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Select item 89589111.

Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM–URDC (Undiagnosed Rare Disease Clinic) program

Annalise Jacobs, Catherine Burns, Purva Patel, Kayla Treat, Benjamin M. Helm, Erin Conboy, Francesco Vetrini

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006170. doi: 10.1101/mcs.a006170

PMCID:: PMC8958911

Abstract Article PDF–7.8M

Select item 86062102.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

Ikhlas Ben Ayed, Amal Bouzid, Fatma Kammoun, Amal souissi, Olfa Jallouli, Salma Mallouli, Souhir Guidara, Salma Loukil, Hajer Aloulou, Fida Jbeli, Sahar Aouichaoui, Dorra Abid, Fatma Abdelhedi, Chahnez Triki, Hassen Kamoun, Saber Masmoudi

Mol Genet Genomic Med. 2021 Nov; 9(11): e1811. Published online 2021 Sep 22. doi: 10.1002/mgg3.1811

PMCID:: PMC8606210

Abstract Article PDF–1007K

Select item 79183053.

A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant

Tarek El Halabi, Maya Dirani, Mostafa Hotait, Wassim Nasreddine, Ahmad Beydoun

Epilepsia Open. 2021 Mar; 6(1): 73–78. Published online 2021 Jan 7. doi: 10.1002/epi4.12451

PMCID:: PMC7918305

Abstract Article PDF–674K

Select item 69131464.

Three rare disease diagnoses in one patient through exome sequencing

Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, Jennifer L. Kemppainen, Eric W. Klee, Ralitza H. Gavrilova

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004390. doi: 10.1101/mcs.a004390

PMCID:: PMC6913146

Abstract Article PDF–1.1M

Select item 66720265.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200

PMCID:: PMC6672026

Abstract Article PDF–2.7M

Select item 60059626.

Natural history of 39 patients with Achondroplasia

Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Sofia Mizuho Miura Sugayama, Luiz Antonio Nunes de Oliveira, Debora Romeo Bertola, Chong Ae Kim

Clinics (Sao Paulo) 2018; 73: e324. Published online 2018 Jun 19. doi: 10.6061/clinics/2018/e324

PMCID:: PMC6005962

Abstract Article PDF–503K

Select item 59831727.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

Daniel C. Koboldt, Theresa Mihalic Mosher, Benjamin J. Kelly, Emily Sites, Dennis Bartholomew, Scott E. Hickey, Kim McBride, Richard K. Wilson, Peter White

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002410. doi: 10.1101/mcs.a002410

PMCID:: PMC5983172

Abstract Article PDF–1.1M

Select item 59414898.

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake

BMC Med Genomics. 2018; 11: 44. Published online 2018 May 8. doi: 10.1186/s12920-018-0366-6

PMCID:: PMC5941489

Abstract Article PDF–3.2M

Select item 57259619.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly and pigmentary abnormalities

Magalie S. Leduc, Zhiyv Niu, Weimin Bi, Wenmiao Zhu, Irene Miloslavskaya, Theodore Chiang, Haley Streff, John R. Seavitt, Steve Murray, Christine Eng, Audrey Chan, Yaping Yang, Seema R. Lalani

Am J Med Genet A. Author manuscript; available in PMC 2017 Dec 12.

Published in final edited form as: Am J Med Genet A. 2016 Aug; 170(8): 2206–2211. Published online 2016 Jun 2. doi: 10.1002/ajmg.a.37780

PMCID:: PMC5725961

Abstract Article PDF–621K

Select item 448087110.

Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?

Małgorzata J.M. Nowaczyk, Brandi A. Thompson, Susan Zeesman, Ute Moog, Pedro A. Sanchez-Lara, Pilar L. Magoulas, Rena E. Falk, Julie Hoover Fong, Denise A.S. Batista, Shivarajan M. Amudhavalli, Sue M. White, Gail E. Graham, Katherine A. Rauen

Clin Genet. Author manuscript; available in PMC 2015 Jun 25.

Published in final edited form as: Clin Genet. 2014 Feb; 85(2): 138–146. Published online 2013 Apr 2. doi: 10.1111/cge.12116

PMCID:: PMC4480871

Abstract Article PDF–485K

Select item 433257611.

Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome

Yavuz Bayram, Davut Pehlivan, Ender Karaca, Tomasz Gambin, Shalini N. Jhangiani, Serkan Erdin, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna Muzny, Baylor-Hopkins Center for Mendelian Genomics, Nursel H. Elcioglu, M. Selman Yildirim, Banu Bozkurt, Ayse Gul Zamani, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2015 Feb 18.

Published in final edited form as: Am J Med Genet A. 2014 Sep; 0(9): 2328–2334. Published online 2014 Jul 14. doi: 10.1002/ajmg.a.36678

PMCID:: PMC4332576

Abstract Article PDF–914K

Select item 398052112.

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Michael J. Parker, Hayley Archer, Helen V. Firth, Soo-Mi Park, Natalie Canham, Susan E. Holder, Meredith Wilson, Anna Hackett, Michael Field, James A.B. Floyd, UK10K Consortium, Matthew Hurles, F. Lucy Raymond

Am J Hum Genet. 2014 Apr 3; 94(4): 618–624. doi: 10.1016/j.ajhg.2014.03.006

PMCID:: PMC3980521

Abstract Article PDF–1.2M

Select item 389684913.

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

Novella Rapini, Roberta Lidano, Silvia Pietrosanti, Giuseppina Vitiello, Chiara Grimaldi, Diana Postorivo, Anna Maria Nardone, Francesca Del Bufalo, Francesco Brancati, Maria Luisa Manca Bitti

Ital J Pediatr. 2014; 40: 5. Published online 2014 Jan 16. doi: 10.1186/1824-7288-40-5

PMCID:: PMC3896849

Abstract Article PDF–1.6M

Select item 315518914.

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. Ruiz-Perez, Sally Ann Lynch, Freddie H. Sharkey, Ann-Charlotte Thuresson, Göran Annerén, Elga F. Belligni, María Luisa Martínez-Fernández, Eva Bermejo, Beata Nowakowska, Anna Kutkowska-Kazmierczak, Ewa Bocian, Ewa Obersztyn, María Luisa Martínez-Frías, Raoul C.M. Hennekam, Pablo Lapunzina

Am J Hum Genet. 2011 Aug 12; 89(2): 295–301. doi: 10.1016/j.ajhg.2011.06.012

PMCID:: PMC3155189

Abstract Article PDF–742K

Select item 312295815.

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report

Ljubica Odak, Ingeborg Barišić, Leona Morožin Pohovski, Mariluce Riegel, Albert Schinzel

Croat Med J. 2011 Jun; 52(3): 415–422. doi: 10.3325/cmj.2011.52.415

PMCID:: PMC3122958

Abstract Article PDF–1.1M

Select item 298659016.

16p subtelomeric duplication: a clinically recognizable syndrome

Maria Cristina Digilio, Laura Bernardini, Anna Capalbo, Rossella Capolino, Maria Giulia Gagliardi, Bruno Marino, Antonio Novelli, Bruno Dallapiccola

Eur J Hum Genet. 2009 Sep; 17(9): 1135–1140. Published online 2009 Mar 18. doi: 10.1038/ejhg.2009.14

PMCID:: PMC2986590

Abstract Article PDF–235K

Select item 287457317.

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH

Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco-Fenzy, Emilie Landais, Bruno Delobel, Sylvie Odent, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse

Am J Med Genet A. Author manuscript; available in PMC 2010 May 26.

Published in final edited form as: Am J Med Genet A. 2009 Dec; 149A(12): 2813–2819. doi: 10.1002/ajmg.a.33097

PMCID:: PMC2874573

Abstract Article

Select item 259799618.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Hiba Risheg, Michael J Friez, P Andrew Futreal, Sarah Edkins, Jon Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, Richard J Simensen, Sumy M Joseph, Julie R Jones, Josef Gecz, Michael R Stratton, F Lucy Raymond, Roger E Stevenson

J Med Genet. 2007 Jul; 44(7): 472–477. Published online 2007 Mar 16. doi: 10.1136/jmg.2006.048637