Works matching AU Srivastava, Siddharth

Results: 131

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 636, doi. 10.1111/cge.14697

By:

Frazier, Zoë J.;
Kilic, Seyda;
Osika, Hailey;
Mo, Alisa;
Quinn, Meg;
Ballal, Sonia;
Katz, Tamar;
Shearer, A. Eliot;
Horlbeck, Max A.;
Pais, Lynn S.;
Dies, Kira A.;
O'Donnell‐Luria, Anne;
Kossowsky, Joe;
Lipton, Jonathan O.;
Kleefstra, Tjitske;
Srivastava, Siddharth

Publication type:

Article

Bacteriological Spectrum in Bile and Outcomes in Patients of Acute Bacterial Cholangitis.

Published in:

Indian Journal of Surgery, 2025, v. 87, n. 3, p. 479, doi. 10.1007/s12262-024-04181-z

By:

Singh, Alok Kumar;
George, Roshan;
Vaithiyam, Venkatesh;
Padia, Gaurav;
Sachdeva, Sanjeev;
Dalal, Ashok;
Srivastava, Siddharth

Publication type:

Article

Monogenic disorders that mimic the phenotype of Rett syndrome.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 41, doi. 10.1007/s10048-017-0535-3

By:

Srivastava, Siddharth;
Desai, Sonal;
Cohen, Julie;
Smith-Hicks, Constance;
Barañano, Kristin;
Fatemi, Ali;
Naidu, SakkuBai

Publication type:

Article

Utility of cytomorphology in distinguishing solid pseudopapillary neoplasm of pancreas from pancreatic neuroendocrine tumor with emphasis on nuclear folds and nuclear grooves.

Published in:

Diagnostic Cytopathology, 2019, v. 47, n. 6, p. 531, doi. 10.1002/dc.24145

By:

Misra, Sunayana;
Saran, RK;
Srivastava, Siddharth;
Barman, Sandip;
Dahale, Amol

Publication type:

Article

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206

By:

Neuser, Sonja;
Brechmann, Barbara;
Heimer, Gali;
Brösse, Ines;
Schubert, Susanna;
O'Grady, Lauren;
Zech, Michael;
Srivastava, Siddharth;
Sweetser, David A.;
Dincer, Yasemin;
Mall, Volker;
Winkelmann, Juliane;
Behrends, Christian;
Darras, Basil T.;
Graham, Robert J.;
Jayakar, Parul;
Byrne, Barry;
Bar‐Aluma, Bat El;
Haberman, Yael;
Szeinberg, Amir

Publication type:

Article

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1238, doi. 10.1002/humu.24009

By:

Ballout, Rami A.;
Dickerson, Cheryl;
Wick, Myra J.;
Al‐Sweel, Najla;
Openshaw, Amanda S.;
Srivastava, Siddharth;
Swanson, Lindsay C.;
Bramswig, Nuria C.;
Kuechler, Alma;
Hong, Bo;
Fleming, Leah R.;
Curry, Kathryn;
Robertson, Stephen P.;
Andersen, Erica F.;
El‐Hattab, Ayman W.

Publication type:

Article

Inside Back Cover, Volume 41, Issue 1.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. ii, doi. 10.1002/humu.23967

By:

Hijazi, Hadia;
Coelho, Fernanda S.;
Gonzaga‐Jauregui, Claudia;
Bernardini, Laura;
Mar, Soe S.;
Manning, Melanie A.;
Hanson‐Kahn, Andrea;
Naidu, SakkuBai;
Srivastava, Siddharth;
Lee, Jennifer A.;
Jones, Julie R.;
Friez, Michael J.;
Alberico, Thomas;
Torres, Barbara;
Fang, Ping;
Cheung, Sau Wai;
Song, Xiaofei;
Davis‐Williams, Angelique;
Jornlin, Carly;
Wight, Patricia A.

Publication type:

Article

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 150, doi. 10.1002/humu.23902

By:

Hijazi, Hadia;
Coelho, Fernanda S.;
Gonzaga‐Jauregui, Claudia;
Bernardini, Laura;
Mar, Soe S.;
Manning, Melanie A.;
Hanson‐Kahn, Andrea;
Naidu, SakkuBai;
Srivastava, Siddharth;
Lee, Jennifer A.;
Jones, Julie R.;
Friez, Michael J.;
Alberico, Thomas;
Torres, Barbara;
Fang, Ping;
Cheung, Sau Wai;
Song, Xiaofei;
Davis‐Williams, Angelique;
Jornlin, Carly;
Wight, Patricia A.

Publication type:

Article

Role of linear endosonography in the diagnosis of biopsy‐negative malignant esophageal strictures: Exploring the unexplored.

Published in:

JGH Open, 2020, v. 4, n. 2, p. 113, doi. 10.1002/jgh3.12225

By:

Dahale, Amol S;
Srivastava, Siddharth;
Sonika, Ujjwal;
Dalal, Ashok;
Goyal, Aditi;
Sakhuja, Puja;
Sachdeva, Sanjeev;
Puri, Amarender S

Publication type:

Article

AI-Driven Spectral Decomposition: Predicting the Most Probable Protein Compositions from Surface Enhanced Raman Spectroscopy Spectra of Amino Acids.

Published in:

Bioengineering (Basel), 2024, v. 11, n. 5, p. 482, doi. 10.3390/bioengineering11050482

By:

Srivastava, Siddharth;
Sandhu, Nehmat;
Liu, Jun;
Xie, Ya-Hong

Publication type:

Article

Motor phenotypes associated with genetic neurodevelopmental disorders.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 12, p. 3238, doi. 10.1002/acn3.52231

By:

Santana Almansa, Alexandra;
Snyder, LeeAnne Green;
Chung, Wendy K.;
Bain, Jennifer M.;
Srivastava, Siddharth

Publication type:

Article

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1301, doi. 10.1002/acn3.52046

By:

Dhawan, Andrew;
Baitamouni, Sarah;
Liu, Darren;
Busch, Robyn;
Klaas, Patricia;
Frazier, Thomas W.;
Srivastava, Siddharth;
Parikh, Sumit;
Hsich, Gary E.;
Friedman, Neil R.;
Ritter, David M.;
Hardan, Antonio Y.;
Martinez‐Agosto, Julian A.;
Sahin, Mustafa;
Eng, Charis

Publication type:

Article

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 2, p. 251, doi. 10.1002/acn3.51942

By:

Santana Almansa, Alexandra;
Gable, Dustin L.;
Frazier, Zoë;
Sveden, Abigail;
Quinlan, Aisling;
Chopra, Maya;
Lewis, Sara A.;
Kruer, Michael;
Poduri, Annapurna;
Srivastava, Siddharth

Publication type:

Article

Expansion of the genetic landscape of ERLIN2‐related disorders.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 573, doi. 10.1002/acn3.51007

By:

Srivastava, Siddharth;
D'Amore, Angelica;
Cohen, Julie S.;
Swanson, Lindsay C.;
Ricca, Ivana;
Pini, Antonella;
Fatemi, Ali;
Ebrahimi‐Fakhari, Darius;
Santorelli, Filippo M.

Publication type:

Article

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.

Published in:

JAMA Neurology, 2022, v. 79, n. 12, p. 1287, doi. 10.1001/jamaneurol.2022.3549

By:

Srivastava, Siddharth;
Lewis, Sara A.;
Cohen, Julie S.;
Zhang, Bo;
Aravamuthan, Bhooma R.;
Chopra, Maya;
Sahin, Mustafa;
Kruer, Michael C.;
Poduri, Annapurna

Publication type:

Article

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

Published in:

JAMA Neurology, 2017, v. 74, n. 10, p. 1228, doi. 10.1001/jamaneurol.2017.1714

By:

de Kovel, Carolien G. F.;
Syrbe, Steffen;
Brilstra, Eva H.;
Verbeek, Nienke;
Kerr, Bronwyn;
Dubbs, Holly;
Bayat, Allan;
Desai, Sonal;
Naidu, Sakkubai;
Srivastava,, Siddharth;
Cagaylan, Hande;
Uluc Yis;
Saunders, Carol;
Rook, Martin;
Plugge, Susanna;
Muhle, Hiltrud;
Afawi, Zaid;
Klein, Karl-Martin;
Jayaraman, Vijayakumar;
Rajagopalan, Ramakrishnan

Publication type:

Article

Factors Affecting the Successful Implementation of a Digital Intervention for Health Financing in a Low-Resource Setting at Scale: Semistructured Interview Study With Health Care Workers and Management Staff.

Published in:

Journal of Medical Internet Research, 2023, v. 25, n. 1, p. 1, doi. 10.2196/38818

By:

Schuetze, Leon;
Srivastava, Siddharth;
Missenye, Abdallah Mtiba;
Rwezaula, Elizeus Josephat;
Stoermer, Manfred;
De Allegri, Manuela

Publication type:

Article

Step-Down Approach for Pharyngoesophageal Corrosive Stricture: Outcome and Analysis.

Published in:

World Journal of Surgery, 2017, v. 41, n. 8, p. 2053, doi. 10.1007/s00268-017-3966-y

By:

Saluja, Sundeep;
Varshney, Vaibhav;
Mishra, Pramod;
Srivastava, Siddharth;
Meher, Ravi;
Saxena, Pritul

Publication type:

Article

Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene.

Published in:

Movement Disorders, 2011, v. 26, n. 7, p. 1329, doi. 10.1002/mds.23646

By:

Hashimoto, Ryu-ichiro;
Srivastava, Siddharth;
Tassone, Flora;
Hagerman, Randi J.;
Rivera, Susan M.

Publication type:

Article

Pulp volume estimation using CBCT- an in vitro pilot study on extracted monoradicular teeth.

Published in:

Journal of Dental Specialities, 2016, v. 4, n. 2, p. 124, doi. 10.18231/2393-9834.2016.0005

By:

Rathore, Akshay;
Suma, G. N.;
Sahai, Sharad;
Sharma, Manisha Lakhanpal;
Srivastava, Siddharth

Publication type:

Article

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 931, doi. 10.3390/brainsci11070931

By:

Srivastava, Siddharth;
Macke, Erica L.;
Swanson, Lindsay C.;
Coulter, David;
Klee, Eric W.;
Mullegama, Sureni V.;
Xie, Yili;
Lanpher, Brendan C.;
Bedoukian, Emma C.;
Skraban, Cara M.;
Villard, Laurent;
Milh, Mathieu;
Leppert, Mary L. O.;
Cohen, Julie S.

Publication type:

Article

Encysted Tenia solium larva of oral cavity: Case report with review of literature.

Published in:

2012

By:

Krishnamoorthy, Bhuvana;
Suma Gunda Reddy, N.;
Dhillon, Manu;
Srivastava, Siddharth;
Lakhanpal Sharma, manisha;
Singh Malik, Sangeeta

Publication type:

Case Study

Reports on the 2018 AAAI Spring Symposium Series.

Published in:

2018

By:

Amato, Christopher;
Ammar, Haitham Bou;
Churchill, Elizabeth;
Karpas, Erez;
Kido, Takashi;
Kuniavsky, Mike;
Lawless, W. F.;
Oliehoek, Frans A.;
Rossi, Francesca;
Russell, Stephen;
Srivastava, Siddharth;
Takadama, Keiki;
van Allen, Philip;
Venable, K. Brent;
Tuyls, Karl;
Vrancx, Peter;
Shiqi Zhang

Publication type:

Proceeding

Neurodevelopmental profile of HIVEP2‐related disorder.

Published in:

Developmental Medicine & Child Neurology, 2022, v. 64, n. 5, p. 654, doi. 10.1111/dmcn.15100

By:

Mo, Alisa;
Snyder, Leeanne G;
Babington, Owen;
Chung, Wendy K;
Sahin, Mustafa;
Srivastava, Siddharth

Publication type:

Article

Severe speech impairment is a distinguishing feature of FOXP1‐related disorder.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1417, doi. 10.1111/dmcn.14955

By:

Braden, Ruth O;
Amor, David J;
Fisher, Simon E;
Mei, Cristina;
Myers, Candace T;
Mefford, Heather;
Gill, Deepak;
Srivastava, Siddharth;
Swanson, Lindsay C;
Goel, Himanshu;
Scheffer, Ingrid E;
Morgan, Angela T

Publication type:

Article

Endoscopic Retrograde Cholangiopancreaticography in Children: A Single-center Experience From Northern India.

Published in:

Indian Pediatrics, 2019, v. 56, n. 3, p. 196, doi. 10.1007/s13312-019-1498-2

By:

Dahale, Amol Sonyabapu;
Puri, Amarender Singh;
Sachdeva, Sanjeev;
Srivastava, Siddharth;
Kumar, Ajay

Publication type:

Article

Foundations and applications of generalized planning.

Published in:

AI Communications, 2011, v. 24, n. 4, p. 349, doi. 10.3233/aic-2011-0508

By:

Srivastava, Siddharth

Publication type:

Article

Classification of endoscopic ultrasound guided fine needle aspiration cytology of pancreatic space occupying lesions by Papanicolaou Society of Cytopathology System: A five year study.

Published in:

Diagnostic Cytopathology, 2023, v. 51, n. 2, p. 105, doi. 10.1002/dc.25058

By:

Chaudhary, Dimple;
Banga, Priyanka;
Sakhuja, Puja;
Goyal, Surbhi;
Saran, Ravindra K.;
Batra, Vineeta V.;
Srivastava, Siddharth;
Agarwal, Anil K.

Publication type:

Article

Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.

Published in:

Child's Nervous System, 2024, v. 40, n. 3, p. 801, doi. 10.1007/s00381-023-06167-w

By:

Slingerland, Anna L.;
Keusch, Dylan S.;
Lehman, Laura L.;
Smith, Edward R.;
Srivastava, Siddharth;
See, Alfred P.

Publication type:

Article

Experimental investigations of AA6061/Al2O3/WC/SiC hybrid metal matrix composite fabricated by two step stir casting.

Published in:

Advances in Materials & Processing Technologies, 2024, v. 10, n. 3, p. 2374, doi. 10.1080/2374068X.2023.2215609

By:

Vishnoi, Mohit;
Srivastava, Siddharth;
Rai, Shardul;
Verma, Neeraj;
T G, Mamatha

Publication type:

Article

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype–phenotype correlations.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 93, doi. 10.1093/hmg/ddac182

By:

Alecu, Julian E;
Saffari, Afshin;
Jordan, Catherine;
Srivastava, Siddharth;
Blackstone, Craig;
Ebrahimi-Fakhari, Darius

Publication type:

Article

randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3393, doi. 10.1093/hmg/ddac111

By:

Srivastava, Siddharth;
Jo, Booil;
Zhang, Bo;
Frazier, Thomas;
Gallagher, Anne Snow;
Peck, Fleming;
Levin, April R;
Mondal, Sangeeta;
Li, Zetan;
Filip-Dhima, Rajna;
Geisel, Gregory;
Dies, Kira A;
Diplock, Amelia;
Eng, Charis;
Hanna, Rabi;
Sahin, Mustafa;
Hardan, Antonio;
Consortium, the Developmental Synaptopathies

Publication type:

Article

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 4, p. 625, doi. 10.1093/hmg/ddab280

By:

Levy, Tess;
Foss-Feig, Jennifer H;
Betancur, Catalina;
Siper, Paige M;
Trelles-Thorne, Maria del Pilar;
Halpern, Danielle;
Frank, Yitzchak;
Lozano, Reymundo;
Layton, Christina;
Britvan, Bari;
Bernstein, Jonathan A;
Buxbaum, Joseph D;
Berry-Kravis, Elizabeth;
Powell, Craig M;
Srivastava, Siddharth;
Sahin, Mustafa;
Soorya, Latha;
Thurm, Audrey;
Kolevzon, Alexander;
Consortium, the Developmental Synaptopathies

Publication type:

Article

Facial Asymmetry in Young Adults with Condylar Hyperplasia-Unusual Changes in the Facial Bones.

Published in:

2015

By:

SUMA, G. N.;
LAKHANPAL SHARMA, MANISHA;
DAYASHANKAR RAO, J. K.;
GOEL, SUMIT;
SRIVASTAVA, SIDDHARTH

Publication type:

Case Study

Carcinoma Ex Pleomorphic Adenoma of Parotid Gland with Hepatic Metastasis: Clinic-Radiological Case Report.

Published in:

2014

By:

DHILLON, MANU;
TOMAR, DIVYA;
SHARMA, MANU;
GOEL, SAMTA;
SRIVASTAVA, SIDDHARTH

Publication type:

Case Study

Management of Acquired Tracheoesophageal Fistula Complicating Endoscopic Management for Corrosive Esophageal Stricture.

Published in:

2016

By:

Shah, Harsh;
Prasar, Kunal;
Srivastava, Siddharth;
Mishra, Pramod Kumar;
Saluja, Sundeep Singh

Publication type:

journal article

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09541-0

By:

Levy, Tess;
Gluckman, Jacob;
Siper, Paige M.;
Halpern, Danielle;
Zweifach, Jessica;
Filip-Dhima, Rajna;
Holder Jr., J. Lloyd;
Trelles, M. Pilar;
Johnson, Kristina;
Bernstein, Jonathan A.;
Berry-Kravis, Elizabeth;
Powell, Craig M.;
Soorya, Latha Valluripalli;
Thurm, Audrey;
Buxbaum, Joseph D.;
Sahin, Mustafa;
Kolevzon, Alexander;
Srivastava, Siddharth

Publication type:

Article

The Brain Gene Registry: a data snapshot.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09530-3

By:

Baldridge, Dustin;
Kaster, Levi;
Sancimino, Catherine;
Srivastava, Siddharth;
Molholm, Sophie;
Gupta, Aditi;
Oh, Inez;
Lanzotti, Virginia;
Grewal, Daleep;
Riggs, Erin Rooney;
Savatt, Juliann M.;
Hauck, Rachel;
Sveden, Abigail;
Wasserstein, Melissa;
Sahin, Mustafa;
Wangler, Michael F.;
Schultz, Robert;
Gropman, Andrea;
Smith-Hicks, Constance;
Abbeduto, Len

Publication type:

Article

SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.

Published in:

Clinical Genetics, 2024, v. 106, n. 4, p. 448, doi. 10.1111/cge.14579

By:

Oyler, Haley O.;
Hudac, Caitlin M.;
Chung, Wendy K.;
Green Synder, LeeAnne;
Robertson, Stephanie;
Srivastava, Siddharth;
Geye, Trina

Publication type:

Article

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353

By:

Rossi, Alessandra;
Blok, Lot Snijders;
Neuser, Sonja;
Klöckner, Chiara;
Platzer, Konrad;
Faivre, Laurence Olivier;
Weigand, Heike;
Dentici, Maria L.;
Tartaglia, Marco;
Niceta, Marcello;
Alfieri, Paolo;
Srivastava, Siddharth;
Coulter, David;
Smith, Lacey;
Vinorum, Kristin;
Cappuccio, Gerarda;
Brunetti‐Pierri, Nicola;
Torun, Deniz;
Arslan, Mutluay;
Lauridsen, Mathilde F.

Publication type:

Article

A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 32, doi. 10.1111/cge.14027

By:

Douzgou, Sofia;
Rawson, Myfanwy;
Baselga, Eulalia;
Danielpour, Moise;
Faivre, Laurence;
Kashanian, Alon;
Keppler‐Noreuil, Kim M.;
Kuentz, Paul;
Mancini, Grazia M. S.;
Maniere, Marie‐Cecile;
Martinez‐Glez, Victor;
Parker, Victoria E.;
Semple, Robert K.;
Srivastava, Siddharth;
Vabres, Pierre;
De Wit, Marie‐Claire Y.;
Graham, John M.;
Clayton‐Smith, Jill;
Mirzaa, Ghayda M.;
Biesecker, Leslie G.

Publication type:

Article

Case Report of Friedreich's Ataxia and ALG1‐Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63890

By:

Quinlan, Aisling;
Rodan, Lance;
Barkoudah, Elizabeth;
Tam, Amy;
Saffari, Afshin;
Shammas, Ibrahim;
Ranatunga, Wasantha;
Morava‐Kozicz, Eva;
Oglesbee, Devin;
Berry, Gerald;
Ebrahimi‐Fakhari, Darius;
Srivastava, Siddharth

Publication type:

Article

Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63872

By:

Gluckman, Jake;
Levy, Tess;
Friedman, Kate;
Garces, Francesca;
Filip‐Dhima, Rajna;
Quinlan, Aisling;
Iannotti, Isabelle;
Pekar, Margaret;
Hernandez, Alexandra Lopez;
Nava, Madison T.;
Kravets, Elijah;
Siegel, Abigail;
Bernstein, Jonathan A.;
Berry‐Kravis, Elizabeth;
Powell, Craig M.;
Soorya, Latha Valluripalli;
Thurm, Audrey;
Srivastava, Siddharth;
Buxbaum, Joseph D.;
Sahin, Mustafa

Publication type:

Article

Updated consensus guidelines on the management of Phelan–McDermid syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312

By:

Srivastava, Siddharth;
Sahin, Mustafa;
Buxbaum, Joseph D.;
Berry‐Kravis, Elizabeth;
Soorya, Latha Valluripalli;
Thurm, Audrey;
Bernstein, Jonathan A.;
Asante‐Otoo, Afua;
Bennett, William E.;
Betancur, Catalina;
Brickhouse, Tegwyn H.;
Passos Bueno, Maria Rita;
Chopra, Maya;
Christensen, Celanie K.;
Cully, Jennifer L.;
Dies, Kira;
Friedman, Kate;
Gummere, Brittany;
Holder, J. Lloyd;
Jimenez‐Gomez, Andres

Publication type:

Article

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226

By:

Wojcik, Monica H.;
Srivastava, Siddharth;
Agrawal, Pankaj B.;
Balci, Tugce B.;
Callewaert, Bert;
Calvo, Pier Luigi;
Carli, Diana;
Caudle, Michelle;
Colaiacovo, Samantha;
Cross, Laura;
Demetriou, Kalliope;
Drazba, Katy;
Dutra‐Clarke, Marina;
Edwards, Matthew;
Genetti, Casie A.;
Grange, Dorothy K.;
Hickey, Scott E.;
Isidor, Bertrand;
Küry, Sébastien;
Lachman, Herbert M.

Publication type:

Article

Underrepresentation of the term cerebral palsy in clinical genetics databases.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3555, doi. 10.1002/ajmg.a.62930

By:

Srivastava, Siddharth;
Lewis, Sara A.;
Kruer, Michael C.;
Poduri, Annapurna

Publication type:

Article

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1667, doi. 10.1002/ajmg.a.62673

By:

Lines, Matthew A.;
Goldenberg, Paula;
Wong, Ashley;
Srivastava, Siddharth;
Bayat, Allan;
Hove, Hanne;
Karstensen, Helena Gásdal;
Anyane‐Yeboa, Kwame;
Liao, Jun;
Jiang, Nan;
May, Alison;
Guzman, Edwin;
Morleo, Manuela;
D'Arrigo, Stefano;
Ciaccio, Claudia;
Pantaleoni, Chiara;
Castello, Raffaele;
McKee, Shane;
Ong, Jinfon;
Zibdeh‐Lough, Hana

Publication type:

Article

Intracranial venous malformation masquerading as a meningioma in PI3KCA‐related overgrowth spectrum disorder.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 907, doi. 10.1002/ajmg.a.62570

By:

Filippidis, Aristotelis;
Lidov, Hart;
Al‐Ibraheemi, Alyaa;
See, Alfred P.;
Srivastava, Siddharth;
Orbach, Darren B.;
Fehnel, Katie Pricola

Publication type:

Article

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3401, doi. 10.1002/ajmg.a.62458

By:

Uljarević, Mirko;
Frazier, Thomas W.;
Rached, Gaëlle;
Busch, Robyn M.;
Klaas, Patricia;
Srivastava, Siddharth;
Martinez‐Agosto, Julian A.;
Sahin, Mustafa;
Eng, Charis;
Hardan, Antonio Y.

Publication type:

Article

Expansion of the clinical spectrum associated with AARS2‐related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1556, doi. 10.1002/ajmg.a.61188

By:

Srivastava, Siddharth;
Butala, Ankur;
Mahida, Sonal;
Richter, John;
Mu, Weiyi;
Poretti, Andrea;
Vernon, Hilary;
VanGerpen, Jay;
Atwal, Paldeep S.;
Middlebrooks, Erik H.;
Zee, David S.;
Naidu, SakkuBai

Publication type:

Article