Claudia Soler-Alfonso

Fernando Scaglia 8 collaborations

Seema R Lalani 5 collaborations

None None 4 collaborations

Sarah H Elsea 3 collaborations

Mustafa Tosur 3 collaborations

Brian J Shayota 3 collaborations

Hongzheng Dai 3 collaborations

Kaitlyn Burns 2 collaborations

Rebecca L Koch 2 collaborations

Bridget T Kiely 2 collaborations

Priya S Kishnani 2 collaborations

Mir Reza Bekheirnia 2 collaborations

Rui Xiao 2 collaborations

Yaping Yang 2 collaborations

Christina Y Miyake 2 collaborations

Erica J Lay 2 collaborations

Taylor S Howard 2 collaborations

Christopher M Janson 2 collaborations

Prince J Kannankeril 2 collaborations

Maina Kava 2 collaborations

Jeffrey J Kim 2 collaborations

Leonardo Liberman 2 collaborations

Tam Dam Pham 2 collaborations

Santiago O Valdes 2 collaborations

Gregory Webster 2 collaborations

Sara B Stephens 2 collaborations

Saad A Ehsan 2 collaborations

Kimberly M Houck 2 collaborations

Kevin E Glinton 2 collaborations

Na Li 2 collaborations

Lilei Zhang 2 collaborations

Blake Vuocolo 2 collaborations

Roberta Sierra 2 collaborations

Christopher Holder 2 collaborations

Lauren Urbanski 2 collaborations

Keila Rodriguez 2 collaborations

Jose David Gamez 2 collaborations

Surya Narayan Mulukutla 2 collaborations

Lori Berry 2 collaborations

Ana Hernandez 2 collaborations

Alberto Allegre 2 collaborations

Humberto Hidalgo 2 collaborations

Sarah Rodriguez 2 collaborations

Sandy Magallan 2 collaborations

Jeremy Gibson 2 collaborations

Juan Carlos Bernini 2 collaborations

Melanie Watson 2 collaborations

Robert Nelson 2 collaborations

Lizbeth Mellin-Sanchez 2 collaborations

Kent Carter 2 collaborations

Brendan Lee 2 collaborations

Chaya N Murali 2 collaborations

Eran Tallis 1 collaboration

Cecile L Karsenty 1 collaboration

Amanda B Grimes 1 collaboration

Lina B Karam 1 collaboration

Vernon Reed Sutton 1 collaboration

Brandy L Rawls-Castillo 1 collaboration

Ning Liu 1 collaboration

Rachel Franciskovich 1 collaboration

Juanita Neira-Fresneda 1 collaboration

James R Lupski 1 collaboration

Bonnie McCann-Crosby 1 collaboration

Lorraine Potocki 1 collaboration

Ross Mangum 1 collaboration

Sherri Birchansky 1 collaboration

Alexandra Stevens 1 collaboration

Lisenka E L M Vissers 1 collaboration

Sreehari Kalvakuri 1 collaboration

Elke de Boer 1 collaboration

Sinje Geuer 1 collaboration

Machteld Oud 1 collaboration

Inge van Outersterp 1 collaboration

Michael Kwint 1 collaboration

Melde Witmond 1 collaboration

Simone Kersten 1 collaboration

Daniel L Polla 1 collaboration

Dilys Weijers 1 collaboration

Amber Begtrup 1 collaboration

Kirsty McWalter 1 collaboration

Anna Ruiz 1 collaboration

Elisabeth Gabau 1 collaboration

Jenny E V Morton 1 collaboration

Christopher Griffith 1 collaboration

Karin Weiss 1 collaboration

Candace Gamble 1 collaboration

James Bartley 1 collaboration

Hilary J Vernon 1 collaboration

Kendra Brunet 1 collaboration

Claudia Ruivenkamp 1 collaboration

Sarina G Kant 1 collaboration

Paul Kruszka 1 collaboration

Austin Larson 1 collaboration

Alexandra Afenjar 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Kimberly Nugent 1 collaboration

F Lucy Raymond 1 collaboration

Hanka Venselaar 1 collaboration

Florence Demurger 1 collaboration

Dong Li 1 collaboration

Elizabeth Bhoj 1 collaboration

Ian Hayes 1 collaboration

Nina Powell Hamilton 1 collaboration

Ayesha Ahmad 1 collaboration

Rachel Fisher 1 collaboration

Myrthe van den Born 1 collaboration

Marjolaine Willems 1 collaboration

Arthur Sorlin 1 collaboration

Julian Delanne 1 collaboration

Sebastien Moutton 1 collaboration

Philippe Christophe 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Antonio Vitobello 1 collaboration

Himanshu Goel 1 collaboration

Lauren Massingham 1 collaboration

Chanika Phornphutkul 1 collaboration

Jennifer Schwab 1 collaboration

Boris Keren 1 collaboration

Perrine Charles 1 collaboration

Maaike Vreeburg 1 collaboration

Lenika De Simone 1 collaboration

George Hoganson 1 collaboration

Maria Iascone 1 collaboration

Donatella Milani 1 collaboration

Lucie Evenepoel 1 collaboration

Nicole Revencu 1 collaboration

D Isum Ward 1 collaboration

Ian Krantz 1 collaboration

Sarah E Raible 1 collaboration

Jill R Murrell 1 collaboration

Kathleen Wood 1 collaboration

Megan T Cho 1 collaboration

Hans van Bokhoven 1 collaboration

Maximilian Muenke 1 collaboration

Tjitske Kleefstra 1 collaboration

Rolf Bodmer 1 collaboration

Arjan P M de Brouwer 1 collaboration

Katie M Chan 1 collaboration

Michael M Khayat 1 collaboration

Shalini N Jhangiani 1 collaboration

Qingchang Meng 1 collaboration

Ahmad Refaey 1 collaboration

Donna Muzny 1 collaboration

Richard A Gibbs 1 collaboration

David R Murdock 1 collaboration

Jennifer E Posey 1 collaboration

Ashok Balasubramanyam 1 collaboration

Maria J Redondo 1 collaboration

Aniko Sabo 1 collaboration

Su Jin Choi 1 collaboration

William R Jeck 1 collaboration

Leticia S Flores 1 collaboration

Vikrant Sood 1 collaboration

Seema Alam 1 collaboration

Gilda Porta 1 collaboration

Katy LaVecchio 1 collaboration

Dianalee McKnight 1 collaboration

Ana Morales 1 collaboration

Kathryn E Hatchell 1 collaboration

Sara L Bristow 1 collaboration

Joshua L Bonkowsky 1 collaboration

Michael Scott Perry 1 collaboration

Anne T Berg 1 collaboration

Felippe Borlot 1 collaboration

Edward D Esplin 1 collaboration

Chad Moretz 1 collaboration

Katie Angione 1 collaboration

Loreto Ríos-Pohl 1 collaboration

Robert L Nussbaum 1 collaboration

Swaroop Aradhya 1 collaboration

Chad R Haldeman-Englert 1 collaboration

Rebecca J Levy 1 collaboration

Venu G Parachuri 1 collaboration

Guillermo Lay-Son 1 collaboration

David J Dávila-Ortiz de Montellano 1 collaboration

Miguel Angel Ramirez-Garcia 1 collaboration

Edmar O Benítez Alonso 1 collaboration

Julie Ziobro 1 collaboration

Adela Chirita-Emandi 1 collaboration

Temis M Felix 1 collaboration

Dianne Kulasa-Luke 1 collaboration

Andre Megarbane 1 collaboration

Shefali Karkare 1 collaboration

Sarah L Chagnon 1 collaboration

Jennifer B Humberson 1 collaboration

Melissa J Assaf 1 collaboration

Sebastian Silva 1 collaboration

Katherine Zarroli 1 collaboration

Oksana Boyarchuk 1 collaboration

Gary R Nelson 1 collaboration

Rachel Palmquist 1 collaboration

Katherine C Hammond 1 collaboration

Sean T Hwang 1 collaboration

Susan B Boutlier 1 collaboration

Melinda Nolan 1 collaboration

Kaitlin Y Batley 1 collaboration

Devraj Chavda 1 collaboration

Carlos Alberto Reyes-Silva 1 collaboration

Oleksandr Miroshnikov 1 collaboration

Britton Zuccarelli 1 collaboration

Louise Amlie-Wolf 1 collaboration

James W Wheless 1 collaboration

Syndi Seinfeld 1 collaboration

Manoj Kanhangad 1 collaboration

Jeremy L Freeman 1 collaboration

Susana Monroy-Santoyo 1 collaboration

Natalia Rodriguez-Vazquez 1 collaboration

Monique M Ryan 1 collaboration

Michelle Machie 1 collaboration

Patricio Guerra 1 collaboration

Muhammad Jawad Hassan 1 collaboration

Meghan S Candee 1 collaboration

Caleb P Bupp 1 collaboration

Kristen L Park 1 collaboration

Eric Muller 1 collaboration

Pamela Lupo 1 collaboration

Robert C Pedersen 1 collaboration

Amir M Arain 1 collaboration

Andrea Murphy 1 collaboration

Krista Schatz 1 collaboration

Weiyi Mu 1 collaboration

Paige M Kalika 1 collaboration

Lautaro Plaza 1 collaboration

Marissa A Kellogg 1 collaboration

Evelyn G Lora 1 collaboration

Robert P Carson 1 collaboration

Victoria Svystilnyk 1 collaboration

Viviana Venegas 1 collaboration

Rebecca R Luke 1 collaboration

Huiyuan Jiang 1 collaboration

Tetiana Stetsenko 1 collaboration

Milagros M Dueñas-Roque 1 collaboration

Joseph Trasmonte 1 collaboration

Rebecca J Burke 1 collaboration

Anna C E Hurst 1 collaboration

Douglas M Smith 1 collaboration

Lauren J Massingham 1 collaboration

Laura Pisani 1 collaboration

Carrie E Costin 1 collaboration

Betsy Ostrander 1 collaboration

Francis M Filloux 1 collaboration

Amitha L Ananth 1 collaboration

Ismail S Mohamed 1 collaboration

Alla Nechai 1 collaboration

Jasmin M Dao 1 collaboration

Michael C Fahey 1 collaboration

Ermal Aliu 1 collaboration

Stephen Falchek 1 collaboration

Craig A Press 1 collaboration

Lauren Treat 1 collaboration

Krista Eschbach 1 collaboration

Angela Starks 1 collaboration

Ryan Kammeyer 1 collaboration

Joshua J Bear 1 collaboration

Mona Jacobson 1 collaboration

Veronika Chernuha 1 collaboration

Bailey Meibos 1 collaboration

Kristen Wong 1 collaboration

Matthew T Sweney 1 collaboration

A Chris Espinoza 1 collaboration

Colin B Van Orman 1 collaboration

Arie Weinstock 1 collaboration

Ashutosh Kumar 1 collaboration

Danielle A Nolan 1 collaboration

Muhammad Raza 1 collaboration

Miguel David Rojas Carrion 1 collaboration

Geetha Chari 1 collaboration

Eric D Marsh 1 collaboration

Yael Shiloh-Malawsky 1 collaboration

Sumit Parikh 1 collaboration

Ernesto Gonzalez-Giraldo 1 collaboration

Stephen Fulton 1 collaboration

Yoshimi Sogawa 1 collaboration

Myroslava Malets 1 collaboration

Johnny David Montiel Blanco 1 collaboration

Christa W Habela 1 collaboration

Carey A Wilson 1 collaboration

Guillermo G Guzmán 1 collaboration

Mariia Pavliuk 1 collaboration

Georg F Vogel 1 collaboration

Yael Mozer-Glassberg 1 collaboration

Yuval E Landau 1 collaboration

Lea D Schlieben 1 collaboration

Holger Prokisch 1 collaboration

René G Feichtinger 1 collaboration

Johannes A Mayr 1 collaboration

Heiko Brennenstuhl 1 collaboration

Julian Schröter 1 collaboration

Agnes Pechlaner 1 collaboration

Fowzan S Alkuraya 1 collaboration

Joshua J Baker 1 collaboration

Giulia Barcia 1 collaboration

Ivo Baric 1 collaboration

Nancy Braverman 1 collaboration

Birute Burnyte 1 collaboration

John Christodoulou 1 collaboration

Elzbieta Ciara 1 collaboration

David Coman 1 collaboration

Anibh M Das 1 collaboration

Niklas Darin 1 collaboration

Adela Della Marina 1 collaboration

Felix Distelmaier 1 collaboration

Erik A Eklund 1 collaboration

Melike Ersoy 1 collaboration

Weiyan Fang 1 collaboration

Pauline Gaignard 1 collaboration

Rebecca D Ganetzky 1 collaboration

Emmanuel Gonzales 1 collaboration

Caoimhe Howard 1 collaboration

Joanne Hughes 1 collaboration

Vassiliki Konstantopoulou 1 collaboration

Melis Kose 1 collaboration

Marina Kerr 1 collaboration

Aneal Khan 1 collaboration

Dominic Lenz 1 collaboration

Robert McFarland 1 collaboration

Merav Gil Margolis 1 collaboration

Kevin Morrison 1 collaboration

Thomas Müller 1 collaboration

Kei Murayama 1 collaboration

Emanuele Nicastro 1 collaboration

Alessandra Pennisi 1 collaboration

Heidi Peters 1 collaboration

Dorota Piekutowska-Abramczuk 1 collaboration

Agnès Rötig 1 collaboration

René Santer 1 collaboration

Manuel Schiff 1 collaboration

Mohmmad Shagrani 1 collaboration

Mark Sharrard 1 collaboration

Christian Staufner 1 collaboration

Imogen Storey 1 collaboration

Michael Stormon 1 collaboration

Robert W Taylor 1 collaboration

David R Thorburn 1 collaboration

Elisa Leao Teles 1 collaboration

Jian-She Wang 1 collaboration

Daniel Weghuber 1 collaboration

Saskia Wortmann 1 collaboration

Nishita Pillai 1 collaboration

Erin Cooney 1 collaboration

Krupa R Mysore 1 collaboration

Suzanne Boyer 1 collaboration

Elizabeth Mizerik 1 collaboration

Suzy W Boyer 1 collaboration

Cheyenne M Beach 1 collaboration

Scott R Ceresnak 1 collaboration

Caridad M Delauz 1 collaboration

Kate Jardine 1 collaboration

Scott L Macicek 1 collaboration

Terry Robertson 1 collaboration

Diana M Milewicz 1 collaboration

Mahshid Azamian 1 collaboration

Weiyi Xu 1 collaboration

Dan Brooks 1 collaboration

Nancy E Moran 1 collaboration

Deane Yim 1 collaboration

Cheyenne Beach 1 collaboration

Samantha Baxter 1 collaboration

Moriel Singer-Berk 1 collaboration

Jordan Wood 1 collaboration

Samuel J Mackenzie 1 collaboration

Michael Sacher 1 collaboration

Lina Ghaloul-Gonzalez 1 collaboration

Claudia Pedroza 1 collaboration

Shaine A Morris 1 collaboration

Mahshid S Azamian 1 collaboration

Daniel Brooks 1 collaboration

Nancy Garcia 1 collaboration

Nishitha R Pillai 1 collaboration

Bridget M Stroup 1 collaboration

Anna Poliner 1 collaboration

Linda Rossetti 1 collaboration

Brandy Rawls 1 collaboration

Hari Priya Tunuguntala 1 collaboration

John Goss 1 collaboration

William Craigen 1 collaboration

V Reid Sutton 1 collaboration

Ryan Wallace Himes 1 collaboration

Lindsay C Burrage 1 collaboration

Jaehyung Lim 1 collaboration

Erica Lay 1 collaboration

Mary Elizabeth M Tessier 1 collaboration

Stephen F Kralik 1 collaboration

Gregory M Rice 1 collaboration

Mohammed Almannai 1 collaboration

Ayman W El-Hattab 1 collaboration

May Ali 1 collaboration

Kathleen M Loomes 1 collaboration

Amit A Shah 1 collaboration

Danielle Monteil 1 collaboration

Carmencita D Padilla 1 collaboration

Rebecca Ganetzky 1 collaboration

Sugi Panneerselvam 1 collaboration

Julia Wang 1 collaboration

Wenmiao Zhu 1 collaboration

John G Pappas 1 collaboration

Rachel Rabin 1 collaboration

Karen J Low 1 collaboration

Jill A Rosenfeld 1 collaboration

Lisa Emrick 1 collaboration

Fan Xia 1 collaboration

Christine M Eng 1 collaboration

Anne Anderson 1 collaboration

Vann Chau 1 collaboration

Haley Streff 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Weimin Bi 1 collaboration

Akihiro Asai 1 collaboration

Ariana L Smith 1 collaboration

Deeksha S Bali 1 collaboration

Peter B Kang 1 collaboration

Andrew P Landstrom 1 collaboration

H Orhan Akman 1 collaboration

T Andrew Burrow 1 collaboration

Jennifer L Orthmann-Murphy 1 collaboration

Deberah S Goldman 1 collaboration

Surekha Pendyal 1 collaboration

Areeg H El-Gharbawy 1 collaboration

Stephanie L Austin 1 collaboration

Laura E Case 1 collaboration

Raphael Schiffmann 1 collaboration

Michio Hirano 1 collaboration

Affiliations

Publications (20)

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Survival and Neurologic Recovery After Prompt Diagnosis and Aggressive Management of Severe Idiopathic Hyperammonemic Encephalopathy in a Patient with Acute Myeloid Leukemia.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

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

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

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

Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.

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

Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas.

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

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

Clinical trials in mitochondrial disorders, an update.

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

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Réseau de co-auteurs