TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pathology & Immunology
Address6621 FANNIN
Houston, TX 77030
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H, Undiagnosed Diseases Network, Kooy RF, Weckhuysen S. Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. Eur J Hum Genet. 2024 Jul 04. PMID: 38965372.
    2. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M, Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102. PMID: 38431799; PMCID: PMC11161315.
      Citations:    Fields:    Translation:Humans
    3. Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. A familial deletion of 10p12.1 associated with thrombocytopenia. Am J Med Genet A. 2024 Jan; 194(1):77-81. PMID: 37746810.
      Citations:    Fields:    Translation:Humans
    4. El Achi D, Brown A, Huguenard S, Khan S, Streff H, Nassef S. Perceived impact of ethnocultural competency training on genetic counselors' clinical interactions. J Genet Couns. 2024 Jun; 33(3):605-614. PMID: 37563805.
      Citations:    Fields:    
    5. Kumar RD, Saba LF, Streff H, Shaw CA, Mizerik E, Snyder MT, Lopez-Terrada D, Scull J. Clinical genome sequencing: Three years' experience at a tertiary children's hospital. Genet Med. 2023 10; 25(10):100916. PMID: 37334785.
      Citations:    Fields:    Translation:Humans
    6. Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 04 11; 14(1):2026. PMID: 37041148; PMCID: PMC10090152.
      Citations:    Fields:    Translation:Animals
    7. Tamma PL, Streff H, Murali CN. A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome. Am J Med Genet A. 2023 06; 191(6):1576-1580. PMID: 36843287.
      Citations:    Fields:    Translation:Humans
    8. Stefka J, Streff H, Liu P, Towne M, Smith HS. Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories. Genet Med. 2023 05; 25(5):100818. PMID: 36852743.
      Citations:    Fields:    Translation:Humans
    9. Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372. PMID: 36751706.
      Citations:    Fields:    Translation:Humans
    10. Streff H, Uhles CL, Fisher H, Franciskovich R, Littlejohn RO, Gerard A, Hudnall J, Smith HS. Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. Genet Med. 2023 03; 25(3):100350. PMID: 36547467.
      Citations: 1     Fields:    Translation:Humans
    11. Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genet Med. 2022 09; 24(9):1952-1966. PMID: 35916866.
    12. Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Hum Mol Genet. 2022 05 04; 31(9):1430-1442. PMID: 34788807; PMCID: PMC9271223.
      Citations:    Fields:    Translation:AnimalsCells
    13. Chen CA, Lattier J, Zhu W, Rosenfeld J, Wang L, Scott TM, Du H, Patel V, Dang A, Magoulas P, Streff H, Sebastian J, Svihovec S, Curry K, Delgado MR, Hanchard NA, Lalani S, Marom R, Madan-Khetarpal S, Saenz M, Dai H, Meng L, Xia F, Bi W, Liu P, Posey JE, Scott DA, Lupski JR, Eng CM, Xiao R, Yuan B. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373. PMID: 34906496; PMCID: PMC8957292.
      Citations:    Fields:    Translation:Humans
    14. Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Undiagnosed Diseases Network, DDD Study, Bi W. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233. PMID: 33963760.
      Citations: 1     Fields:    Translation:Humans
    15. Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Haynes D, Hoganson G, Kaname T, Kosaki K, Kubota K, Lemons JM, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB, Baxov? A, Bendov? ?, Hanc?rov? M, Heide S, Keren B, Magri?a MA, Sedl?cek Z, Wiesener A, Zweier C. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021 07; 23(7):1234-1245. PMID: 33824499.
      Citations: 2     Fields:    Translation:HumansAnimals
    16. Rossi JJ, Rosenfeld JA, Chan KM, Streff H, Nankivell V, Peet DJ, Whitelaw ML, Bersten DC. Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders. Sci Rep. 2021 03 23; 11(1):6602. PMID: 33758288; PMCID: PMC7987981.
      Citations: 1     Fields:    Translation:HumansCells
    17. Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021; 9:631428. PMID: 33748114; PMCID: PMC7965969.
    18. Smith HS, Franciskovich R, Lewis AM, Gerard A, Littlejohn RO, Nugent K, Rodriguez J, Streff H. Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics. Genet Med. 2021 05; 23(5):950-955. PMID: 33473204.
      Citations: 2     Fields:    Translation:Humans
    19. Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Undiagnosed Diseases Network, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. PMID: 32693025; PMCID: PMC7413887.
      Citations: 21     Fields:    Translation:Humans
    20. Turner AE, Abu-Ghname A, Davis MJ, Shih L, Volk AS, Streff H, Buchanan EP. Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis. J Craniofac Surg. 2020 Jul-Aug; 31(5):e471-e475. PMID: 32310878.
      Citations: 1     Fields:    Translation:Humans
    21. Bacino CA, Chassevent A, Dameron A, Hanchard NA, Mahida S, McWalter K, Streff H, Weiss MM, Zapata G, Zwijnenburg PJG, Asselin L, Rivera Alvarez J, Heide S, Bonnet CS, Tilly P, Vitet H, Weber C, Barana?o K, Faivre L, Mignot C, Nava C, Rastetter A, Thauvin-Robinet C, Saudou F, Depienne C, Golzio C, H?ron D, Godin JD. Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nat Commun. 2020 05 15; 11(1):2441. PMID: 32415109; PMCID: PMC7229210.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    22. Streff H, Posey JE, Mauer CB, Krempely K, Potocki L, Northrup H. TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family. Pediatr Neurol. 2020 09; 110:89-91. PMID: 32654957.
      Citations: 1     Fields:    Translation:Humans
    23. Streff HE, Gao Y, Nelson SW. Functional evaluation of the C-terminal region of bacteriophage T4 Rad50. Biochem Biophys Res Commun. 2020 05 28; 526(2):485-490. PMID: 32238267.
      Citations:    Fields:    Translation:Cells
    24. Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925. PMID: 31999386; PMCID: PMC7262739.
      Citations: 6     Fields:    Translation:Humans
    25. Tessadori F, Rehman AU, Giltay JC, Xia F, Streff H, Duran K, Bakkers J, Lalani SR, van Haaften G. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder. Eur J Hum Genet. 2020 05; 28(5):674-678. PMID: 31804630; PMCID: PMC7171094.
      Citations: 4     Fields:    Translation:HumansAnimals
    26. Sliepka JM, McGriff SC, Rossetti LZ, Bizargity P, Streff H, Lee YS, Dai H, Polubothu S, Lee G, Ren V, Hunter JV, Curry DJ, Scaglia F, Adesina AM, Ali I, Kinsler V, Burrage LC, Marafi D. GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis. Neurol Genet. 2019 Dec; 5(6):e366. PMID: 31872050; PMCID: PMC6878837.
      Citations: 1     
    27. Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cunningham M, Delatycki MB, Dosa L, Esposito S, Freckmann ML, Fauth C, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Panzer K, Pappas JG, Pierpont ME, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Wimmer K, De Luca A, Legius E, Messiaen LM, Cort?s FM, D'Agostino MD, Digilio MC, Fox S, Giugliano T, Hern?ndez-Chico C, Ortenberg J, Piluso G, Santoro C, Martin Y. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315. PMID: 31595648; PMCID: PMC6973139.
      Citations: 27     Fields:    Translation:Humans
    28. Van Dijck A, Coluzzi E, Catanzaro G, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Petrucci S, De Luca A, Ferretti E, Matullo G, Sgura A, Walkiewicz M, Kooy RF, Flex E, Martinelli S, Ciolfi A, Cecchetti S, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Pedace L, Miele E, Carcarino E, ?unap K, Bertini E, Rota R, Dallapiccola B, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 09 05; 105(3):493-508. PMID: 31447100; PMCID: PMC6731364.
      Citations: 20     Fields:    Translation:HumansCells
    29. Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Am J Med Genet A. 2019 10; 179(10):2138-2143. PMID: 31290619.
      Citations: 5     Fields:    Translation:HumansCells
    30. Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480. PMID: 31216405; PMCID: PMC6934160.
      Citations: 63     Fields:    Translation:Humans
    31. Schultz KP, Wiggins CJ, Streff H, Shah VS, Buchanan EP. Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. Cleft Palate Craniofac J. 2019 07; 56(6):823-826. PMID: 30585077.
      Citations: 1     Fields:    Translation:Humans
    32. Streff H, Bi W, Adesina AM, Miyake CY, Lalani SR, Col?n AG. Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet. 2019 Nov; 62(11):103567. PMID: 30395933; PMCID: PMC7237049.
      Citations: 2     Fields:    Translation:Humans
    33. Petersen AK, Streff H, Tokita M, Bostwick BL. The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. Am J Med Genet A. 2018 07; 176(7):1667-1669. PMID: 29740950.
      Citations: 6     Fields:    Translation:Humans
    34. Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May; 137(5):375-388. PMID: 29740699; PMCID: PMC5973976.
      Citations: 14     Fields:    Translation:HumansCells
    35. Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Bacino CA, Xiao R, Breman AM, Smith JL, Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Davis EE, Yang Y, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Hoyer J, Zweier C, Reis A, Popp B. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515. PMID: 28942966; PMCID: PMC5630163.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    36. Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73. PMID: 28807008; PMCID: PMC5557075.
      Citations: 18     Fields:    Translation:Humans
    37. Streff H, Profato J, Ye Y, Nebgen D, Peterson SK, Singletary C, Arun BK, Litton JK. Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers. Oncologist. 2016 07; 21(7):869-74. PMID: 27306910; PMCID: PMC4943383.
      Citations: 21     Fields:    Translation:Humans
    38. Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 08; 170(8):2206-11. PMID: 27250922; PMCID: PMC5725961.
      Citations: 6     Fields:    Translation:Humans
    39. Rosenfeld JA, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Isidor B, K?ry S, Besnard T, Schmitt S, Latypova X, Le Caignec C, Cogn? B, Mercier S, Vincent M, Colin E, Bonneau D, Denomm? AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, B?zieau S. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat. 2016 Apr; 37(4):354-8. PMID: 26751395.
      Citations: 20     Fields:    Translation:Humans
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