld , Jie Dong , Auteur inconnu , Xia Wang , Marcus J Miller , Weimin Bi , Pengfei Liu , Fernando Scaglia

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

Neurology
Avec: Amel Karaa , Enrico Bertini , Valerio Carelli , Bruce H Cohen , Gregory M Enns , Marni J Falk , Amy Goldstein , Gráinne Siobhan Gorman , Richard Haas , Michio Hirano , Thomas Klopstock , Mary Kay Koenig , Cornelia Kornblum , Costanza Lamperti , Anna Lehman , Nicola Longo , Maria Judit Molnar , Sumit Parikh , Han Phan , Robert D S Pitceathly , Russell Saneto , Fernando Scaglia , Serenella Servidei , Mark Tarnopolsky , Antonio Toscano , Johan L K Van Hove , John Vissing , Jerry Vockley , Jeffrey S Finman , David A Brown , James A Shiffer , Michelango Mancuso , Auteur inconnu

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

BMC neurology
Avec: Ameya S Walimbe , Keren Machol , Stephen F Kralik , Elizabeth A Mizerik , Yoel Gofin , Mir Reza Bekheirnia , Charul Gijavanekar , Sarah H Elsea , Lisa T Emrick , Fernando Scaglia

Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.

American journal of medical genetics. Part A
Avec: Amanda Gerard , Elizabeth Mizerik , Carrie A Mohila , Sarah AlAwami , Jill V Hunter , Debra L Kearney , Seema R Lalani , Fernando Scaglia

Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.

American journal of medical genetics. Part A
Avec: Matthew T Snyder , Joshua Manor , Charul Gijavanekar , Elizabeth Mizerik , Stephen F Kralik , Sarah H Elsea , Keren Machol , Lisa Emrick , Fernando Scaglia

Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lindsay C Burrage , Lillian Thistlethwaite , Bridget M Stroup , Qin Sun , Marcus J Miller , Sandesh C S Nagamani , William Craigen , Fernando Scaglia , V Reid Sutton , Brett Graham , Adam D Kennedy , Auteur inconnu , Aleksandar Milosavljevic , Brendan H Lee , Sarah H Elsea

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Molecular genetics and metabolism
Avec: Nishitha R Pillai , Bridget M Stroup , Anna Poliner , Linda Rossetti , Brandy Rawls , Brian J Shayota , Claudia Soler-Alfonso , Hari Priya Tunuguntala , John Goss , William Craigen , Fernando Scaglia , V Reid Sutton , Ryan Wallace Himes , Lindsay C Burrage

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

American journal of human genetics
Avec: Justyna A Karolak , Marie Vincent , Gail Deutsch , Tomasz Gambin , Benjamin Cogné , Olivier Pichon , Francesco Vetrini , Heather C Mefford , Jennifer N Dines , Katie Golden-Grant , Katrina Dipple , Amanda S Freed , Kathleen A Leppig , Megan Dishop , David Mowat , Bruce Bennetts , Andrew J Gifford , Martin A Weber , Anna F Lee , Cornelius F Boerkoel , Tina M Bartell , Catherine Ward-Melver , Thomas Besnard , Florence Petit , Iben Bache , Zeynep Tümer , Marie Denis-Musquer , Madeleine Joubert , Jelena Martinovic , Claire Bénéteau , Arnaud Molin , Dominique Carles , Gwenaelle André , Eric Bieth , Nicolas Chassaing , Louise Devisme , Lara Chalabreysse , Laurent Pasquier , Véronique Secq , Massimiliano Don , Maria Orsaria , Chantal Missirian , Jérémie Mortreux , Damien Sanlaville , Linda Pons , Sébastien Küry , Stéphane Bézieau , Jean-Michel Liet , Nicolas Joram , Tiphaine Bihouée , Daryl A Scott , Chester W Brown , Fernando Scaglia , Anne Chun-Hui Tsai , Dorothy K Grange , John A Phillips , Jean P Pfotenhauer , Shalini N Jhangiani , Claudia G Gonzaga-Jauregui , Wendy K Chung , Galen M Schauer , Mark H Lipson , Catherine L Mercer , Arie van Haeringen , Qian Liu , Edwina Popek , Zeynep H Coban Akdemir , James R Lupski , Przemyslaw Szafranski , Bertrand Isidor , Cedric Le Caignec , Paweł Stankiewicz

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Human mutation
Avec: Bobby G Ng , Paulina Sosicka , Satish Agadi , Mohammed Almannai , Carlos A Bacino , Rita Barone , Lorenzo D Botto , Jennifer E Burton , Colleen Carlston , Brian Hon-Yin Chung , Julie S Cohen , David Coman , Katrina M Dipple , Naghmeh Dorrani , William B Dobyns , Abdallah F Elias , Leon Epstein , William A Gahl , Domenico Garozzo , Trine Bjørg Hammer , Jaclyn Haven , Delphine Héron , Matthew Herzog , George E Hoganson , Jesse M Hunter , Mahim Jain , Jane Juusola , Shenela Lakhani , Hane Lee , Joy Lee , Katherine Lewis , Nicola Longo , Charles Marques Lourenço , Christopher C Y Mak , Dianalee McKnight , Bryce A Mendelsohn , Cyril Mignot , Ghayda Mirzaa , Wendy Mitchell , Hiltrud Muhle , Stanley F Nelson , Mariusz Olczak , Christina G S Palmer , Arthur Partikian , Marc C Patterson , Tyler M Pierson , Shane C Quinonez , Brigid M Regan , M Elizabeth Ross , Maria J Guillen Sacoto , Fernando Scaglia , Ingrid E Scheffer , Devorah Segal , Nilika Shah Singhal , Pasquale Striano , Luisa Sturiale , Joseph D Symonds , Sha Tang , Eric Vilain , Mary Willis , Lynne A Wolfe , Hui Yang , Shoji Yano , Zöe Powis , Sharon F Suchy , Jill A Rosenfeld , Andrew C Edmondson , Stephanie Grunewald , Hudson H Freeze

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.

American journal of medical genetics. Part A
Avec: Alona Birjiniuk , Kevin E Glinton , Natalie Villafranco , Suzanne Boyer , Jason Laufman , Elizabeth Mizerik , Daryl Scott , Sarah H Elsea , Csaba Galambos , Nidhy P Varghese , Fernando Scaglia

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Alexandria T M Blackburn , Nasim Bekheirnia , Vanessa C Uma , Mark E Corkins , Yuxiao Xu , Jill A Rosenfeld , Matthew N Bainbridge , Yaping Yang , Pengfei Liu , Suneeta Madan-Khetarpal , Mauricio R Delgado , Louanne Hudgins , Ian Krantz , David Rodriguez-Buritica , Patricia G Wheeler , Lihadh Al-Gazali , Aisha Mohamed Saeed Mohamed Al Shamsi , Natalia Gomez-Ospina , Hsiao-Tuan Chao , Ghayda M Mirzaa , Angela E Scheuerle , Mary K Kukolich , Fernando Scaglia , Christine Eng , Helen Rankin Willsey , Michael C Braun , Dolores J Lamb , Rachel K Miller , Mir Reza Bekheirnia

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to

Case reports in pediatrics
Avec: Shuk Ching Chong , Kam Lun Hon , Fernando Scaglia , Chung Mo Chow , Yu Ming Fu , Tor Wo Chiu , Alexander K C Leung

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

American journal of medical genetics. Part A
Avec: John Odom , Hitha Amin , Charul Gijavanekar , Sarah H Elsea , Stephen Kralik , Javier Chinen , Yuezhen Lin , Amber Meshell Mayfield Yates , Elizabeth Mizerik , Lorraine Potocki , Fernando Scaglia

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

Journal of child neurology
Avec: Jaehyung Lim , Brian J Shayota , Erica Lay , Sarah H Elsea , Mir Reza Bekheirnia , Mary Elizabeth M Tessier , Stephen F Kralik , Gregory M Rice , Claudia Soler-Alfonso , Fernando Scaglia

Clinical trials in mitochondrial disorders, an update.

Molecular genetics and metabolism
Avec: Mohammed Almannai , Ayman W El-Hattab , May Ali , Claudia Soler-Alfonso , Fernando Scaglia

TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.

Molecular genetics and metabolism
Avec: Chaya N Murali , Claudia Soler-Alfonso , Kathleen M Loomes , Amit A Shah , Danielle Monteil , Carmencita D Padilla , Fernando Scaglia , Rebecca Ganetzky

NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.

Molecular genetics and metabolism
Avec: Joshua Manor , Daniel Calame , Charul Gijavanekar , Kristen Fisher , Jill Hunter , Elizabeth Mizerik , Carlos Bacino , Fernando Scaglia , Sarah H Elsea

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Movement disorders clinical practice
Avec: Jonna Komulainen-Ebrahim , Salla M Kangas , Estrella López-Martín , Timothy Feyma , Fernando Scaglia , Beatriz Martínez-Delgado , Outi Kuismin , Maria Suo-Palosaari , Lucinda Carr , Reetta Hinttala , Manju A Kurian , Johanna Uusimaa

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.

Advanced genetics (Hoboken, N.J.)
Avec: Amel Karaa , Laura E MacMullen , John C Campbell , John Christodoulou , Bruce H Cohen , Thomas Klopstock , Yasutoshi Koga , Costanza Lamperti , Rob van Maanen , Robert McFarland , Sumit Parikh , Shamima Rahman , Fernando Scaglia , Alexander V Sherman , Philip Yeske , Marni J Falk

Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.

American journal of medical genetics. Part A
Avec: Laura Mackay , Charul Gijavanekar , Haley Streff , Jack F Price , Sarah H Elsea , Fernando Scaglia

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Molecular genetics and metabolism
Avec: Roni Zemet , Kyle D Hope , Andrew C Edmondson , Rameen Shah , Maria Patino , Abigail M Yesso , Justin H Berger , Kyriakie Sarafoglou , Austin Larson , Christina Lam , Eva Morava , Fernando Scaglia

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.

Frontiers in genetics
Avec: Chen-Han Wilfred Wu , Alicja Tomaszewski , Louisa Stark , Fernando Scaglia , Ewa Elenberg , Fredrick R Schumaker

Réseau de co-auteurs

Sarah H Elsea 14 collaborations
Claudia Soler-Alfonso 8 collaborations
Mir Reza Bekheirnia 7 collaborations
Elizabeth Mizerik 6 collaborations
Charul Gijavanekar 6 collaborations
Brian J Shayota 5 collaborations
Bruce H Cohen 5 collaborations
Jill A Rosenfeld 5 collaborations
Yaping Yang 4 collaborations
Jerry Vockley 4 collaborations
Marni J Falk 4 collaborations
Amel Karaa 4 collaborations
Michio Hirano 4 collaborations
Johan L K Van Hove 4 collaborations
None None 4 collaborations
Austin Larson 3 collaborations
Rita Barone 3 collaborations
Andrew C Edmondson 3 collaborations
Eva Morava 3 collaborations
Haley Streff 3 collaborations
Lindsay C Burrage 3 collaborations
Natalia Gomez-Ospina 3 collaborations
Gregory M Enns 3 collaborations
Richard Haas 3 collaborations
Sumit Parikh 3 collaborations
Keren Machol 3 collaborations
Nishitha R Pillai 3 collaborations
V Reid Sutton 3 collaborations
Nasim Bekheirnia 3 collaborations
Pengfei Liu 3 collaborations
Christine Eng 3 collaborations
Michael C Braun 3 collaborations
Dolores J Lamb 3 collaborations
Stephen F Kralik 3 collaborations
Suzanne Boyer 2 collaborations
Aleksandar Milosavljevic 2 collaborations
Kevin E Glinton 2 collaborations
Chaya N Murali 2 collaborations
Seema R Lalani 2 collaborations
Christina Lam 2 collaborations
Kyriakie Sarafoglou 2 collaborations
May Ali 2 collaborations
Erik A Eklund 2 collaborations
Brandy Rawls 2 collaborations
Marc C Patterson 2 collaborations
Peter Witters 2 collaborations
Roni Zemet 2 collaborations
Amy Goldstein 2 collaborations
Zarazuela Zolkipli-Cunningham 2 collaborations
John Vissing 2 collaborations
Jill V Hunter 2 collaborations
Xiaofan Zhu 2 collaborations
Hoi Ioi Ng 2 collaborations
Liming Xuan 2 collaborations
Yan Long 2 collaborations
Yan Mao 2 collaborations
Yu Shi 2 collaborations
Liying Sun 2 collaborations
Bo Liang 2 collaborations
Zhijun Zhu 2 collaborations
Kwong Wai Choy 2 collaborations
Lisa T Emrick 2 collaborations
Emanuele Barca 2 collaborations
Valentina Emmanuele 2 collaborations
Salvatore DiMauro 2 collaborations
Ralitza H Gavrilova 2 collaborations
Russell P Saneto 2 collaborations
Jaya Ganesh 2 collaborations
Amy C Goldstein 2 collaborations
Mark Tarnopolsky 2 collaborations
Xiomara Q Rosales 2 collaborations
Richard Buchsbaum 2 collaborations
Jane Juusola 2 collaborations
Cyril Mignot 2 collaborations
Maria J Guillen Sacoto 2 collaborations
John Christodoulou 2 collaborations
David Coman 2 collaborations
Robert McFarland 2 collaborations
Hitha Amin 2 collaborations
Alison A Bertuch 2 collaborations
Jaehyung Lim 2 collaborations
Alexandria T M Blackburn 2 collaborations
Vanessa C Uma 2 collaborations
Mark E Corkins 2 collaborations
Yuxiao Xu 2 collaborations
Matthew N Bainbridge 2 collaborations
Suneeta Madan-Khetarpal 2 collaborations
Mauricio R Delgado 2 collaborations
Louanne Hudgins 2 collaborations
Ian Krantz 2 collaborations
David Rodriguez-Buritica 2 collaborations
Patricia G Wheeler 2 collaborations
Lihadh Al-Gazali 2 collaborations
Aisha Mohamed Saeed Mohamed Al Shamsi 2 collaborations
Hsiao-Tuan Chao 2 collaborations
Ghayda M Mirzaa 2 collaborations
Angela E Scheuerle 2 collaborations
Mary K Kukolich 2 collaborations
Helen Rankin Willsey 2 collaborations
Rachel K Miller 2 collaborations
John Goss 2 collaborations
Gregory M Rice 2 collaborations
Yoel Gofin 2 collaborations
Amanda Gerard 2 collaborations
Daryl A Scott 2 collaborations
Shuk Ching Chong 2 collaborations
Ayman W El-Hattab 2 collaborations
Marcus J Miller 2 collaborations
Thomas Klopstock 2 collaborations
Costanza Lamperti 2 collaborations
Nicola Longo 2 collaborations
Joshua Manor 2 collaborations
Bridget M Stroup 2 collaborations
William Craigen 2 collaborations
Mohammed Almannai 2 collaborations
Nishita Pillai 1 collaboration
Erin Cooney 1 collaboration
Krupa R Mysore 1 collaboration
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