Lindsay C Burrage

None None 16 collaborations

Jill A Rosenfeld 13 collaborations

Brendan Lee 6 collaborations

David R Murdock 5 collaborations

Hongzheng Dai 5 collaborations

Sandesh C S Nagamani 4 collaborations

Pengfei Liu 4 collaborations

Sarah H Elsea 4 collaborations

Bridget M Stroup 4 collaborations

Carlos A Bacino 3 collaborations

Saima Ali 3 collaborations

Shamika Ketkar 3 collaborations

Hsiao-Tuan Chao 3 collaborations

Michael F Wangler 3 collaborations

Seema R Lalani 3 collaborations

Brendan H Lee 3 collaborations

Hugo J Bellen 3 collaborations

Lisa Emrick 3 collaborations

Isabelle Thiffault 3 collaborations

Qin Sun 3 collaborations

William Craigen 3 collaborations

Fernando Scaglia 3 collaborations

Ming-Ming Jiang 3 collaborations

Nishitha R Pillai 2 collaborations

Dana Marafi 2 collaborations

Mahim Jain 2 collaborations

Marcus J Miller 2 collaborations

Aleksandar Milosavljevic 2 collaborations

Bo Yuan 2 collaborations

Richard A Gibbs 2 collaborations

James R Lupski 2 collaborations

Tiphanie P Vogel 2 collaborations

Richard A Lewis 2 collaborations

James B Gibson 2 collaborations

Shinya Yamamoto 2 collaborations

Rebecca O Littlejohn 2 collaborations

Laurie H Seaver 2 collaborations

Konrad Platzer 2 collaborations

Jorge L Granadillo 2 collaborations

Theresa Brunet 2 collaborations

Jonathan A Bernstein 2 collaborations

Ed Blair 2 collaborations

Casie A Genetti 2 collaborations

Chloe M Reuter 2 collaborations

Matthew T Wheeler 2 collaborations

V Reid Sutton 2 collaborations

Brett Graham 2 collaborations

Ronit Marom 2 collaborations

Xiaohui Li 2 collaborations

Zixue Jin 2 collaborations

Charles G Minard 2 collaborations

Dongxue Mao 2 collaborations

Lisa T Emrick 2 collaborations

Klaus Schmitz-Abe 2 collaborations

Brian Dawson 2 collaborations

Yuqing Chen 2 collaborations

Uta Lichter-Konecki 2 collaborations

Carlos Bacino 2 collaborations

Christine M Eng 2 collaborations

Fan Xia 2 collaborations

Daryl A Scott 2 collaborations

Seema Lalani 2 collaborations

Ping Yee Billie Au 2 collaborations

Fowzan S Alkuraya 2 collaborations

Sonia A Monteiro 1 collaboration

Mered Parnes 1 collaboration

Binoy Mathew Chandy 1 collaboration

Ankita Patel 1 collaboration

Amy M Breman 1 collaboration

Runjun D Kumar 1 collaboration

Jan Bartos 1 collaboration

Eric Schmitt 1 collaboration

Cynthia LeMons 1 collaboration

Michaela F Müller 1 collaboration

Vicente A Yépez 1 collaboration

Julien Gagneur 1 collaboration

Shan Chen 1 collaboration

Gladys Zapata 1 collaboration

Paolo Moretti 1 collaboration

William J Craigen 1 collaboration

Neil A Hanchard 1 collaboration

Lillian R Thistlethwaite 1 collaboration

Xiqi Li 1 collaboration

Kevin Riehle 1 collaboration

Joseph G Hacia 1 collaboration

Nancy Braverman 1 collaboration

Josefina Longeri Contreras 1 collaboration

Mabel A Ladino 1 collaboration

Katherine Aránguiz 1 collaboration

Gonzalo P Mendez 1 collaboration

Zeynep Coban-Akdemir 1 collaboration

Ivan K Chinn 1 collaboration

Jordan S Orange 1 collaboration

M Cecilia Poli 1 collaboration

Christina L Magyar 1 collaboration

Yuezhen Lin 1 collaboration

Marcela F Astudillo 1 collaboration

Alyssa A Tran 1 collaboration

Mengqi Ma 1 collaboration

Yiming Zheng 1 collaboration

Shenzhao Lu 1 collaboration

Xueyang Pan 1 collaboration

Kim C Worley 1 collaboration

Lauren S Blieden 1 collaboration

Aimee Allworth 1 collaboration

Wei-Liang Chen 1 collaboration

Giuseppe Merla 1 collaboration

Barbara Mandriani 1 collaboration

David Li-Kroeger 1 collaboration

Debdeep Dutta 1 collaboration

Ian A Glass 1 collaboration

Sam Strohbehn 1 collaboration

Elizabeth Blue 1 collaboration

Paolo Prontera 1 collaboration

Maria Carla Borroto 1 collaboration

Heena Patel 1 collaboration

Siddharth Srivastava 1 collaboration

Lindsay C Swanson 1 collaboration

Boris Keren 1 collaboration

Sandra Whalen 1 collaboration

Cyril Mignot 1 collaboration

Xiaodong Wang 1 collaboration

Qian Chen 1 collaboration

Scott McLean 1 collaboration

Ruben Attali 1 collaboration

Gaetan Lesca 1 collaboration

Cecile Acquaviva-Bourdain 1 collaboration

Catherine Sarret 1 collaboration

Tobias Bartolomaeus 1 collaboration

Cornelia Wünsch 1 collaboration

Susann Fischer 1 collaboration

Ana Maria Rodriguez Barreto 1 collaboration

Elisabeth Schreiner 1 collaboration

Ulrich A Schatz 1 collaboration

Sureni V Mullegama 1 collaboration

Jacques L Michaud 1 collaboration

Fadi F Hamdan 1 collaboration

Elsa Rossignol 1 collaboration

Philippe M Campeau 1 collaboration

Yuyang Chen 1 collaboration

Ruebena Dawes 1 collaboration

Hyung Chul Kim 1 collaboration

Alicia Ljungdahl 1 collaboration

Sarah L Stenton 1 collaboration

Susan Walker 1 collaboration

Jenny Lord 1 collaboration

Gabrielle Lemire 1 collaboration

Alexandra C Martin-Geary 1 collaboration

Vijay S Ganesh 1 collaboration

Jialan Ma 1 collaboration

Jamie M Ellingford 1 collaboration

Erwan Delage 1 collaboration

Elston N D'Souza 1 collaboration

Shan Dong 1 collaboration

David R Adams 1 collaboration

Kirsten Allan 1 collaboration

Madhura Bakshi 1 collaboration

Erin E Baldwin 1 collaboration

Seth I Berger 1 collaboration

Ishita Bhatnagar 1 collaboration

Natasha J Brown 1 collaboration

Kimberly Chapman 1 collaboration

David J Coman 1 collaboration

Alison G Compton 1 collaboration

Chloe A Cunningham 1 collaboration

Precilla D'Souza 1 collaboration

Petr Danecek 1 collaboration

Emmanuèle C Délot 1 collaboration

Kerith-Rae Dias 1 collaboration

Ellen R Elias 1 collaboration

Frances Elmslie 1 collaboration

Care-Anne Evans 1 collaboration

Lisa Ewans 1 collaboration

Kimberly Ezell 1 collaboration

Jamie L Fraser 1 collaboration

Lyndon Gallacher 1 collaboration

Anne Goriely 1 collaboration

Christina L Grant 1 collaboration

Tobias Haack 1 collaboration

Jenny E Higgs 1 collaboration

Anjali G Hinch 1 collaboration

Matthew E Hurles 1 collaboration

Alma Kuechler 1 collaboration

Katherine L Lachlan 1 collaboration

François Lecoquierre 1 collaboration

Elsa Leitão 1 collaboration

Anna Le Fevre 1 collaboration

Richard J Leventer 1 collaboration

Jan E Liebelt 1 collaboration

Sarah Lindsay 1 collaboration

Paul J Lockhart 1 collaboration

Alan S Ma 1 collaboration

Ellen F Macnamara 1 collaboration

Sahar Mansour 1 collaboration

Taylor M Maurer 1 collaboration

Hector R Mendez 1 collaboration

Kay Metcalfe 1 collaboration

Stephen B Montgomery 1 collaboration

Mariya Moosajee 1 collaboration

Marie-Cécile Nassogne 1 collaboration

Serena Neumann 1 collaboration

Michael O'Donoghue 1 collaboration

Melanie O'Leary 1 collaboration

Elizabeth E Palmer 1 collaboration

Nikhil Pattani 1 collaboration

John Phillips 1 collaboration

Georgia Pitsava 1 collaboration

Ryan Pysar 1 collaboration

Heidi L Rehm 1 collaboration

Nicole Revencu 1 collaboration

Angelika Riess 1 collaboration

Rocio Rius 1 collaboration

Lance Rodan 1 collaboration

Tony Roscioli 1 collaboration

Rani Sachdev 1 collaboration

Charles J Shaw-Smith 1 collaboration

Cas Simons 1 collaboration

Sanjay M Sisodiya 1 collaboration

Penny Snell 1 collaboration

Laura St Clair 1 collaboration

Zornitza Stark 1 collaboration

Helen S Stewart 1 collaboration

Tiong Yang Tan 1 collaboration

Natalie B Tan 1 collaboration

Suzanna E L Temple 1 collaboration

David R Thorburn 1 collaboration

Cynthia J Tifft 1 collaboration

Eloise Uebergang 1 collaboration

Grace E VanNoy 1 collaboration

Pradeep Vasudevan 1 collaboration

Eric Vilain 1 collaboration

David H Viskochil 1 collaboration

Laura Wedd 1 collaboration

Susan M White 1 collaboration

Monica Wojcik 1 collaboration

Lynne A Wolfe 1 collaboration

Zoe Wolfenson 1 collaboration

Caroline F Wright 1 collaboration

Changrui Xiao 1 collaboration

David Zocche 1 collaboration

John L Rubenstein 1 collaboration

Eirene Markenscoff-Papadimitriou 1 collaboration

Sebastian M Fica 1 collaboration

Diana Baralle 1 collaboration

Christel Depienne 1 collaboration

Daniel G MacArthur 1 collaboration

Joanna M M Howson 1 collaboration

Stephan J Sanders 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Nicola Whiffin 1 collaboration

Lillian Thistlethwaite 1 collaboration

Adam D Kennedy 1 collaboration

Anna Poliner 1 collaboration

Linda Rossetti 1 collaboration

Brandy Rawls 1 collaboration

Brian J Shayota 1 collaboration

Claudia Soler-Alfonso 1 collaboration

Hari Priya Tunuguntala 1 collaboration

John Goss 1 collaboration

Ryan Wallace Himes 1 collaboration

Austin A Larson 1 collaboration

Shanti Balasubramaniam 1 collaboration

John Christodoulou 1 collaboration

Brett H Graham 1 collaboration

George A Diaz 1 collaboration

Emma Glamuzina 1 collaboration

Natalie Hauser 1 collaboration

Bryce Heese 1 collaboration

Gabriella Horvath 1 collaboration

Andre Mattman 1 collaboration

Clara van Karnebeek 1 collaboration

S Lane Rutledge 1 collaboration

Amy Williamson 1 collaboration

Lissette Estrella 1 collaboration

Johan K L Van Hove 1 collaboration

James D Weisfeld-Adams 1 collaboration

Simran Madan 1 collaboration

Mahmoud Mohammad 1 collaboration

Racel Cela 1 collaboration

Terry Bertin 1 collaboration

Jian Dai 1 collaboration

Danielle Guffey 1 collaboration

Milton Finegold 1 collaboration

Sandesh Nagamani 1 collaboration

Juan Marini 1 collaboration

Prakash Masand 1 collaboration

Deborah Schady 1 collaboration

Benjamin L Shneider 1 collaboration

Daniel H Leung 1 collaboration

Deeksha Bali 1 collaboration

Maura R Z Ruzhnikov 1 collaboration

Anita E Beck 1 collaboration

Emily G Farrow 1 collaboration

Katherine M Mackenzie 1 collaboration

Laurie Robak 1 collaboration

Daniel Calame 1 collaboration

Sébastien Küry 1 collaboration

Martin Sillesen 1 collaboration

Davide Tonduti 1 collaboration

Luigina Spaccini 1 collaboration

Maria Iascone 1 collaboration

Mary K Koenig 1 collaboration

Madeline Graf 1 collaboration

Alyssa Tran 1 collaboration

Mercedes Alejandro 1 collaboration

Pankaj B Agrawal 1 collaboration

Jordan Kho 1 collaboration

Monica Grover 1 collaboration

Donna J Palmer 1 collaboration

Dustin L Turner 1 collaboration

Philip Ng 1 collaboration

Sandesh Cs Nagamani 1 collaboration

Elizabeth G Ames 1 collaboration

Corey Powell 1 collaboration

Rachel M Engen 1 collaboration

Donald J Weaver 1 collaboration

Asif Mansuri 1 collaboration

Michelle N Rheault 1 collaboration

Keia Sanderson 1 collaboration

Ankana Daga 1 collaboration

Ayesha Ahmad 1 collaboration

Scott E Wenderfer 1 collaboration

Kera E Luckritz 1 collaboration

Jeffrey S Heinle 1 collaboration

Robert H Cerfolio 1 collaboration

Robert P Guillerman 1 collaboration

Kalyani R Patel 1 collaboration

Nahir C Santiago 1 collaboration

Wynton C Hoover 1 collaboration

George B Mallory 1 collaboration

Lauren C Burrage 1 collaboration

Donald S A McLeod 1 collaboration

Susan J Jordan 1 collaboration

Kevin E Glinton 1 collaboration

Ning Liu 1 collaboration

Scott K Ward 1 collaboration

Alexandrea Wadley 1 collaboration

Chun-Hui Anne Tsai 1 collaboration

Paul J Benke 1 collaboration

Kristen Fisher 1 collaboration

Kimberly M Houck 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Kimberly Glaser 1 collaboration

Luis Rohena 1 collaboration

Karin E M Diderich 1 collaboration

Hennie T Bruggenwirth 1 collaboration

Chaozhong Liu 1 collaboration

Linhua Wang 1 collaboration

Rami Ai-Ouran 1 collaboration

Cole Deisseroth 1 collaboration

Sasidhar Pasupuleti 1 collaboration

Seon Young Kim 1 collaboration

Lucian Li 1 collaboration

Linyan Meng 1 collaboration

Michael Santana 1 collaboration

Victor Perez 1 collaboration

Priyank Shukla 1 collaboration

Zhandong Liu 1 collaboration

Joseph M Sliepka 1 collaboration

Sarah C McGriff 1 collaboration

Linda Z Rossetti 1 collaboration

Peyman Bizargity 1 collaboration

Haley Streff 1 collaboration

Yi-Shan Lee 1 collaboration

Satyamaanasa Polubothu 1 collaboration

Grace Lee 1 collaboration

Vicky Ren 1 collaboration

Jill V Hunter 1 collaboration

Daniel J Curry 1 collaboration

Adekunle M Adesina 1 collaboration

Irfan Ali 1 collaboration

Veronica Kinsler 1 collaboration

Chih-Wei Hsu 1 collaboration

Cheng-Yen Chang 1 collaboration

Luan D Truong 1 collaboration

Ingo Grafe 1 collaboration

Denise Lanza 1 collaboration

Jennie Rose Green 1 collaboration

J P Barrish 1 collaboration

Safa Ani 1 collaboration

Audrey E Christiansen 1 collaboration

John R Seavitt 1 collaboration

Mary E Dickinson 1 collaboration

Farrah Kheradmand 1 collaboration

Jason D Heaney 1 collaboration

Francesco Vetrini 1 collaboration

Shane McKee 1 collaboration

Mohnish Suri 1 collaboration

Andrea M Lewis 1 collaboration

Kimberly Margaret Nugent 1 collaboration

Elizabeth Roeder 1 collaboration

Sue Holder 1 collaboration

Wenmiao Zhu 1 collaboration

Joseph T Alaimo 1 collaboration

Jill M Harris 1 collaboration

Matthew Pastore 1 collaboration

Kim L McBride 1 collaboration

Makanko Komara 1 collaboration

Lihadh Al-Gazali 1 collaboration

Aisha Al Shamsi 1 collaboration

Elizabeth A Fanning 1 collaboration

Klaas J Wierenga 1 collaboration

Ziva Ben-Neriah 1 collaboration

Vardiella Meiner 1 collaboration

Hanoch Cassuto 1 collaboration

Orly Elpeleg 1 collaboration

J Lloyd Holder 1 collaboration

Lionel Van Maldergem 1 collaboration

Sonal Mahida 1 collaboration

Janet S Soul 1 collaboration

Margaret Marlatt 1 collaboration

Ludmila Matyakhina 1 collaboration

Julie Vogt 1 collaboration

June-Anne Gold 1 collaboration

Soo-Mi Park 1 collaboration

Vinod Varghese 1 collaboration

Anne K Lampe 1 collaboration

Ajith Kumar 1 collaboration

Melissa Lees 1 collaboration

Muriel Holder-Espinasse 1 collaboration

Vivienne McConnell 1 collaboration

Birgitta Bernhard 1 collaboration

Victoria Harrison 1 collaboration

Donna M Muzny 1 collaboration

Jennifer E Posey 1 collaboration

Weimin Bi 1 collaboration

Yaping Yang 1 collaboration

Lance H Rodan 1 collaboration

Rebecca C Spillmann 1 collaboration

Harley T Kurata 1 collaboration

Shawn M Lamothe 1 collaboration

Jasmine Maghera 1 collaboration

Rami Abou Jamra 1 collaboration

Anna Alkelai 1 collaboration

Stylianos E Antonarakis 1 collaboration

Isis Atallah 1 collaboration

Omer Bar-Yosef 1 collaboration

Frédéric Bilan 1 collaboration

Kathrine Bjorgo 1 collaboration

Xavier Blanc 1 collaboration

Patrick Van Bogaert 1 collaboration

Yoav Bolkier 1 collaboration

Björn U Christ 1 collaboration

Patricia Dickson 1 collaboration

Kirsten A Donald 1 collaboration

Christèle Dubourg 1 collaboration

Aviva Eliyahu 1 collaboration

Kendra Engleman 1 collaboration

Michaela Veronika Gonfiantini 1 collaboration

Jean-Marc Good 1 collaboration

Judith Kalser 1 collaboration

Chiara Kloeckner 1 collaboration

Guus Lachmeijer 1 collaboration

Marina Macchiaiolo 1 collaboration

Francesco Nicita 1 collaboration

Sylvie Odent 1 collaboration

Emily O'Heir 1 collaboration

Xilma Ortiz-Gonzalez 1 collaboration

Marta Pacio-Miguez 1 collaboration

María Palomares-Bralo 1 collaboration

Loren Pena 1 collaboration

Mathieu Quinodoz 1 collaboration

Emmanuelle Ranza 1 collaboration

Eliane Roulet-Perez 1 collaboration

Avni Santani 1 collaboration

Fernando Santos-Simarro 1 collaboration

Ben Pode-Shakked 1 collaboration

Cara Skraban 1 collaboration

Rachel Slaugh 1 collaboration

Andrea Superti-Furga 1 collaboration

Richard H van Jaabrsveld 1 collaboration

Marie Vincent 1 collaboration

Hong-Gang Wang 1 collaboration

Pia Zacher 1 collaboration

Eric Rush 1 collaboration

Geoffrey S Pitt 1 collaboration

Vandana Shashi 1 collaboration

Chaya N Murali 1 collaboration

John R Barber 1 collaboration

Robert McCarter 1 collaboration

Anqing Zhang 1 collaboration

Natalie Gallant 1 collaboration

Kara Simpson 1 collaboration

Naghmeh Dorrani 1 collaboration

Greta N Wilkening 1 collaboration

Ron D Hays 1 collaboration

Lama AlAbdi 1 collaboration

Muriel Desbois 1 collaboration

Domniţa-Valeria Rusnac 1 collaboration

Raashda A Sulaiman 1 collaboration

Shelley Towner 1 collaboration

William G Wilson 1 collaboration

Lawrence Wong 1 collaboration

Gertrud Strobl-Wildemann 1 collaboration

Jennifer E Burton 1 collaboration

George Hoganson 1 collaboration

Kirsty McWalter 1 collaboration

Amber Begtrup 1 collaboration

Yuri A Zarate 1 collaboration

Elyse L Christensen 1 collaboration

Karla J Opperman 1 collaboration

Andrew C Giles 1 collaboration

Rana Helaby 1 collaboration

Artur Kania 1 collaboration

Ning Zheng 1 collaboration

Brock Grill 1 collaboration

Shyam K Akula 1 collaboration

Jack H Marciano 1 collaboration

Youngshin Lim 1 collaboration

David Exposito-Alonso 1 collaboration

Norma K Hylton 1 collaboration

Grace H Hwang 1 collaboration

Jennifer E Neil 1 collaboration

Nicole Dominado 1 collaboration

Rosie K Bunton-Stasyshyn 1 collaboration

Janet H T Song 1 collaboration

Maya Talukdar 1 collaboration

Aloisia Schmid 1 collaboration

Lydia Teboul 1 collaboration

Alisa Mo 1 collaboration

Taehwan Shin 1 collaboration

Benjamin Finander 1 collaboration

Samantha G Beck 1 collaboration

Rebecca C Yeh 1 collaboration

Aoi Otani 1 collaboration

Xuyu Qian 1 collaboration

Ellen M DeGennaro 1 collaboration

Sateesh Maddirevula 1 collaboration

Gregory D Cascino 1 collaboration

Caterina Giannini 1 collaboration

Jill A Rosenfield 1 collaboration

Gary D Clark 1 collaboration

Rosalind A Segal 1 collaboration

J Fernando Bazan 1 collaboration

Kelly A Smith 1 collaboration

Jeffrey A Golden 1 collaboration

Ginam Cho 1 collaboration

Christopher A Walsh 1 collaboration

Emily R Waskow 1 collaboration

Vivien Béziat 1 collaboration

Simon J Tavernier 1 collaboration

Yin-Huai Chen 1 collaboration

Cindy S Ma 1 collaboration

Marie Materna 1 collaboration

Arian Laurence 1 collaboration

Jens Staal 1 collaboration

Dominik Aschenbrenner 1 collaboration

Lisa Roels 1 collaboration

Lisa Worley 1 collaboration

Kathleen Claes 1 collaboration

Lisa Gartner 1 collaboration

Lisa A Kohn 1 collaboration

Marieke De Bruyne 1 collaboration

Louis-Marie Charbonnier 1 collaboration

Sevgi Keles 1 collaboration

Justine Nammour 1 collaboration

Natasha Vladikine 1 collaboration

Majistor Raj Luxman Maglorius Renkilaraj 1 collaboration

Yoann Seeleuthner 1 collaboration

Mélanie Migaud 1 collaboration

Jérémie Rosain 1 collaboration

Mohamed Jeljeli 1 collaboration

Bertrand Boisson 1 collaboration

Eva Van Braeckel 1 collaboration

Bart N Lambrecht 1 collaboration

Véronique Avettand-Fenoel 1 collaboration

Charles R Esther 1 collaboration

Sule Haskologlu 1 collaboration

Figen Dogu 1 collaboration

Peter Ciznar 1 collaboration

David Boutboul 1 collaboration

Marie Ouachée-Chardin 1 collaboration

Jean Amourette 1 collaboration

Marie-Noëlle Lebras 1 collaboration

Clément Gauvain 1 collaboration

Colas Tcherakian 1 collaboration

Aydan Ikinciogullari 1 collaboration

Rudi Beyaert 1 collaboration

Laurent Abel 1 collaboration

Joshua D Milner 1 collaboration

Bodo Grimbacher 1 collaboration

Louis-Jean Couderc 1 collaboration

Manish J Butte 1 collaboration

Alexandra F Freeman 1 collaboration

Émilie Catherinot 1 collaboration

Claire Fieschi 1 collaboration

Talal A Chatila 1 collaboration

Stuart G Tangye 1 collaboration

Holm H Uhlig 1 collaboration

Filomeen Haerynck 1 collaboration

Jean-Laurent Casanova 1 collaboration

Anne Puel 1 collaboration

Affiliations

Publications (30)

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

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

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

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation.

Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.

Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.

Obesity and thyroid cancer risk.

Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn.

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.

A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Réseau de co-auteurs