Talkowski, Michael E.: search on Z-Library

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1

An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and Cancer

Wu, Lianfeng, Zhou, Ben, Oshiro-Rapley, Noriko, Li, Man, Paulo, Joao A., Webster, Christopher M., Mou, Fan, Kacergis, Michael C., Talkowski, Michael E., Carr, Christopher E., Gygi, Steven P., Zheng, B

Journal:

Year:

2016

Language:

english

File:

PDF, 4.87 MB

english, 2016

2

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders

Moyses-Oliveira, Mariana, Yadav, Rachita, Erdin, Serkan, Talkowski, Michael E

Journal:

Current Opinion in Genetics & Development

Year:

2020

File:

PDF, 2.26 MB

2020

3

Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing

Veres, Adrian, Gosis, Bridget S., Ding, Qiurong, Collins, Ryan, Ragavendran, Ashok, Brand, Harrison, Erdin, Serkan, Cowan, Chad A., Talkowski, Michael E., Musunuru, Kiran

Journal:

Year:

2014

Language:

english

File:

PDF, 14.33 MB

english, 2014

4

Mechanisms for Structural Variation in the Human Genome

Currall, Benjamin B., Chiangmai, Colby, Talkowski, Michael E., Morton, Cynthia C.

Journal:

Current Genetic Medicine Reports

Year:

2013

Language:

english

File:

PDF, 365 KB

english, 2013

5

Cognitive influences in postural control of patients with unilateral vestibular loss

Mark S. Redfern, Michael E. Talkowski, J.Richard Jennings, Joseph M. Furman

Journal:

Year:

2004

Language:

english

File:

PDF, 255 KB

english, 2004

6

Mosaic copy number variation in schizophrenia

Ruderfer, Douglas M, Chambert, Kim, Moran, Jennifer, Talkowski, Michael, Chen, Elizabeth S, Gigek, Carolina, Gusella, James F, Blackwood, Douglas H, Corvin, Aiden, Gurling, Hugh M, Hultman, Christina

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 431 KB

english, 2013

7

TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling

Martin, Pauline, Wagh, Vilas, Reis, Surya A., Erdin, Serkan, Beauchamp, Roberta L., Shaikh, Ghalib, Talkowski, Michael, Thiele, Elizabeth, Sheridan, Steven D., Haggarty, Stephen J., Ramesh, Vijaya

Journal:

Molecular Autism

Year:

2020

Language:

english

File:

PDF, 3.76 MB

english, 2020

8

Consanguinity associated with increased risk for bipolar I disorder in Egypt

Hader Mansour, Lambertus Klei, Joel Wood, Michael Talkowski, Kodavali Chowdari, Warda Fathi, Ahmed Eissa, Amal Yassin, Hala Salah, Salwa Tobar, Hala El-Boraie, Hanan Gaafar, Mai Elassy, Nahed E. Ibrah

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 129 KB

english, 2009

9

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

Michael E. Talkowski, Lora McClain, Trina Allen, L. DiAnne Bradford, Monica Calkins, Neil Edwards, Lyudmila Georgieva, Rodney Go, Ruben Gur, Raquel Gur, George Kirov, Kodavali Chowdari, Joseph Kwentus

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 229 KB

english, 2009

10

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

Michael E. Talkowski, Carl Ernst, Adrian Heilbut, Colby Chiang, Carrie Hanscom, Amelia Lindgren, Andrew Kirby, Shangtao Liu, Bhavana Muddukrishna, Toshiro K. Ohsumi, Yiping Shen, Mark Borowsky, Mark J

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1017 KB

english, 2011

11

Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

Ordulu, Zehra, Wong, Kristen E., Currall, Benjamin B., Ivanov, Andrew R., Pereira, Shahrin, Althari, Sara, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 3.56 MB

english, 2014

12

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

13

Mutations in DCHS1 cause mitral valve prolapse

Durst, Ronen, Sauls, Kimberly, Peal, David S., deVlaming, Annemarieke, Toomer, Katelynn, Leyne, Maire, Salani, Monica, Talkowski, Michael E., Brand, Harrison, Perrocheau, Maëlle, Simpson, Charles, Jet

Journal:

Year:

2015

Language:

english

File:

PDF, 3.47 MB

english, 2015

14

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis

Mukherjee, Kusumika, Ishii, Kana, Pillalamarri, Vamsee, Kammin, Tammy, Atkin, Joan F., Hickey, Scott E., Xi, Qiongchao J., Zepeda, Cinthya J., Gusella, James F., Talkowski, Michael E., Morton, Cynthia

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.37 MB

english, 2016

15

Evaluation of a Susceptibility Gene for Schizophrenia: Genotype Based Meta-Analysis of RGS4 Polymorphisms from Thirteen Independent Samples

Michael E. Talkowski, Howard Seltman, Anne S. Bassett, Linda M. Brzustowicz, Xiangning Chen, Kodavali V. Chowdari, David A. Collier, Quirino Cordeiro, Aiden P. Corvin, Smita N. Deshpande, Michael F. E

Journal:

Biological Psychiatry

Year:

2006

Language:

english

File:

PDF, 273 KB

english, 2006

16

Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs

Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 400 KB

english, 2013

17

Abstract 74

Mukherjee, Kusumika, Ishii, Kanaa, Grimaldi, Michael J., Nguyen, Christina, Talkowski, Michael, Gusella, James, Maas, Richard, Morton, Cynthia C., Liao, Eric C.

Journal:

Plastic & Reconstructive Surgery

Year:

2015

Language:

english

File:

PDF, 255 KB

english, 2015

18

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah

Journal:

Year:

2012

Language:

english

File:

PDF, 475 KB

english, 2012

19

Pain correlates with germline mutation in schwannomatosis

Jordan, Justin T., Smith, Miriam J., Walker, James A., Erdin, Serkan, Talkowski, Michael E., Merker, Vanessa L., Ramesh, Vijaya, Cai, Wenli, Harris, Gordon J., Bredella, Miriam A., Seijo, Marlon, Suub

Journal:

Medicine (Medicine Publishing Company Ltd)

Year:

2018

Language:

english

File:

PDF, 323 KB

english, 2018

20

29 BRAINVAR DATA SET: WHOLE-GENOME AND RNA SEQUENCING REVEAL VARIATION AND TRANSCRIPTOMIC COORDINATION IN THE DEVELOPING HUMAN PREFRONTAL CORTEX

Werling, Donna, Pochareddy, Sirisha, Choi, Jinmyung, An, Joon-Yong, Sheppard, Brooke, Peng, Minshi, Santpere, Gabriel, Gulden, Forrest, Breen, Michael, Talkowski, Michael, Roeder, Kathryn, State, Matt

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 76 KB

english, 2019

21

Erratum to: Mechanisms for Structural Variation in the Human Genome

Benjamin B. Currall, Colby Chiang, Michael E. Talkowski…

Journal:

Current Genetic Medicine Reports

Year:

2013

Language:

english

File:

PDF, 107 KB

english, 2013

22

Serotonin gene polymorphisms and bipolar I disorder: Focus on the serotonin transporter

Mansour, Hader A., Talkowski, Michael E., Wood, Joel, Pless, Lora, Bamne, Mikhil, Chowdari, Kodavali V., Allen, Michael, Bowden, Charles L., Calabrese, Joseph, El‐Mallakh, Rif S., Fagiolini, Andrea, F

Journal:

Annals of Medicine

Year:

2005

Language:

english

File:

PDF, 324 KB

english, 2005

23

Role of the Chromosome Architectural Factor SMCHD1 in X Chromosome Inactivation, Gene Regulation, and Disease in Humans

Wang, Chen-Yu, Brand, Harrison, Shaw, Natalie D., Talkowski, Michael E., Lee, Jeannie T.

Journal:

Year:

2019

Language:

english

File:

PDF, 8.28 MB

english, 2019

24

Genetic associations between neuregulin-1 SNPs and neurocognitive function in multigenerational, multiplex schizophrenia families

Yokley, Jessica L., Prasad, Konasale M., Chowdari, Kodavali V., Talkowski, Michael E., Wood, Joel, Gur, Ruben C., Gur, Raquel E., Almasy, Laura, Nimgaonkar, Vishwajit L., Pogue-Geile, Michael F.

Journal:

Psychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 328 KB

english, 2012

25

Autism Spectrum Disorder Genetics

Talkowski, Michael E., Minikel, Eric Vallabh, Gusella, James F.

Journal:

Harvard Review of Psychiatry

Year:

2014

Language:

english

File:

PDF, 789 KB

english, 2014

26

Reply

Michael E. Talkowski, Bernie Devlin, Vishwajit L. Nimgaonkar, Hader Mansour, Kodavali V. Chowdari, Joel Wood

Journal:

Biological Psychiatry

Year:

2008

Language:

english

File:

PDF, 98 KB

english, 2008

27

A novel microduplication of ARID1B : Clinical, genetic, and proteomic findings

Seabra, Catarina M., Szoko, Nicholas, Erdin, Serkan, Ragavendran, Ashok, Stortchevoi, Alexei, Maciel, Patrícia, Lundberg, Kathleen, Schlatzer, Daniela, Smith, Janice, Talkowski, Michael E., Gusella, J

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 706 KB

english, 2017

28

Fine-mapping reveals novel alternative splicing of the dopamine transporter

Michael E. Talkowski, Kathleen L. McCann, Michael Chen, Lora McClain, Mikhil Bamne, Joel Wood, Kodavali V. Chowdari, Annie Watson, Konasale M. Prasad, George Kirov, Lyudmilla Georgieva, Draga Toncheva

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 489 KB

english, 2010

29

An eMERGE Clinical Center at Partners Personalized Medicine

Smoller, Jordan, Karlson, Elizabeth, Green, Robert, Kathiresan, Sekar, MacArthur, Daniel, Talkowski, Michael, Murphy, Shawn, Weiss, Scott

Journal:

Journal of Personalized Medicine

Year:

2016

Language:

english

File:

PDF, 442 KB

english, 2016

30

THE LANDSCAPE OF STRUCTURAL VARIATION ACROSS DIVERSE POPULATIONS AND NEURODEVELOPMENTAL PHENOTYPES

Talkowski, Michael

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 47 KB

english, 2019

31

Indexcov: fast coverage quality control for whole-genome sequencing

Pedersen, Brent S, Collins, Ryan L, Talkowski, Michael E, Quinlan, Aaron R

Journal:

Year:

2017

Language:

english

File:

PDF, 4.79 MB

english, 2017

32

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

Loh, Po-Ru, Genovese, Giulio, Handsaker, Robert E., Finucane, Hilary K., Reshef, Yakir A., Palamara, Pier Francesco, Birmann, Brenda M., Talkowski, Michael E., Bakhoum, Samuel F., McCarroll, Steven A.

Journal:

Year:

2018

Language:

english

File:

PDF, 4.60 MB

english, 2018

33

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, J

Journal:

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

34

Patient Participation and Physical Activity During Rehabilitation and Future Functional Outcomes in Patients After Hip Fracture

Jaime B. Talkowski, Eric J. Lenze, Michael C. Munin, Chris Harrison, Jennifer S. Brach

Journal:

Archives of Physical Medicine and Rehabilitation

Year:

2009

Language:

english

File:

PDF, 217 KB

english, 2009

35

Introduction of genomics into prenatal diagnostics

Talkowski, Michael E, Rehm, Heidi L

Journal:

Lancet (London, England)

Year:

2019

Language:

english

File:

PDF, 212 KB

english, 2019

36

The cell adhesion genePVRL3is associated with congenital ocular defects

Salil A. Lachke, Anne W. Higgins, Maiko Inagaki, Irfan Saadi, Qiongchao Xi, Michelle Long, Bradley J. Quade, Michael E. Talkowski, James F. Gusella, Atsuko Fujimoto, Michael L. Robinson, Ying Yang, Qu

Journal:

Year:

2012

Language:

english

File:

PDF, 1.35 MB

english, 2012

37

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Talkowski, Michael E., Ordulu, Zehra, Pillalamarri, Vamsee, Benson, Carol B., Blumenthal, Ian, Connolly, Susan, Hanscom, Carrie, Hussain, Naveed, Pereira, Shahrin, Picker, Jonathan, Rosenfeld, Jill A.

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 1.20 MB

english, 2012

38

Novel, Replicated Associations Between Dopamine D3 Receptor Gene Polymorphisms and Schizophrenia in Two Independent Samples

Michael E. Talkowski, Hader Mansour, Kodavali V. Chowdari, Joel Wood, Allison Butler, Panchami G. Varma, Suman Prasad, Prachi Semwal, Triptish Bhatia, Smita Deshpande, Bernie Devlin, B.K. Thelma, Vish

Journal:

Biological Psychiatry

Year:

2006

Language:

english

File:

PDF, 322 KB

english, 2006

39

Haploinsufficiency ofKDM6Ais associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom…

Journal:

Year:

2013

Language:

english

File:

PDF, 810 KB

english, 2013

40

Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia

Hader A Mansour, Michael E Talkowski, Joel Wood, Kodavali V Chowdari, Lora McClain, Konasale Prasad, Debra Montrose, Andrea Fagiolini, Edward S Friedman, Michael H Allen, Charles L Bowden, Joseph Cala

Journal:

Bipolar Disorders

Year:

2009

Language:

english

File:

PDF, 165 KB

english, 2009

41

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena A. Repnikova, Julie Gastier-Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colb

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 905 KB

english, 2011

42

A comprehensive genetic association and functional study of TNF in schizophrenia risk

Brian H. Shirts, Mikhil Bamne, Jung Jin Kim, Michael Talkowski, Joel Wood, Robert Yolken, Vishwajit L. Nimgaonkar

Journal:

Schizophrenia Research

Year:

2006

Language:

english

File:

PDF, 114 KB

english, 2006

43

Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing

Veres, Adrian, Gosis, Bridget S., Ding, Qiurong, Collins, Ryan, Ragavendran, Ashok, Brand, Harrison, Erdin, Serkan, Cowan, Chad A., Talkowski, Michael E., Musunuru, Kiran

Journal:

Year:

2014

Language:

english

File:

PDF, 97 KB

english, 2014

44

INSIGHTS INTO THE CONTRIBUTION OF RARE NONCODING VARIATION IN AUTISM SPECTRUM DISORDER THROUGH FAMILY-BASED WHOLE-GENOME SEQUENCING

An, Joon-Yong, Lin, Kevin, Zhu, Lingxue, Werling, Donna, Dong, Shan, Brand, Harrison, Wang, Harold, Zhao, Xuefang, Sestan, Nenad, State, Matthew, Willsey, Jeremy, Talkowski, Michael, Devlin, Bernie, R

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 52 KB

english, 2019

45

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin

Zepeda-Mendoza, Cinthya J., Bardon, Alexandra, Kammin, Tammy, Harris, David J., Cox, Helen, Redin, Claire, Ordulu, Zehra, Talkowski, Michael E., Morton, Cynthia C.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 903 KB

english, 2018

46

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Hyung-Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas Ruderfer, Ji-Hyun Lee, C

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.54 MB

english, 2012

47

Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

Michael E. Talkowski, Gilles Maussion, Liam Crapper, Jill A. Rosenfeld, Ian Blumenthal, Carrie Hanscom, Colby Chiang, Amelia Lindgren, Shahrin Pereira, Douglas Ruderfer, Alpha B. Diallo, Juan Pablo Lo

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 617 KB

english, 2012

48

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

Schilit, Samantha L.P., Menon, Shreya, Friedrich, Corinna, Kammin, Tammy, Wilch, Ellen, Hanscom, Carrie, Jiang, Sizun, Kliesch, Sabine, Talkowski, Michael E., Tüttelmann, Frank, MacQueen, Amy J., Mort

Journal:

The American Journal of Human Genetics

Year:

2019

File:

PDF, 3.11 MB

2019

49

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas R

Journal:

Year:

2012

Language:

english

File:

PDF, 1.87 MB

english, 2012

50

Abstract 91

Rochard, Lucie J., Li, Edward, Nguyen, Christina, Gusella, James F., Maas, Richard, Morton, Cynthia, Talkowski, Michael, Liao, Eric C.

Journal:

Plastic & Reconstructive Surgery

Year:

2015

Language:

english

File:

PDF, 242 KB

english, 2015

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