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Search Results - Lippa, Natalie C.
Search Results - Lippa, Natalie C.
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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
by
Lippa, Natalie C
,
Barua, Subit
,
Aggarwal, Vimla
,
Pereira, Elaine
,
Bain, Jennifer M
Published in
BMC neurology
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Clinical utility of exome sequencing in a pediatric epilepsy cohort
by
Graifman, Jordana L.
,
Lippa, Natalie C.
,
Mulhern, Maureen S.
,
Bergner, Amanda L.
,
Sands, Tristan T.
Published in
Epilepsia (Copenhagen)
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Impact of Information About Obesity Genomics on the Stigmatization of Overweight Individuals: An Experimental Study
by
Lippa, Natalie C.
,
Sanderson, Saskia C.
Published in
Obesity (Silver Spring, Md.)
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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
by
Myers, Candace T.
,
Stong, Nicholas
,
Mountier, Emily I.
,
Helbig, Katherine L.
,
Freytag, Saskia
,
Sullivan, Joseph E.
,
Ben Zeev, Bruria
,
Nissenkorn, Andreea
,
Tzadok, Michal
,
Heimer, Gali
,
Shinde, Deepali N.
,
Rezazadeh, Arezoo
,
Regan, Brigid M.
,
Oliver, Karen L.
,
Ernst, Michelle E.
,
Lippa, Natalie C.
,
Mulhern, Maureen S.
,
Ren, Zhong
,
Poduri, Annapurna
,
Andrade, Danielle M.
,
Bird, Lynne M.
,
Bahlo, Melanie
,
Berkovic, Samuel F.
,
Lowenstein, Daniel H.
,
Scheffer, Ingrid E.
,
Sadleir, Lynette G.
,
Goldstein, David B.
,
Mefford, Heather C.
,
Heinzen, Erin L.
Published in
American journal of human genetics
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
by
Kushary, Sulagna Tina
,
Revah‐Politi, Anya
,
Barua, Subit
,
Ganapathi, Mythily
,
Accogli, Andrea
,
Aggarwal, Vimla
,
Brunetti‐Pierri, Nicola
,
Cappuccio, Gerarda
,
Capra, Valeria
,
Fagerberg, Christina R.
,
Gazdagh, Gabriella
,
Guzman, Edwin
,
Hadonou, Medard
,
Harrison, Victoria
,
Havelund, Kathrine
,
Iancu, Daniela
,
Kraus, Alison
,
Lippa, Natalie C.
,
Mansukhani, Mahesh
,
McBrian, Danielle
,
McEntagart, Meriel
,
Pacio‐Míguez, Marta
,
Palomares‐Bralo, María
,
Pottinger, Carrie
,
Ruivenkamp, Claudia A. L.
,
Sacco, Oliviero
,
Santen, Gijs W. E.
,
Santos‐Simarro, Fernando
,
Scala, Marcello
,
Short, John
,
Sørensen, Kristina P.
,
Woods, Christopher G.
,
Anyane Yeboa, Kwame
Published in
American journal of medical genetics. Part A
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Risk Variants in the Exomes of Children With Critical Illness
by
Motelow, Joshua E.
,
Lippa, Natalie C.
,
Hostyk, Joseph
,
Feldman, Evin
,
Nelligan, Matthew
,
Ren, Zhong
,
Alkelai, Anna
,
Milner, Joshua D.
,
Gharavi, Ali G.
,
Tang, Yingying
,
Goldstein, David B.
,
Kernie, Steven G.
Published in
JAMA network open
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Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study
by
Lippa, Natalie C.
,
Sanderson, Saskia C.
Published in
Human heredity
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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
by
Berkovic, Samuel F.
,
Goldstein, David B.
,
Heinzen, Erin L.
,
Laughlin, Brandon L.
,
Lowenstein, Daniel H.
,
Lubbers, Laura
,
Stewart, Randall
,
Whittemore, Vicky
,
Angione, Kaitlin
,
Bazil, Carl W.
,
Bier, Louise
,
Bluvstein, Judith
,
Brimble, Elise
,
Campbell, Colleen
,
Cavalleri, Gianpiero
,
Chambers, Chelsea
,
Choi, Hyunmi
,
Cilio, Maria Roberta
,
Ciliberto, Michael
,
Cornes, Susannah
,
Delanty, Norman
,
Demarest, Scott
,
Devinsky, Orrin
,
Dlugos, Dennis
,
Dubbs, Holly
,
Dugan, Patricia
,
Ernst, Michelle E.
,
Gibbons, Melissa
,
Goodkin, Howard P.
,
Helbig, Ingo
,
Jansen, Laura
,
Johnson, Kaleas
,
Joshi, Charuta
,
Lippa, Natalie C.
,
Marsh, Eric
,
Martinez, Alejandro
,
Millichap, John
,
Mulhern, Maureen S.
,
Numis, Adam
,
Park, Kristen
,
Pippucci, Tommaso
,
Poduri, Annapurna
,
Porter, Brenda
,
Regan, Brigid
,
Sands, Tristan T.
,
Scheffer, Ingrid E.
,
Schreiber, John M.
,
Sheidley, Beth
,
Singhal, Nilika
,
Smith, Lacey
,
Sullivan, Joseph
,
Taylor, Alan
,
Tolete, Patricia
,
Afgani, Tahseen M.
,
Aggarwal, Vimla
,
Burgess, Rosemary
,
Dixon‐Salazar, Tracy
,
Hemati, Parisa
,
Milder, Julie
,
Petrovski, Slavé
,
Revah‐Politi, Anya
,
Stong, Nicholas
Published in
Epilepsia (Copenhagen)
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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
by
Verberne, Eline A
,
Goh, Shuxiang
,
England, Jade
,
van Ginkel, Manon
,
Rafael-Croes, Louise
,
Maas, Saskia
,
Polstra, Abeltje
,
Zarate, Yuri A
,
Bosanko, Katherine A
,
Pechter, Kieran B
,
Bedoukian, Emma
,
Izumi, Kosuke
,
Chaudhry, Ayeshah
,
Robin, Nathaniel H
,
Boothe, Megan
,
Lippa, Natalie C
,
Aggarwal, Vimla
,
De Vivo, Darryl C
,
Lehman, Anna
,
Study, Causes
,
Stockler, Sylvia
,
Bruel, Ange-Line
,
Isidor, Bertrand
,
Lemons, Jennifer
,
Rodriguez-Buritica, David F
,
Richmond, Christopher M
,
Stark, Zornitza
,
Agrawal, Pankaj B
,
Kooy, R Frank
,
Meuwissen, Marije E C
,
Koolen, David A
,
Pfundt, Rolf
,
Lieden, Agne
,
Anderlid, Britt-Marie
,
Glatz, Dagmar
,
Mannens, Marcel M A M
,
Bakshi, Madhura
,
Mallette, Frédérick A
,
van Haelst, Mieke M
,
Campeau, Philippe M
Published in
Genetics in medicine
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De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Published in
Genetics in medicine
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A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate
by
Miceli, Francesco
,
Carotenuto, Lidia
,
Barrese, Vincenzo
,
Soldovieri, Maria Virginia
,
Heinzen, Erin L.
,
Mandel, Arthur M.
,
Lippa, Natalie
,
Bier, Louise
,
Goldstein, David B.
,
Cooper, Edward C.
,
Cilio, Maria Roberta
,
Taglialatela, Maurizio
,
Sands, Tristan T.
Published in
Frontiers in physiology
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