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Pediatrics, ISSN 0031-4005, 11/2014, Volume 134, Issue 5, pp. 995 - 1005
Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism... 
Sleep | Strabismus | Growth | Otitis media | Fragile X syndrome | Review | Gastrointestinal | Seizures | PARENT SURVEY | MENTAL-RETARDATION | otitis media | fragile X syndrome | STATUS EPILEPTICUS | MITRAL-VALVE-PROLAPSE | gastrointestinal | sleep | INTELLECTUAL DISABILITY | RECURRENT OTITIS-MEDIA | PRESCHOOL-AGE CHILDREN | strabismus | review | MARTIN-BELL SYNDROME | seizures | TYPICAL DEVELOPMENT | PEDIATRICS | growth | SLEEP PROBLEMS | Child Development Disorders, Pervasive - epidemiology | Gastrointestinal Diseases - epidemiology | Gastrointestinal Diseases - psychology | Humans | Seizures - diagnosis | Gastrointestinal Diseases - diagnosis | Nervous System Malformations - epidemiology | Heart Diseases - diagnosis | Heart Diseases - psychology | Child Development Disorders, Pervasive - psychology | Heart Diseases - epidemiology | Fragile X Syndrome - psychology | Seizures - epidemiology | Child Development Disorders, Pervasive - diagnosis | Nervous System Malformations - diagnosis | Quality of Life - psychology | Nervous System Malformations - psychology | Fragile X Syndrome - diagnosis | Fragile X Syndrome - epidemiology | Seizures - psychology | Complications and side effects | Care and treatment | Gastrointestinal diseases | Diagnosis | Risk factors | Autism | Pediatrics | Genetic disorders | Data collection | Systematic review | Sampling | Children & youth
Journal Article
Journal Article
by Bhatia, Aashim and Mobley, Bret C and Cogan, Joy and Koziura, Mary E and Brokamp, Elly and Phillips, John and Newman, John and Moore, Steven A and Hamid, Rizwan and Acosta, Maria T and Adams, David R and Agrawal, Pankaj and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin and Andrews, Ashley and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean-Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Hayes, Nichole and High, Frances and Holm, Ingrid A and Hom, Jason and ... and Undiagnosed Diseases Network (UDN) and Members of the Undiagnosed Diseases Network and UDN
Clinical Imaging, ISSN 0899-7071, 11/2019, Volume 58, pp. 108 - 113
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1366 - 1370
Journal Article
by Holt, JM and Wilk, B and Birch, CL and Brown, DM and Gajapathy, M and Moss, AC and Sosonkina, N and Wilk, MA and Anderson, JA and Harris, JM and Kelly, JM and Shaterferdosian, F and Uno-Antonison, AE and Weborg, A and Worthey, EA and Acosta, MT and Adam, M and Adams, DR and Agrawal, PB and Alejandro, ME and Allard, P and Alvey, J and Amendola, L and Andrews, A and Ashley, EA and Azamian, MS and Bacino, CA and Bademci, G and Baker, E and Balasubramanyam, A and Baldridge, D and Bale, J and Bamshad, M and Barbouth, D and Batzli, GF and Bayrak-Toydemir, P and Beck, A and Beggs, AH and Bejerano, G and Bellen, HJ and Bennet, J and Berg-Rood, B and Bernier, R and Bernstein, JA and Berry, GT and Bican, A and Bivona, S and Blue, E and Bohnsack, J and Bonnenmann, C and Bonner, D and Botto, L and Briere, LC and Brokamp, E and Burke, EA and Burrage, LC and Butte, MJ and Byers, P and Carey, J and Carrasquillo, O and Chang, TCP and Chanprasert, S and Chao, HT and Clark, GD and Coakley, TR and Cobban, LA and Cogan, JD and Cole, FS and Colley, HA and Cooper, CM and Cope, H and Craigen, WJ and Cunningham, M and D'Souza, P and Dai, HZ and Dasari, S and Davids, M and Dayal, JG and Dell'Angelica, EC and Dhar, SU and Dipple, K and Doherty, D and Dorrani, N and Douine, ED and Draper, DD and Duncan, L and Earl, D and Eckstein, DJ and Emrick, LT and Eng, CM and Esteves, C and Estwick, T and Fernandez, L and Ferreira, C and Fieg, EL and Fisher, PG and Fogel, BL and Forghani, I and Fresard, L and Gahl, WA and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
BMC BIOINFORMATICS, ISSN 1471-2105, 10/2019, Volume 20, Issue 1, pp. 1 - 10
Background When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the... 
GUIDELINES | BIOCHEMICAL RESEARCH METHODS | PHENOTYPE | STANDARDS | MEDICAL GENETICS | IDENTIFICATION | RECOMMENDATION | DISCOVERY | PREDICTION | Variant prioritization | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Clinical genome sequencing | ASSOCIATION | Binary classification | DIAGNOSTICS
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 02/2018, Volume 68, pp. 211 - 217
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 06/2017, Volume 6, Issue 2, pp. 115 - 117
Abstract Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in... 
Case Report | Klinefelter syndrome | congenital diaphragmatic hernia | tetralogy of Fallot
Journal Article
by Johnson, Brett V and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Grønborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A and VanHasselt, Peter M and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Pena, Loren and Shashi, Vandana and Schoch, Kelly and Sullivan, Jennifer A and Acosta, Maria T and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Barbouth, Deborah and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carrasquillo, Olveen and Peter Chang, Ta Chen and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and ... and Undiagnosed Diseases Network and Undiagnosed Dis Network
Biological Psychiatry, ISSN 0006-3223, 01/2020, Volume 87, Issue 2, pp. 100 - 112
The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X... 
Brain malformation | TGFβ | Neurodevelopmental disorder | USP9X | Hippocampus | Deubiquitylating enzyme | yes | DEUBIQUITINATING ENZYME | PHENOTYPE | OF-FUNCTION MUTATIONS | NEUROSCIENCES | LIQUID FACETS | INTELLECTUAL DISABILITY | IN-VITRO | CELL-MIGRATION | INTERACTS | TGF beta | FAM/USP9X
Journal Article