Newell Belnap

Affiliations

theNeurogenomics Division (S.S., J.K., K.R., N.B., C.B., A.L.S., M.R., R.R., M.D.B., A.M.C., M.J.H, V.N., S.R.), Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ; Fulgent Genetics (S.P.S.), Temple City, CA; Department of Neurology (P.B.S.), University of California Los Angeles; David Geffen School of Medicine (P.B.S.), Los Angeles; Department of Pathology and Laboratory Medicine (H.L., S.F.N.), University of California, Los Angeles; Department of Human Genetics (H.L., S.F.N.), David Geffen School of Medicine; Department of Neurology (I.S.), Columbia University, Center for Statistical Genetics, New York; Department of Translational Genomics (D.W.C.), University of Southern California, Los Angeles; Providence Sacred Heart Medical Center and Children's Hospital (S.P.Y.), Spokane, WA; Department of Pathology (S.A.M), University of Iowa, Carver College of Medicine; and Neuromuscular Clinic and Research Center (K.S.), Phoenix, AZ.

Publications (13)

Congenital myasthenic syndrome caused by a frameshift insertion mutation in

Neurology. Genetics

Avec: Szabolcs Szelinger , Jonida Krate , Keri Ramsey , Samuel P Strom , Perry B Shieh , Hane Lee , Newell Belnap , Chris Balak , Ashley L Siniard , Megan Russell , Ryan Richholt , Matt De Both , Ana M Claasen , Isabelle Schrauwen , Stanley F Nelson , Matthew J Huentelman , David W Craig , Samuel P Yang , Steven A Moore , Kumaraswamy Sivakumar , Vinodh Narayanan , Sampathkumar Rangasamy , Auteur inconnu

Gain-of-function variants in the ion channel gene

eLife

Avec: Lydie Burglen , Evelien Van Hoeymissen , Leila Qebibo , Magalie Barth , Newell Belnap , Felix Boschann , Christel Depienne , Katrien De Clercq , Andrew G L Douglas , Mark P Fitzgerald , Nicola Foulds , Catherine Garel , Ingo Helbig , Katharina Held , Denise Horn , Annelies Janssen , Angela M Kaindl , Vinodh Narayanan , Christina Prager , Mailys Rupin-Mas , Alexandra Afenjar , Siyuan Zhao , Vincent Th Ramaekers , Sarah M Ruggiero , Simon Thomas , Stéphanie Valence , Lionel Van Maldergem , Tibor Rohacs , Diana Rodriguez , David Dyment , Thomas Voets , Joris Vriens

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

American journal of human genetics

Avec: F Graeme Frost , Marie Morimoto , Prashant Sharma , Lyse Ruaud , Newell Belnap , Daniel G Calame , Yuri Uchiyama , Naomichi Matsumoto , Machteld M Oud , Elise A Ferreira , Vinodh Narayanan , Sampath Rangasamy , Matt Huentelman , Lisa T Emrick , Ikuko Sato-Shirai , Satoko Kumada , Nicole I Wolf , Peter J Steinbach , Yan Huang , Auteur inconnu , Barbara N Pusey , Sandrine Passemard , Jonathan Levy , Séverine Drunat , Marie Vincent , Agnès Guet , Emanuele Agolini , Antonio Novelli , Maria Cristina Digilio , Jill A Rosenfeld , Jennifer L Murphy , James R Lupski , Gilbert Vezina , Ellen F Macnamara , David R Adams , Maria T Acosta , Cynthia J Tifft , William A Gahl , May Christine V Malicdan

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.

Clinical genetics

Avec: Newell Belnap , Aiai Price-Smith , Keri Ramsey , Kamawela Leka , Anna Abraham , Emma Lieberman , Katie Hassett , Sai Potu , Natasha Rudy , Kirstin Smith , Fady M Mikhail , Kirstin G Monaghan , Andrea Hendershot , Jeroen Mourmans , Maria Descartes , Matthew J Huentelman , Jennifer Sills , Sampath Rangasamy , Vinodh Narayanan

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

Human mutation

Avec: Carmel G McCullough , Szabolcs Szelinger , Newell Belnap , Keri Ramsey , Isabelle Schrauwen , Ana M Claasen , Leah W Burke , Ashley L Siniard , Matthew J Huentelman , Vinodh Narayanan , David W Craig

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

American journal of human genetics

Avec: Chris Balak , Marianne Benard , Elise Schaefer , Sumaiya Iqbal , Keri Ramsey , Michèle Ernoult-Lange , Francesca Mattioli , Lorida Llaci , Véronique Geoffroy , Maité Courel , Marcus Naymik , Kristine K Bachman , Rolph Pfundt , Patrick Rump , Johanna Ter Beest , Ingrid M Wentzensen , Kristin G Monaghan , Kirsty McWalter , Ryan Richholt , Antony Le Béchec , Wayne Jepsen , Matt De Both , Newell Belnap , Anne Boland , Ignazio S Piras , Jean-François Deleuze , Szabolcs Szelinger , Hélène Dollfus , Jamel Chelly , Jean Muller , Arthur Campbell , Dennis Lal , Sampathkumar Rangasamy , Jean-Louis Mandel , Vinodh Narayanan , Matt Huentelman , Dominique Weil , Amélie Piton

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel

Rare : open research in rare diseases

Avec: Megumi Leung , Meredith Sanchez-Castillo , Newell Belnap , Marcus Naymik , Anna Bonfitto , Jennifer Sloan , Katie Hassett , Wayne M Jepsen , Aravind Sankaramoorthy , Tracy Murray Stewart , Jackson R Foley , Sampathkumar Rangasamy , Matthew J Huentelman , Vinodh Narayanan , Keri Ramsey

FGF12 copy number variant associated with epileptic encephalopathy.

Clinical genetics

Avec: Anna Abraham , Keri Ramsey , Newell Belnap , Szabolcs Szelinger , Wayne Jepsen , Chris Balak , Meredith Sanchez-Castillo , Marcus Naymik , Anna Bonfitto , Sampathkumar Rangasamy , Semyon Kruglyak , Matthew Huentelman , Vinodh Narayanan

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.

Cells

Avec: Eric Frankel , Avijit Podder , Megan Sharifi , Roshan Pillai , Newell Belnap , Keri Ramsey , Julius Dodson , Pooja Venugopal , Molly Brzezinski , Lorida Llaci , Brittany Gerald , Gabrielle Mills , Meredith Sanchez-Castillo , Chris D Balak , Szabolcs Szelinger , Wayne M Jepsen , Ashley L Siniard , Ryan Richholt , Marcus Naymik , Isabelle Schrauwen , David W Craig , Ignazio S Piras , Matthew J Huentelman , Nicholas J Schork , Vinodh Narayanan , Sampathkumar Rangasamy

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Human genetics

Avec: Lorida Llaci , Keri Ramsey , Newell Belnap , Ana M Claasen , Chris D Balak , Szabolcs Szelinger , Wayne M Jepsen , Ashley L Siniard , Ryan Richholt , Tyler Izat , Marcus Naymik , Matt De Both , Ignazio S Piras , David W Craig , Matthew J Huentelman , Vinodh Narayanan , Isabelle Schrauwen , Sampathkumar Rangasamy

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Paolo Zanoni , Katharina Steindl , Deepanwita Sengupta , Pascal Joset , Angela Bahr , Heinrich Sticht , Mariarosaria Lang-Muritano , Conny M A van Ravenswaaij-Arts , Marwan Shinawi , Marisa Andrews , Tania Attie-Bitach , Isabelle Maystadt , Newell Belnap , Valerie Benoit , Geoffroy Delplancq , Bert B A de Vries , Sarah Grotto , Didier Lacombe , Austin Larson , Jeroen Mourmans , Katrin Õunap , Giulia Petrilli , Rolph Pfundt , Keri Ramsey , Lot Snijders Blok , Vassilis Tsatsaris , Antonio Vitobello , Laurence Faivre , Patricia G Wheeler , Marijke R Wevers , Monica Wojcik , Markus Zweier , Or Gozani , Anita Rauch

Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Avec: Brianna Pandey , Newell Belnap , Chris Balak , Matt Huentelman , Keri Ramsey , Vinodh Narayanan , James Plotnik

Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

Journal of genetic counseling

Avec: N Belnap , K Ramsey , A Abraham , A Ryan , S Rangasamy , A Bonfitto , M Naymik , M Huentelman , S Strom , D Perry , A Subramaniam , W W Grody , S Szelinger , V Narayanan

Réseau de co-auteurs

Vinodh Narayanan 11 collaborations

Keri Ramsey 10 collaborations

Szabolcs Szelinger 6 collaborations

Matthew J Huentelman 6 collaborations

Sampathkumar Rangasamy 6 collaborations

Marcus Naymik 5 collaborations

Chris Balak 4 collaborations

Ashley L Siniard 4 collaborations

Ryan Richholt 4 collaborations

Isabelle Schrauwen 4 collaborations

David W Craig 4 collaborations

Matt De Both 3 collaborations

Ana M Claasen 3 collaborations

Matt Huentelman 3 collaborations

Lorida Llaci 3 collaborations

Ignazio S Piras 3 collaborations

Meredith Sanchez-Castillo 3 collaborations

Wayne M Jepsen 3 collaborations

None None 2 collaborations

Sampath Rangasamy 2 collaborations

Anna Abraham 2 collaborations

Katie Hassett 2 collaborations

Jeroen Mourmans 2 collaborations

Rolph Pfundt 2 collaborations

Wayne Jepsen 2 collaborations

Anna Bonfitto 2 collaborations

Chris D Balak 2 collaborations

Jonida Krate 1 collaboration

Samuel P Strom 1 collaboration

Perry B Shieh 1 collaboration

Hane Lee 1 collaboration

Megan Russell 1 collaboration

Stanley F Nelson 1 collaboration

Samuel P Yang 1 collaboration

Steven A Moore 1 collaboration

Kumaraswamy Sivakumar 1 collaboration

Lydie Burglen 1 collaboration

Evelien Van Hoeymissen 1 collaboration

Leila Qebibo 1 collaboration

Magalie Barth 1 collaboration

Felix Boschann 1 collaboration

Christel Depienne 1 collaboration

Katrien De Clercq 1 collaboration

Andrew G L Douglas 1 collaboration

Mark P Fitzgerald 1 collaboration

Nicola Foulds 1 collaboration

Catherine Garel 1 collaboration

Ingo Helbig 1 collaboration

Katharina Held 1 collaboration

Denise Horn 1 collaboration

Annelies Janssen 1 collaboration

Angela M Kaindl 1 collaboration

Christina Prager 1 collaboration

Mailys Rupin-Mas 1 collaboration

Alexandra Afenjar 1 collaboration

Siyuan Zhao 1 collaboration

Vincent Th Ramaekers 1 collaboration

Sarah M Ruggiero 1 collaboration

Simon Thomas 1 collaboration

Stéphanie Valence 1 collaboration

Lionel Van Maldergem 1 collaboration

Tibor Rohacs 1 collaboration

Diana Rodriguez 1 collaboration

David Dyment 1 collaboration

Thomas Voets 1 collaboration

Joris Vriens 1 collaboration

F Graeme Frost 1 collaboration

Marie Morimoto 1 collaboration

Prashant Sharma 1 collaboration

Lyse Ruaud 1 collaboration

Daniel G Calame 1 collaboration

Yuri Uchiyama 1 collaboration

Naomichi Matsumoto 1 collaboration

Machteld M Oud 1 collaboration

Elise A Ferreira 1 collaboration

Lisa T Emrick 1 collaboration

Ikuko Sato-Shirai 1 collaboration

Satoko Kumada 1 collaboration

Nicole I Wolf 1 collaboration

Peter J Steinbach 1 collaboration

Yan Huang 1 collaboration

Barbara N Pusey 1 collaboration

Sandrine Passemard 1 collaboration

Jonathan Levy 1 collaboration

Séverine Drunat 1 collaboration

Marie Vincent 1 collaboration

Agnès Guet 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Maria Cristina Digilio 1 collaboration

Jill A Rosenfeld 1 collaboration

Jennifer L Murphy 1 collaboration

James R Lupski 1 collaboration

Gilbert Vezina 1 collaboration

Ellen F Macnamara 1 collaboration

David R Adams 1 collaboration

Maria T Acosta 1 collaboration

Cynthia J Tifft 1 collaboration

William A Gahl 1 collaboration

May Christine V Malicdan 1 collaboration

Aiai Price-Smith 1 collaboration

Kamawela Leka 1 collaboration

Emma Lieberman 1 collaboration

Sai Potu 1 collaboration

Natasha Rudy 1 collaboration

Kirstin Smith 1 collaboration

Fady M Mikhail 1 collaboration

Kirstin G Monaghan 1 collaboration

Andrea Hendershot 1 collaboration

Maria Descartes 1 collaboration

Jennifer Sills 1 collaboration

Carmel G McCullough 1 collaboration

Leah W Burke 1 collaboration

Marianne Benard 1 collaboration

Elise Schaefer 1 collaboration

Sumaiya Iqbal 1 collaboration

Michèle Ernoult-Lange 1 collaboration

Francesca Mattioli 1 collaboration

Véronique Geoffroy 1 collaboration

Maité Courel 1 collaboration

Kristine K Bachman 1 collaboration

Patrick Rump 1 collaboration

Johanna Ter Beest 1 collaboration

Ingrid M Wentzensen 1 collaboration

Kristin G Monaghan 1 collaboration

Kirsty McWalter 1 collaboration

Antony Le Béchec 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Hélène Dollfus 1 collaboration

Jamel Chelly 1 collaboration

Jean Muller 1 collaboration

Arthur Campbell 1 collaboration

Dennis Lal 1 collaboration

Jean-Louis Mandel 1 collaboration

Dominique Weil 1 collaboration

Amélie Piton 1 collaboration

Megumi Leung 1 collaboration

Jennifer Sloan 1 collaboration

Aravind Sankaramoorthy 1 collaboration

Tracy Murray Stewart 1 collaboration

Jackson R Foley 1 collaboration

Semyon Kruglyak 1 collaboration

Matthew Huentelman 1 collaboration

Eric Frankel 1 collaboration

Avijit Podder 1 collaboration

Megan Sharifi 1 collaboration

Roshan Pillai 1 collaboration

Julius Dodson 1 collaboration

Pooja Venugopal 1 collaboration

Molly Brzezinski 1 collaboration

Brittany Gerald 1 collaboration

Gabrielle Mills 1 collaboration

Nicholas J Schork 1 collaboration

Tyler Izat 1 collaboration

Paolo Zanoni 1 collaboration

Katharina Steindl 1 collaboration

Deepanwita Sengupta 1 collaboration

Pascal Joset 1 collaboration

Angela Bahr 1 collaboration

Heinrich Sticht 1 collaboration

Mariarosaria Lang-Muritano 1 collaboration

Conny M A van Ravenswaaij-Arts 1 collaboration

Marwan Shinawi 1 collaboration

Marisa Andrews 1 collaboration

Tania Attie-Bitach 1 collaboration

Isabelle Maystadt 1 collaboration

Valerie Benoit 1 collaboration

Geoffroy Delplancq 1 collaboration

Bert B A de Vries 1 collaboration

Sarah Grotto 1 collaboration

Didier Lacombe 1 collaboration

Austin Larson 1 collaboration

Katrin Õunap 1 collaboration

Giulia Petrilli 1 collaboration

Lot Snijders Blok 1 collaboration

Vassilis Tsatsaris 1 collaboration

Antonio Vitobello 1 collaboration

Laurence Faivre 1 collaboration

Patricia G Wheeler 1 collaboration

Marijke R Wevers 1 collaboration

Monica Wojcik 1 collaboration

Markus Zweier 1 collaboration

Or Gozani 1 collaboration

Anita Rauch 1 collaboration

Brianna Pandey 1 collaboration

James Plotnik 1 collaboration

N Belnap 1 collaboration

K Ramsey 1 collaboration

A Abraham 1 collaboration

A Ryan 1 collaboration

S Rangasamy 1 collaboration

A Bonfitto 1 collaboration

M Naymik 1 collaboration

M Huentelman 1 collaboration

S Strom 1 collaboration

D Perry 1 collaboration

A Subramaniam 1 collaboration

W W Grody 1 collaboration

S Szelinger 1 collaboration

V Narayanan 1 collaboration