Publications
2021
-
Unusual Behaviors in a 7-year-old Boy
Chang L,
Shao DD,
Eichler FS,
Srivastava S
Pediatr Rev.
2021 Jan;
42
(Suppl 1):
S122-S125
[Pubmed]
-
Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations
Uljarević M,
Frazier T,
Rached G,
Busch R,
Klaas P,
Srivastava S
,
Martinez-Agosto J,
Sahin M,
Eng C,
Hardan A,
Developmental Synaptopathies Consortium
J Autism Dev Disord.
2021 Feb 17
[Pubmed]
-
Rare Deleterious Mutations of HNRNP Genes Result in Shared Neurodevelopmental Disorders
Gillentine M,
Wang T,
Hoekzema K,
Rosenfeld J,
Liu P,
Guo H,
Kim C,
Vries B,
Vissers L,
Nordenskjold M,
Kvarnung M,
Lindstrand A,
Nordgren A,
Gecz J,
Iascone M,
Cereda A,
Scatigno A,
Maitz S,
Zanni G,
Bertini E,
Zweier C,
Schuhmann S,
Wiesener A,
Pepper M,
Heena PanjwaniH,
Torti E,
Abid F,
Anselm I,
Srivastava S
,
Atwal P,
Bacino C,
Bhat G,
Cobian K,
Bird L,
Jennifer FriedmanJ,
Wright M,
Callewaert B,
Petit F,
Mathieu S,
Afenjar A,
Christensen C,
White K,
Elpeleg O,
Berger I,
Espineli E,
Fagerberg C,
Andersen C,
Hansen L,
Feyma T,
Hughes S,
Thiffault I,
Sullivan B,
Yan S,
Keller K,
Keren B,
Mignot C,
Kooy F,
Meuwissen M,
Basinger A,
Kukolich M,
Philips M,
Ortega L,
Borg M,
Lauridsen M,
Sorensen K,
CAUSES Study,
Rangel E,
Levy P,
Lessel D,
Lotze T,
Khetarpal S,
Sebastian J,
Vento J,
Vats D,
Benman L,
Mckee S,
Mirzaa G,
Muss C,
Pappas J,
Peeters H,
Romano C,
Elia M,
Galesi O,
Simon M,
Gassen K,
Simpson K,
Stratton R,
Syed S,
Thevenon J,
Palafoll I,
Vitobello A,
Bournez M,
Faivre L,
Xia K,
SPARK Consortium,
Earl R,
Nowakowski T,
Bernier R,
Eichler E
Genome Med.
2021 Apr 19;
13
(1):
63
[Pubmed]
-
Clinical, Neuroimaging, and Molecular Spectrum of TECPR2-Associated Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
Neuser S,
Brechmann B,
Heimer G,
Brösse I,
Schubert S,
Grady L,
Zech M,
Srivastava S
,
Sweetser D,
Dincer Y,
Mall V,
Winkelmann J,
Behrends C,
Darras B,
Graham R,
Jayakar P,
Byrne B,
El Bar-Aluma B,
Haberman Y,
Szeinberg A,
Aldhalaan H,
Hashem M,
Tenaiji A,
Ismayl O,
Nuaimi A,
Maher K,
Ibrahim S,
Khan F,
Houlden H,
Ramakumaran V,
Pagnamenta A,
Posey J,
Lupski J,
Tan W,
ElGhazali G,
Herman I,
Muñoz T,
Repetto G,
Seitz A,
Krumbiegel M,
Poli M,
Kini U,
Efthymiou S,
Meiler J,
Maroofian R,
Alkuraya F,
Jamra R,
Popp B,
Ben-Zeev B,
Ebrahimi-Fakhari D.
Hum Mutat.
2021 Jun;
42
(6):
762-776
[Pubmed]
-
Speech and Language Deficits are Central to SETBP1 Haploinsufficiency Disorder
Morgan A,
Braden R,
Wong MMK,
Colin E,
Amor D,
Liégeois F,
Srivastava S
,
Vogel A,
Bizaoui V,
Ranguin K,
Fisher SE,
van Bon BW
Eur J Hum Genet.
2021 Apr 27
[Pubmed]
-
Clinical Delineation of SETBP1 Haploinsufficiency Disorder
Jansen NA,
Braden RO,
Srivastava S
,
Otness EF,
Lesca G,
Rossi M,
Nizon M,
Bernier RA,
Quelin C,
van Haeringen A,
Kleefstra T,
Wong MMK,
Whalen S,
Fisher SE,
Morgan AT,
van Bon BW
Eur J Hum Genet.
2021 Apr 19
[Pubmed]
-
Severe speech impairment is a distinguishing feature of FOXP1-related disorder
Braden R,
Amor D,
Fisher S,
Mei C,
Myers C,
Mefford H,
Gill D,
Srivastava S
,
Swanson L,
Goel H,
Scheffer I,
Morgan A
Dev Med Child Neurol.
2021 Jun 9
[Pubmed]
-
A standard of care for individuals with PIK3CA-related disorders - an international expert consensus statement
Douzgou S,
Rawson M,
Baselga E,
Danielpour M,
Faivre L,
Kashanian A,
Keppler-Noreuil KM,
Kuentz P,
Mancini GMS,
Maniere MC,
Martinez-Glez V,
Parker VE,
Semple RK,
Srivastava S
,
Vabres P,
de Wit MY,
Graham,
Jr JM,
Clayton-Smith J,
Mirzaa GM,
Biesecker LG
Clin Genet.
2021 Jul 8
[Pubmed]
-
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
Srivastava S
,
Macke E,
Swanson L,
Coulter D,
Klee E,
Mullegama S,
Xie Y,
Lanpher B,
Bedoukian E,
Skraban C,
Villard L,
Milh M,
Leppert M,
Cohen J
Brain Sci.
2021 Jul 14;
11
(7):
931
[Pubmed]
-
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Johannesen K,
Liu Y,
Koko M,
Gjerulfsen C,
Sonnenberg L,
Schubert J,
Fenger C,
Eltokhi A,
Rannap M,
Koch N,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
R Lemke J,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein K,
Au P,
Rho J,
Ho A,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen C,
Striano P,
Zara F,
Verhelst H,
Verhoeven J,
vanderZwaag B,
Harder A,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le N,
Christensen J,
Grønborg S,
W Scherer S,
Howe J,
Fazeli W,
Howell K,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
M Bonardi C,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Mahdi Motazacker M,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Scott Perry M,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain K,
Eisenhauer N,
Wagner M,
Savatt J,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Cecile Nassogne M,
Destrée A,
Sofie Schoonjans A,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S
,
Hann Tan W,
Olson H,
Loddenkemper T,
Poduri A,
Helbig K,
Helbig I,
Fitzgerald M,
Goldberg E,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne H,
Lesca G,
Hedrich U,
Benda J,
Gardella E,
Lerche H,
Møller R
Brain.
2021 Aug 25
[Pubmed]
-
Psychiatric Characteristics Across Individuals With PTEN Mutations
Steele M,
Uljarević M,
Rached G,
Frazier TW,
Phillips JM,
Libove RA,
Busch RM,
Klaas P,
Martinez-Agosto JA,
Srivastava S
,
Eng C,
Sahin M,
Hardan AY
Front Psychiatry.
2021;
12
(672070)
[Pubmed]
-
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome - Results from the developmental Synaptopathies consortium
Levy T,
Foss-Feig JH,
Betancur C,
Siper PM,
Pilar Trelles-Thorne M,
Halpern D,
Frank Y,
Lozano R,
Layton C,
Britvan B,
Bernstein JA,
Buxbaum JD,
Berry-Kravis E,
Powell CM,
Srivastava S
,
Sahin M,
Soorya L,
Thurm A,
Kolevzon A
Hum Mol Genet.
2021 Sep 24
[Pubmed]
-
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Yabumoto M,
Kianmahd J,
Singh M,
Palafox MF,
Wei A,
Elliott K,
Goodloe DH,
Dean SJ,
Gooch C,
Murray BK,
Swartz E,
Schrier Vergano SA,
Towne MC,
Nugent K,
Roeder ER,
Kresge C,
Pletcher BA,
Grand K,
Graham JM Jr,
Gates R,
Gomez-Ospina N,
Ramanathan S,
Clark RD,
Glaser K,
Benke PJ,
Cohen JS,
Fatemi A,
Mu W,
Baranano KW,
Madden JA,
Gubbels CS,
Yu TW,
Agrawal PB,
Chambers MK,
Phornphutkul C,
Pugh JA,
Tauber KA,
Azova S,
Smith JR,
O'Donnell-Luria A,
Medsker H,
Srivastava S
,
Krakow D,
Schweitzer DN,
Arboleda VA
Mol Genet Genomic Med.
2021 Oct;
9
(10):
e1809
[Pubmed]
-
Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark
Gill RE,
Tang B,
Smegal L,
Adamek JH,
McAuliffe D,
Lakshmanan BM,
Srivastava S
,
Quain AM,
Sebold AJ,
Lin DDM,
Kossoff EH,
Caffo B,
Comi AM,
Ewen JB
Clin Neurophysiol.
2021 Oct;
132
(10):
2440-2446
[Pubmed]
-
Neurodevelopmental profile of HIVEP2-related disorder
Mo A,
Snyder LG,
Babington O,
Chung WK,
Sahin M,
Srivastava S
Dev Med Child Neurol.
2021 Oct 26
[Pubmed]
-
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations
Uljarević M,
Frazier TW,
Rached G,
Busch RM,
Klaas P,
Srivastava S
,
Martinez-Agosto JA,
Sahin M,
Eng C,
Hardan AY
Am J Med Genet A.
2021 Nov;
185
(11):
3401-3410
[Pubmed]
-
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
oureiro LO,
Howe JL,
Reuter MS,
Iaboni A,
Calli K,
Roshandel D,
Pritišanac I,
Moses A,
Forman-Kay JD,
Trost B,
Zarrei M,
Rennie O,
Lau LYS,
Marshall CR,
Srivastava S
,
Godlewski B,
Buttermore ED,
Sahin M,
Hartley D,
Frazier T,
Vorstman J,
Georgiades S,
Lewis SME,
Szatmari P,
Bradley CAL,
Tabet AC,
Willems M,
Lumbroso S,
Piton A,
Lespinasse J,
Delorme R,
Bourgeron T,
Anagnostou E,
Scherer SW
NPJ Genom Med.
2021 Nov 4;
6
(1)
[Pubmed]
-
Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder
Filippidis A,
Lidov H,
Al-Ibraheemi A,
See AP,
Srivastava S
,
Orbach DB,
Fehnel KP
Am J Med Genet A.
2021 Dec 2
[Pubmed]
2020
-
Xq22 Deletions and Correlation with Distinct Neurological Disease Traits in Females / Further Evidence for a Contiguous Gene Syndrome
Hijazi H,
Coelho FS,
Gonzaga-Jauregui C,
Bernardini L,
Mar SS,
Manning MA,
Hanson-Kahn A,
Naidu S,
Srivastava S
,
Lee JA,
Jones JR,
Friez MJ,
Alberico T,
Torres B,
Fang P,
Cheung SW,
Song X,
Davis-Williams A,
Jornlin C,
Wight PA,
Patyal P,
Taube J,
Poretti A,
Inoue K,
Zhang F,
Pehlivan D,
Carvalho CMB,
Hobson GM,
Lupski JR
Hum Mutat.
2020 Jan;
41
(1):
150-168
[Pubmed]
-
Alexander Disease
Srivastava S
,
Waldman A,
Naidu S
GeneReviews.
2020
[Pubmed]
-
Expansion of the Genetic Landscape of ERLIN2-related Disorders
Srivastava S
,
D'Amore A,
Cohen JS,
Swanson LC,
Ricca I,
Pini A,
Fatemi A,
Ebrahimi-Fakhari D,
Santorelli FM
Ann Clin Transl Neurol.
2020 Apr;
7
(4):
573-578
[Pubmed]
-
Int22h1/Int22h2-mediated Xq28 Duplication Syndrome - De Novo Duplications, Prenatal Diagnoses, and Additional Phenotypic Features
Ballout R,
Dickerson C,
Wick M,
Al-Sweel N,
Openshaw A,
Srivastava S
,
Swanson L,
Bramswig N,
Kuechler A,
Hong B,
Fleming L,
Curry K,
Robertson S,
Andersen E,
El-Hattab A
Hum Mutat.
2020 Jul;
41
(7):
1238-1249
[Pubmed]
-
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome
Bassell J,
Srivastava S
,
Prohl AK,
Scherrer B,
Kapur K,
Filip-Dhima R,
Berry-Kravis E,
Soorya L,
Thurm A,
Powell CM,
Bernstein JA,
Buxbaum JD,
Kolevzon A,
Warfield SK,
Sahin M
Pediatr Neurol.
2020 May:
24-31
[Pubmed]
-
Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome
Srivastava S
,
Clark B,
Landy-Schmitt C,
Offermann EA,
Kline AD,
Wilkinson ST,
Grados MA
J Autism Dev Disord.
2020 Aug 18
[Pubmed]
-
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lenaerts L,
Reynhout S,
Verbinnen I,
Laumonnier F,
Toutain A,
Bonnet-Brilhault F,
Hoorne Y,
Joss S,
Chassevent AK,
Smith-Hicks C,
Loeys B,
Joset P,
Steindl K,
Rauch A,
Mehta SG,
Chung WK,
Devriendt K,
Holder SE,
Jewett T,
Baldwin LM,
Wilson WG,
Towner S,
Srivastava S
,
Johnson HF,
Daumer-Haas C,
Baethmann M,
Ruiz A,
Gabau E,
Jain V,
Varghese V,
Al-Beshri A,
Fulton S,
Wechsberg O,
Orenstein N,
Prescott K,
Childs AM,
Faivre L,
Moutton S,
Sullivan JA,
Shashi V,
Koudijs SM,
Heijligers M,
Kivuva E,
McTague A,
Male A,
van Ierland Y,
Plecko B,
Maystadt I,
Hamid R,
Hannig VL,
Houge G,
Janssens V
Genet Med.
2020 Oct 27
[Pubmed]
-
Polymicrogyria is Associated With Pathogenic Variants in PTEN
Shao DD,
Achkar CM,
Lai A,
Srivastava S
,
Doan RN,
Rodan LH,
Chen AY,
Poduri A,
Yang E,
Walsh CA
Ann Neurol.
2020 Dec;
88
(6):
1153-1164
[Pubmed]
-
Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome
Smith JR,
Liu E,
Church AJ,
Asch E,
Cherella CE,
Srivastava S
,
Kamihara J,
Wassner AJ
J Clin Endocrinol Metab.
2020 Dec
[Pubmed]
2019
-
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis
Gordon-Lipkin E,
Cohen JS,
Srivastava S
,
Soares BP,
Levey E,
Fatemi A
J Child Neurol.
2018 Nov 1;
33
(13):
825-831
[Pubmed]
-
Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome
Srivastava S
,
Scherrer B,
Prohl AK,
Filip-Dhima R,
Kapur K,
Kolevzon A,
Buxbaum JD,
Berry-Kravis E,
Soorya L,
Thurm A,
Powell CM,
Bernstein JA,
Warfield SK,
Sahin M
Pediatr Neurol.
2019 Jan 1:
37-43
[Pubmed]
-
Dysregulations of Sonic Hedgehog Signaling in MED12-related X-linked Intellectual Disability Disorders
Srivastava S
,
Niranjan T,
May MM,
Tarpey P,
Allen W,
Hackett A,
Jouk PS,
Raymond L,
Briault S,
Skinner C,
Toutain A,
Gecz J,
Heath W,
Stevenson RE,
Schwartz CE,
Wang T
Mol Genet Genomic Med.
2019 Feb 6:
e569
[Pubmed]
-
Expansion of the Clinical Spectrum Associated with AARS2-related Disorders
Srivastava S
,
Butala A,
Mahida S,
Richter J,
Mu W,
Poretti A,
Vernon H,
VanGerpen J,
Atwal PS,
Middlebrooks EH,
Zee DS,
Naidu S
Am J Med Genet A.
2019 Aug;
179
(8):
1556-1564
[Pubmed]
-
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome
Kane MS,
Zhao J,
Muskett J,
Diplock A,
Srivastava S
,
Hauser N,
Deeken JF,
Niederhuber JE,
Smith WE,
Vilboux T,
Ebrahimi-Fakhari D
Neuropediatrics.
2019 Aug;
50
(4):
257-261
[Pubmed]
-
Metabolic Strokes in Propionic Acidemia, Transient Hemiplegic Events Without Encephalopathy
Almuqbil M,
Chinsky JM,
Srivastava S
Child Neurol Open.
2019:
2329048X19873242
[Pubmed]
-
Neurobehavioral Phenotype of Autism Spectrum Disorder Associated with Germline Heterozygous Mutations in PTEN
Busch RM*,
Srivastava S*
,
Hogue O,
Frazier TW,
Klaas P,
Hardan A,
Martinez-Agosto JA,
Sahin M,
Eng C
* = equal contributors.
Transl Psychiatry.
2019 Oct 8;
9
(1):
253
[Pubmed]
-
Meta-analysis and Multidisciplinary Consensus Statement / Exome Sequencing is a First-tier Clinical Diagnostic Test for Individuals with Neurodevelopmental Disorders
Srivastava S
,
Love-Nichols JA*,
Dies KA,
Ledbetter DH,
Martin CL,
Chung WK,
Firth HV,
Frazier T,
Hansen RL,
Prock L,
Brunner H,
Hoang N,
Scherer SW,
Sahin M,
Miller DT
* = equal contributors.
Genet Med.
2019 Nov;
21
(11):
2413-2421
[Pubmed]
2018
-
Monogenic Disorders that Mimic the Phenotype of Rett Syndrome
Srivastava S
,
Desai S,
Cohen J,
Smith-Hicks C,
Barañano K,
Fatemi A,
Naidu S
Neurogenetics.
2018 Jan;
19
(1):
41-47
[Pubmed]
-
Cerebellar Volume as an Imaging Marker of Development in Infants with Tuberous Sclerosis Complex
Srivastava S
,
Prohl A,
Scherrer B,
Kapur K,
Warfield S,
Krueger D,
Sahin M
Neurology.
2018 Apr 24;
90
(17):
e1493-e1500
[Pubmed]
2017
-
Evaluation of QTc in Rett Syndrome: Correlation with Age, Severity, and Genotype
Crosson J,
Srivastava S
,
Bibat G,
Gupta S,
Kantipuly A,
Smith-Hicks C,
Myers S,
Sanyal A,
Yenokyan G,
Brenner J,
Naidu S
Am J Med Genet A.
2017;
173
(6):
1495-1501
[Pubmed]
-
Cornelia de Lange Syndrome and Molecular Implications of the Cohesin Complex: Abstracts from the 7th Biennial Scientific and Educational Symposium 2016
Kline A,
Krantz I,
Deardorff M,
Shirahige K,
Dorsett D,
Gerton J,
Wu M,
Mehta D,
Mills J,
Carrico C,
Noon S,
Herrera P,
Horsfield J,
Bettale C,
Morgan J,
Huisman S,
Moss J,
McCleery J,
Grados M,
Hansen B,
Srivastava S
,
Taylor-Snell E,
Kerr L,
Katz O,
Calof A,
Musio A,
Egense A,
Haaland R
Am J Med Genet A.
2017 May;
173
(5):
1172-1185
[Pubmed]
-
Behavioral and Psychiatric Manifestations in Cornelia de Lange Syndrome
Grados M,
Alvi M,
Srivastava S
Curr Opin Psychiatry.
2017 Mar;
30
(2):
92-96
[Pubmed]
-
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant
Srivastava S
,
Gubbels CS,
Dies K,
Fulton A,
Yu T,
Sahin M
J Child Neurol.
2017 Aug;
32
(9):
840-845
[Pubmed]
-
Deficiency of WARS2, Encoding Mitochondrial Tryptophanyl tRNA Synthetase, Causes Severe Infantile Onset Leukoencephalopathy
Theisen BE,
Rumyantseva A,
Cohen JS,
Alcaraz WA,
Shinde DN,
Tang S,
Srivastava S
,
Pevsner J,
Trifunovic A,
Fatemi A
Am J Med Genet A.
2017 Sep;
173
(9):
2505-2510
[Pubmed]
-
Autism Spectrum Disorder and Epileptic Encephalopathy: Common Causes, Many Questions
Srivastava S
,
Sahin M
J Neurodev Disord.
2017;
9
(23)
[Pubmed]
-
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1: Genotypes and Phenotypes
de Kovel CGF,
Syrbe S,
Brilstra EH,
Verbeek N,
Kerr B,
Dubbs H,
Bayat A,
Desai S,
Naidu S,
Srivastava S
,
Cagaylan H,
Yis U,
Saunders C,
Rook M,
Plugge S,
Muhle H,
Afawi Z,
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