Newborn Screening Experience for Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait

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eP028_Karthik_Muthusamy PDF

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eP042_Yu-Wei_Cheng PDF

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eP047_Devin_Hunt PDF

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eP050_Emily_Kudalkar PDF

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eP062_Xia_Wang PDF

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eP064_Jacquelyn_Mahder PDF

eP065_Carter_Wright PDF

eP066_Aya_Abu-El-Haija PDF

eP067_Noura_Abul-Husn PDF

eP068_Elizabeth_Jalazo PDF

eP069_Fizza_Akbar PDF

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eP071_Ebba_Alkhunaizi PDF

eP072_Ebba_Alkhunaizi PDF

eP073_Noor_Almoosawy PDF

eP074_Adnan_Alsadah PDF

eP075_Zineb_Ammous PDF

eP076_Rhonda_Anderson PDF

eP077_Ben_Apple PDF

eP078_Elizabeth_Baker PDF

eP079_Caitlin_Baptiste PDF

eP080_Lauren_Bartik PDF

eP081_M. Makenzie_Beaman PDF

eP082_Emma_Bedoukian PDF

eP083_Breanna_Beers PDF

eP085_Nicole_Bertsch PDF

eP086_Eric_Rush PDF

eP087_Markey_McNutt PDF

eP088_Christina_Botti PDF

eP089_Michaela_Brooks PDF

eP090_Lindsay_Burrage PDF

eP091_Lauren_Carter PDF

eP092_Jennifer_Cassady PDF

eP093_Joana_Catanho PDF

eP094_Bharatendu_Chandra PDF

eP095_Bharatendu_Chandra PDF

eP096_Lakshita_Chauhan PDF

eP097_Wei-Liang_Chen PDF

eP098_Wei-Liang_Chen PDF

eP101_Fuad_Chowdhury PDF

eP103_Stacey_Cole PDF

eP104_Laila_Mahmoud PDF

eP105_Revital_Kariv PDF

eP106_Anjali_Aggarwal PDF

eP107_Francisco_De La Vega PDF

eP108_Laurie_Demmer PDF

eP109_Aslihan_Dincer PDF

eP111_Julia_Hara PDF

eP112_Sara_Worrill PDF

eP113_Bethany_Dubois PDF

eP114_Leslie_Dunnington PDF

eP115_Leslie_Dunnington PDF

eP116_Aradhana_Dwivedi PDF

eP117_Saad_Ehsan PDF

eP118_Lindsey_Elmore PDF

eP119_Edward_Esplin PDF

eP120_Laura_Farach PDF

eP121_Pamela_Feliciano PDF

eP122_Stephanie_Felker PDF

eP123_Maria_Scimia PDF

eP124_Jill_Garrison PDF

eP125_Patrick_Kleyn PDF

eP126_Ida_Moeller PDF

eP127_Anusha_Gandhi PDF

eP128_Ria_Garg PDF

eP129_Gabrielle_Geddes PDF

eP130_Gabrielle_Geddes PDF

eP131_Olivia_Gittens PDF

eP132_Yoel_Gofin PDF

eP133_Rachel_Gore PDF

eP134_Shen_Gu PDF

eP136_Mary_Hamzik PDF

eP137_William_Hankey PDF

eP138_John_Harting PDF

eP139_Priya_Hays PDF

eP140_Jason_Cataldo PDF

eP141_Susan_Hiatt PDF

eP142_Kathleen_Hibbs PDF

eP143_Rachel_Hickey PDF

eP144_James_Holt PDF

eP145_Shannon_Holtrop PDF

eP146_Rai-Hseng_Hsu PDF

eP148_John_Bernat PDF

eP149_John_Bernat PDF

eP150_Kiely_James PDF

eP151_Alexander_Jorge PDF

eP152_Merin_Jose PDF

eP153_Meenakshisundaram_Karthikeyan PDF

eP154_Alexander_Katz PDF

eP155_Jennifer_Kemppainen PDF

eP156_Carole_A Sprouse PDF

eP157_Priya_Kishnani PDF

eP158_Eric_Klee PDF

eP159_Dorsa_Kord PDF

eP160_Joanne_Kotsopoulos PDF

eP161_Theresa_Kowalski PDF

eP162_Kristen_Lancaster PDF

eP163_Elizabeth_Langley PDF

eP164_Marissa_Ledger PDF

eP165_Kathryn_Ray PDF

eP166_Roberto_Guigliani PDF

eP167_Jill_Mayhew PDF

eP168_Paul_Lee Audio

eP169_Susana_Lemos Ferreira PDF

eP171_Timothy_Lequang PDF

eP172_Timothy_Lequang PDF

eP173_Gabrielle_DiBartolomeo PDF

eP174_Julie_Li PDF

eP175_Angela_Lin PDF

eP176_Rachel_Logan PDF

eP178_Georgia_Loucopoulos PDF

eP179_Alan_Lu PDF

eP180_Tianyuan_Lu PDF

eP181_Danielle_Luz PDF

eP182_Gholson_Lyon PDF

eP183_Erica_Macke PDF

eP184_Lauren_Major PDF

eP185_Elizaveta_Makarova PDF

eP186_Shivarajan_Manickavasagam Amudhavalli PDF

eP187_Kriti_Bagri Manjrekar PDF

eP188_Ajay_Mehta PDF

eP189_Mafalda_Melo PDF

eP190_Dana_Miller PDF

eP191_Monique_Morrison PDF

eP192_Kizito_Mosema PDF

eP193_David_Cook PDF

eP194_Kate_Mowrey PDF

eP195_Stephen_Kaler PDF

eP196_Amanda_Nagy PDF

eP197_Dhanya Lakshmi_Narayanan PDF

eP198_Elena-Raluca_Nicoli PDF

eP200_Elizabeth_Null PDF

eP201_Erin_O’Rourke PDF

eP202_Laura_Owczarzak PDF

eP203_Joshua_Owens PDF

eP204_Ravi_Savarirayan PDF

eP205_Amy_Pan PDF

eP206_John_Pappas PDF

eP207_Melissa_Parisi PDF

eP208_Anna_Paschall PDF

eP209_Abdulrazak_Alali PDF

eP210_Sofia_Pérez PDF

eP211_Andrea_Petersen PDF

eP212_Erin_O’Rourke PDF

eP213_Erin_O’Rourke PDF

eP214_Jariselle_Pietri Toro PDF

eP215_Nishitha_Pillai PDF

eP217_Amanda_Pritchard PDF

eP218_Rebecca_Procopio PDF

eP219_Apostolos_Psychogios PDF

eP220_Rachel_Rabin PDF

eP221_Leah_Ragno PDF

eP222_Vanessa_Rangel Miller PDF

eP223_Jill_Rosenfeld PDF

eP224_Linda_Rossetti PDF

eP226_Roa_Sadat PDF

eP227_Haleema_Saeed PDF

eP228_Ileana_Salcedo PDF

eP229_Rihab_Salih PDF

eP230_Carole_Samango-Sprouse PDF

eP231_Christopher_Santilli PDF

eP233_Robert_Schuetz PDF

eP234_Bryce_Schuler PDF

eP235_Judith_Miller PDF

eP236_Monisha_Sebastin PDF

eP237_Katelyn_Seither PDF

eP239_Go Hun_Seo PDF

eP240_Michelle_Sergi PDF

eP241_Zohra_Shad PDF

eP242_Ashima_Sharma PDF

eP243_Matthew_Shear PDF

eP244_Charlotte_Sherlaw-Sturrock PDF

eP245_Perry_Shieh PDF

eP246_Kathleen_Shields PDF

eP247_Plamena_Simeonova PDF

eP248_Brittany_Simpson PDF

eP249_Christina_Sloan-Heggen PDF

eP250_Nara_Sobreira PDF

eP251_Elizabeth_Wohler PDF

eP252_Yishay_Ben Moshe PDF

eP253_Sophia_Song PDF

eP254_Rodrigo_Starosta PDF

eP255_Brandon_Stone PDF

eP256_Brandon_Stone PDF

eP257_Miao_Sun PDF

eP258_Kevin_Thorneloe PDF

eP259_Precilla_D'Souza PDF

eP260_Meghan_Towne PDF

eP261_Jessica_Tumolo PDF

eP262_Moon_Tung PDF

eP263_Moon_Tung PDF

eP264_Fumihiko_Urano PDF

eP265_Melita_Irving PDF

eP266_Melita_Irving PDF

eP267_José_Vázquez Rodríguez PDF

eP268_Danita_Velasco PDF

eP269_Matt_Velinder PDF

eP270_Natalie_Vena PDF

eP271_James_Walters PDF

eP272_Luis_Vilanova-Velez PDF

eP273_Abdulrazak_Alali PDF

eP274_Robert_Haws PDF

eP275_Elizabeth_Forsythe PDF

eP276_Erika_Vucko PDF

eP277_Raoul_Wadhwa PDF

eP278_Hua_Wang PDF

eP279_Xiangling_Wang PDF

eP280_Melissa_Wasserstein PDF

eP281_Tara_Wenger PDF

eP282_Tara_Wenger PDF

eP284_David_Whitehead PDF

eP285_Julia_Wilkinson PDF

eP286_Mary_Willis PDF

eP287_Jessica_Wright PDF

eP288_Feng_Xu PDF

eP289_Harry_Lesmana PDF

eP290_Chen_Yang PDF

eP291_Sho_Yano PDF

eP293_Laura_Andolina PDF

eP294_Selina_Casalino PDF

eP295_Rebecca_Clark PDF

eP296_Holly_Dubbs PDF

eP297_Emily_Franciskato PDF

eP299_Yvonne_Bombard PDF

eP302_Laura_Westbrook PDF

eP303_Ashton_Wolfe PDF

eP307_Eden_Haverfield PDF

eP308_Puja_Shah PDF

eP309_Yaron_Einhorn PDF

eP310_Ann_Tezak PDF

eP311_Fatima_Abidi PDF

eP312_Leslie_Aptekar PDF

eP313_Erfan_Aref-Eshghi PDF

eP314_Nada_Assaf PDF

eP315_Blake_Atwood PDF

eP317_Hayk_Barseghyan PDF

eP318_Subit_Barua PDF

eP320_Oscar_Bastidas PDF

eP321_Lora_Bean PDF

eP322_Ashley_Birch PDF

eP323_Lisa_Vincent PDF

eP324_Kameryn_Butler PDF

eP325_Chloe_Mighton PDF

eP326_Raymond_Caylor PDF

eP327_Sudipta_Chakraborty PDF

eP328_Ada_Chan PDF

eP329_Anjana_Chandrasekhar PDF

eP330_Yunjia_Chen PDF

eP331_Xiangwen_Chen-Deutsch PDF

eP332_Samantha_Choi PDF

eP333_Alec_Vest PDF

eP334_Benjamin_Clifford PDF

eP335_Christin_Collins PDF

eP336_Liz_Collins PDF

eP337_Hongzheng_Dai PDF

eP338_Pei_Dai PDF

eP339_Laura_Davids PDF

eP340_Natalie_Deuitch PDF

eP341_Jullianne_Diaz PDF

eP342_Alexa_Dickson PDF

eP343_Katherine_Dixon PDF

eP344_Casey_Duld PDF

eP345_Yaron_Einhorn PDF

eP346_Xiaolan_Fang PDF

eP347_Mariska_Davids PDF

eP348_Lucinda_Fulton PDF

eP349_Lucinda_Fulton PDF

eP350_Manavalan_Gajapathy PDF

eP351_Kim_Gall PDF

eP352_Rajarshi_Ghosh PDF

eP353_Victoria_Groner PDF

eP354_Emily_Groopman PDF

eP355_Fen_Guo PDF

eP356_Naga_Guruju PDF

eP357_Naga_Guruju PDF

eP358_Julie_Hathaway PDF

eP359_Julie_Hathaway PDF

eP360_Andrea_Haworth PDF

eP361_James_Hernandez PDF

eP362_Ying Chen_Hou PDF

eP363_Alexander_Ing PDF

eP364_Jennifer_Johnston PDF

eP365_Benjamin_Kang PDF

eP366_Melissa_Keinath PDF

eP367_Melissa_Kelly PDF

eP368_Michelle_Paczosa PDF

eP369_Melissa_Landrum PDF

eP370_Donald_Latner PDF

eP371_Ruby_Liu PDF

eP372_Madhuri_Hedge PDF

eP373_Reynold_Ly PDF

eP374_Chloe_Mighton PDF

eP375_Ari_Silver PDF

eP376_Meghan_Miller PDF

eP377_Sarah_Edelmon PDF

eP378_Bahareh_Mojarad PDF

eP379_Martin_Muggli PDF

eP380_Babi_Nallamilli PDF

eP381_Dingani_Nkosi PDF

eP383_Rory_Olson PDF

eP384_Adnan_Al-Sarraf PDF

eP385_Ping_Gong PDF

eP386_Ha_Pham PDF

eP387_Zoe_Powis PDF

eP388_Aliz_Raksi PDF

eP389_Michael_Ruvolo PDF

eP390_Laura_Sack PDF

eP391_Nikhil_Sahajpal PDF

eP392_Yvonne_Bombard PDF

eP394_Shamita_Sanga PDF

eP395_Samantha_Schilit PDF

eP396_Bryce_Schuler PDF

eP397_Laura_Schultz-Rogers PDF

eP398_Alicia_Scocchia PDF

eP399_Alicia_Scocchia PDF

eP400_Bryce_Seifert PDF

eP401_Xuemei_Shi PDF

eP402_Tam_Sneddon PDF

eP403_Nadiya_Sosonkina PDF

eP404_Erin_Sybouts PDF

eP405_Ping_Zhang PDF

eP406_Katarzyna_Thompson PDF

eP407_Laura_Thompson PDF

eP408_Timothy_Tidwell PDF

eP409_Gretchen_MacCarrick PDF

eP410_Francesco_Vetrini PDF

eP411_Trey_Volack PDF

eP412_Megan_Vogel PDF

eP413_Jiyong_Wang PDF

eP414_Christin_Collins PDF

eP415_Alistair_Ward PDF

eP416_Ting_Wen PDF

eP417_Ferrin_Wheeler PDF

eP418_Yuan_Xue PDF

eP419_Megan_Mayer PDF

eP420_Xiaolin_Hu PDF

eP421_Xiaonan_Zhao PDF

eP422_Tricia_Zion PDF

eP423_Christina_Botti PDF

eP424_Natalie_Boychuk PDF

eP425_Kyle_Brothers PDF

eP426_Molly_Caisse PDF

eP427_Molly_Caisse PDF

eP428_Lauren_Choate PDF

eP429_Lindsay_Derby PDF

eP430_Edward_Esplin PDF

eP431_Anna_Hurst PDF

eP432_Brianne_Miller PDF

eP433_Hila_Milo Rasouly PDF

eP434_John_Mulvihill PDF

eP435_Anya_Revah-Politi PDF

eP436_Maren_Scheuner PDF

eP437_Maren_Scheuner PDF

eP438_Meow-Keong_Thong PDF

eP439_Emilea_Warnick PDF

eP440_Tracey_Weiler PDF

eP441_Christina_Hansen PDF

eP442_Haoyang_Yan PDF

eP443_Ashley_Acevedo PDF

eP444_Amanda_Allred PDF

eP445_Sarah_Araji PDF

eP446_Mariam_Ayyash PDF

eP447_Natalie_Burrill PDF

eP448_Natalie_Burrill PDF

eP449_Natalie_Burrill PDF

eP450_Aida_Catic PDF

eP452_Amanda_Freed PDF

eP453_Zenobia_Gonsalves PDF

eP454_Zenobia_Gonsalves PDF

eP456_Minh-Tuan_HUYNH PDF

eP457_Randa_Lenker PDF

eP458_Yan_Lyu PDF

eP459_Megan_Miller PDF

eP460_Kavita_Narang PDF

eP461_Michelle_Nguyen PDF

eP462_Nichole_Owen PDF

eP463_Julianna_Walker PDF

eP464_Lauren_Petrarca PDF

eP465_Prajnya_Ranganath PDF

eP466_Kirsten_Riggan PDF

eP467_Andrea_Schelhaas PDF

eP468_Matthew_Schmitz PDF

eP469_Suresh_Shenoy PDF

eP470_Tirtza Spiegel_Strauss PDF

eP471_Huyen-Trang_Tran PDF

eP472_Lauren_Walters-Sen PDF

eP473_Patricia_Winters PDF

eP474_Roni_Zemet Lazar PDF

eP475_Ariel_ZImerman PDF

eP476_Elissa_Levin PDF

eP477_Austin_Antoniou PDF

eP478_Myla_Ashfaq PDF

eP479_Erin_Seibel Audio

eP480_Emily_Boothe PDF

eP481_Jennifer_Taylor PDF

eP483_Peter_Hulick PDF

eP484_Holly_Houdeshell PDF

eP485_Francisco_De La Vega PDF

eP486_Heather_Dean Glessner PDF

eP487_Eleanore_Dougherty PDF

eP488_Joe_Donahue PDF

eP489_Mryia_Hubert PDF

eP490_Ian_Jarvis PDF

eP491_Allison_Jay PDF

eP492_Nicole_Kelly PDF

eP493_Kristine_King PDF

eP494_Bruce_Korf PDF

eP495_Eliza_Kruger PDF

eP496_Jennifer_Leonhard PDF

eP497_Annie_Li PDF

eP498_Stephanie_Dallaire PDF

eP499_Megan_Lyon PDF

eP500_Christian_Marshall PDF

eP501_Molly_Martzke PDF

eP502_Chloe_Mighton PDF

eP503_Holly_Peay PDF

eP504_Daniel_Pique PDF

eP505_Dylan_Platt PDF

eP506_Siddharth_Pratap PDF

eP507_Francesco_Sautto PDF

eP508_Jamie_Schnell Blitstein PDF

eP509_Abbey_Scott PDF

eP510_Jessica_Scott Schwoerer PDF

eP511_Jessica_Scott Schwoerer PDF

eP512_Michael_Setzer PDF

eP513_Chloe_Mighton PDF

eP514_Brian_Shirts PDF

eP515_Hadley_Smith PDF

eP516_Hadley_Smith PDF

eP517_Haley_Streff PDF

eP518_Doug_Stubbs PDF

eP520_Robert_Wildin PDF

2022 ACMG Abstract Search

eP001_Fatima_Alabdulrazzaq Audio

Pilot Study of Insulin-like Growth Factor 1 on Differing Metabolic Responders with Phelan-McDermid Syndrome: Preliminary Results

eP009_Kathryn_DeLong Audio

eP011_Colleen_Donnelly Audio

eP012_Megan_Vogel Audio

eP014_Shelly_Goomber Audio

eP021_Brissia_Lazalde Audio

eP024_Laura_Mackay Audio

eP029_Bryce_Schuler Audio

eP032_Sara_Smith Audio

eP033_Zinandré_Stander Audio

eP034_Eran_Tallis Audio

eP057_Kerry_Schaffer Audio

eP061_Emily_Soper Audio

eP062_Xia_Wang Audio

eP077_Ben_Apple Audio

eP078_Elizabeth_Baker Audio

eP079_Caitlin_Baptiste Audio

eP083_Breanna_Beers Audio

eP085_Nicole_Bertsch Audio

eP086_Eric_Rush Audio

eP091_Lauren_Carter Audio

eP093_Joana_Catanho Audio

eP096_Lakshita_Chauhan Audio

eP101_Fuad_Chowdhury Audio

eP111_Julia_Hara Audio

eP112_Sara_Worrill Audio

eP117_Saad_Ehsan Audio

eP118_Lindsey_Elmore Audio

eP120_Laura_Farach Audio

eP122_Stephanie_Felker Audio

eP124_Jill_Garrison Audio

eP126_Ida_Moeller Audio

eP127_Anusha_Gandhi Audio

eP128_Ria_Garg Audio

eP137_William_Hankey Audio

eP139_Priya_Hays Audio

eP144_James_Holt Audio

eP151_Alexander_Jorge Audio

eP152_Merin_Jose Audio

eP153_Meenakshisundaram_Karthikeyan Audio

eP154_Alexander_Katz Audio

eP155_Jennifer_Kemppainen Audio

eP159_Dorsa_Kord Audio

eP161_Theresa_Kowalski Audio

eP164_Marissa_Ledger Audio

eP165_Kathryn_Ray Audio

eP167_Jill_Mayhew Audio

eP171_Timothy_Lequang Audio

eP172_Timothy_Lequang Audio

eP178_Georgia_Loucopoulos Audio

eP188_Ajay_Mehta Audio

eP190_Dana_Miller Audio

eP195_Stephen_Kaler Audio

eP197_Dhanya Lakshmi_Narayanan Audio

eP203_Joshua_Owens Audio

eP204_Ravi_Savarirayan Audio

eP206_John_Pappas Audio

eP207_Melissa_Parisi Audio

eP208_Anna_Paschall Audio

eP210_Sofia_Pérez Audio

eP212_Erin_O’Rourke Audio

eP213_Erin_O’Rourke Audio

eP218_Rebecca_Procopio Audio

eP220_Rachel_Rabin Audio

eP222_Vanessa_Rangel Miller Audio

eP223_Jill_Rosenfeld Audio

eP224_Linda_Rossetti Audio

eP233_Robert_Schuetz Audio

eP234_Bryce_Schuler Audio

eP236_Monisha_Sebastin Audio

eP239_Go Hun_Seo Audio

eP241_Zohra_Shad Audio

eP242_Ashima_Sharma Audio

eP243_Matthew_Shear Audio

eP244_Charlotte_Sherlaw-Sturrock Audio

eP247_Plamena_Simeonova Audio

eP249_Christina_Sloan-Heggen Audio

eP252_Yishay_Ben Moshe Audio

eP253_Sophia_Song Audio

eP255_Brandon_Stone Audio

eP256_Brandon_Stone Audio

eP265_Melita_Irving Audio

eP266_Melita_Irving Audio

eP268_Danita_Velasco Audio

eP271_James_Walters Audio

eP274_Robert_Haws Audio

eP275_Elizabeth_Forsythe Audio

eP284_David_Whitehead Audio

eP285_Julia_Wilkinson Audio

eP286_Mary_Willis Audio

eP293_Laura_Andolina Audio

eP294_Selina_Casalino Audio

eP300_Mary Beth_Boyea Audio

eP302_Laura_Westbrook Audio

eP308_Puja_Shah Audio

eP320_Oscar_Bastidas Audio

eP322_Ashley_Birch Audio

eP327_Sudipta_Chakraborty Audio

eP332_Samantha_Choi Audio

eP334_Benjamin_Clifford Audio

eP336_Liz_Collins Audio

eP337_Hongzheng_Dai Audio

eP338_Pei_Dai Audio

eP344_Casey_Duld Audio

eP347_Mariska_Davids Audio

eP351_Kim_Gall Audio

eP353_Victoria_Groner Audio

eP354_Emily_Groopman Audio

eP358_Julie_Hathaway Audio

eP359_Julie_Hathaway Audio

eP360_Andrea_Haworth Audio

eP361_James_Hernandez Audio

eP364_Jennifer_Johnston Audio

eP373_Reynold_Ly Audio

eP377_Sarah_Edelmon Audio

eP379_Martin_Muggli Audio

eP385_Ping_Gong Audio

eP388_Aliz_Raksi Audio

eP390_Laura_Sack Audio

eP394_Shamita_Sanga Audio

eP395_Samantha_Schilit Audio

eP396_Bryce_Schuler Audio

eP398_Alicia_Scocchia Audio

eP399_Alicia_Scocchia Audio

eP409_Gretchen_MacCarrick Audio

eP410_Francesco_Vetrini Audio

eP412_Megan_Vogel Audio

eP416_Ting_Wen Audio

eP424_Natalie_Boychuk Audio

eP426_Molly_Caisse Audio

eP427_Molly_Caisse Audio

eP434_John_Mulvihill Audio

eP435_Anya_Revah-Politi Audio

eP439_Emilea_Warnick Audio

eP442_Haoyang_Yan Audio

eP458_Yan_Lyu Audio

eP459_Laura_Rust PDF

eP460_Kavita_Narang Audio

eP463_Julianna_Walker Audio

eP465_Prajnya_Ranganath Audio

eP467_Andrea_Schelhaas Audio

eP468_Matthew_Schmitz Audio

eP471_Huyen-Trang_Tran Audio

eP472_Lauren_Walters-Sen Audio

eP473_Patricia_Winters Audio

eP477_Austin_Antoniou Audio

eP478_Myla_Ashfaq Audio

eP480_Emily_Boothe Audio

eP481_Jennifer_Taylor Audio

eP487_Eleanore_Dougherty Audio

eP494_Bruce_Korf Audio

eP500_Christian_Marshall Audio

eP504_Daniel_Pique Audio

eP505_Dylan_Platt Audio

eP507_Francesco_Sautto Audio

eP510_Jessica_Scott Schwoerer Audio

eP511_Jessica_Scott Schwoerer Audio

eP518_Doug_Stubbs Audio

eP520_Robert_Wildin Audio

eP025_Laura_Mackay Audio

eP076_Rhonda_Anderson Audio

ACMG Annual Meeting 2022 Abstract Supplement

Novel use of IL-1 inhibition via canakinumab in two patients with lysinuric protein intolerance and immune dysregulation

eP459_Megan_Miller Audio

Screening for Metabolic Abnormalities in a Cohort of Patients with Hypermobility

eP459_Laura_Rust Audio

Complex Glycerol Kinase Deficiency and X-Linked Intellectual disability

Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion

Delayed Onset Hyperammonemic Encephalopathy in an Adult With GLUD1 Deficiency

Cystathionine beta Synthase deficiency patients are being missed by newborn screening

Identification of a novel exonic deletion in the GALNS gene causing Morquio syndrome.

Conservative Management with Serial Biochemical Monitoring for Newborn Screen Detected Maple Syrup Urine Disease (MSUD) Patients Without Metabolic Decompensation

Diagnosis of DNAJC12-Deficient Hyperphenylalaninemia Offers Targeted Therapeutic Options to Counteract Neurotransmitter Deficiency

Biochemical Characterization of Single Minded-1 Missense Variants Associated with Severe Obesity

Novel Biomarkers of Succinic Semialdehyde Dehydrogenase Deficiency Highlight Opportunities for Screening and Detection of GABA Catabolism Pathway Abnormalities

Establishment of a Clinically Validated In Vitro Functional Assay to Score Pathogenicity of Novel GAA Variants in Pompe Patients

COQ5 Compound Heterozygous Variants in a Family with Global Developmental Delay, Seizures, Spastic Paraparesis, and Stroke.

Biochemical Diagnosis of Pterin Defect After Negative Broad Genetic Evaluation

GNE Gene Variants Associated with Thrombocytopenia with or without GNE Myopathy

Late-Onset Congenital Erythropoietic Porphyria Associated with Myeloid Malignancy

Case Presentation: Dual Diagnosis of LCHAD Deficiency and Type 1 Diabetes Mellitus and Complexities of Management

Expanding the Clinical Spectrum of Asparagine Synthetase Deficiency

Case report of a Mexican family with alpha mannosidosis and a novel probably pathogenic variant in the MAN2B1 gene.

Action Myoclonus-Renal Failure Syndrome: An Atypical Storage Disorder with a Treatment Dilemma

Metabolomic Mapping of Rhizomelic Chondrodysplasia Punctata

Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency

Newborn Screening for Pompe Disease: The Indiana Experience

Screening for Co-incident TANGO2 Related Metabolic Encephalopathy and Arrhythmia Syndrome in 22q11 Deletion Syndrome

Neurological manifestations in PMM2 related congenital disorders of glycosylation (CDG): Insights into clinico-radiological characteristics and recommendations for follow-up

Response of an Infant with Presumed Type II Multiple Acyl-CoA Dehydrogenase Deficiency to Ketone Supplementation

Effect of Peanut Butter Consumption on C26 Concentrations in Breastmilk- Implications for X-ALD Newborn Screening

Clinical and Biochemical Characterization of Carnitine Palmitoyltransferase-2 Deficiency and Novel Case Exacerbated by Heterozygosity with Partial Carnitine Transporter Deficiency

Measurement of Nicotinamide Adenine Dinucleotide (NAD+) from Dried Blood Spot Cards

COASY-Associated Pontocerebellar Hypoplasia - A Possible Additional Secondary Target Detectable by Expanded Newborn Screening?

Novel use of global untargeted metabolomics in a patient with Glycogen Storage Disease Ib receiving off label empagliflozin treatment

Genotype-Phenotype Correlation of Glycogen Storage Disease type IV

Not Your Typical Newborn Screen for X-ALD: Outcomes from Washington State

Biochem for the Win! The Added Value of Biochemical Genetic Testing for Diagnosis and Variant Interpretation in the Genomic Era

A new biochemical assay to measure plasmalogens with CLIR disease differentiation

Does Lynch Syndrome Cause Predisposition to Breast Cancer? Experience from a Hereditary Breast Cancer Clinic in Pakistan

Breast Cancer Patients Categorized as High-Risk of Recurrence and/or Basal-Type Molecular Subtype by Agendia should Universally Undergo Germline Genetic Testing

How Long Will They Wait? Applying Updated NCCN Criteria to Previously Unqualified Patients Reveals Missed Opportunities for Personalized Cancer Management

Highly sensitive Blocker Displacement Amplification-based qPCR approach in detecting low level JAK2 variant

Membrane metalloendopeptidase (MME) Positively Regulates Phosphoinositide 3-Kinase (PI3K) Signaling in Triple Negative Breast Cancer

Papillary Renal Cell Carcinoma, Glioma and Colon Polyps in a patient with novel POT1 Variant

Germline Cancer Predisposition Variants in a Cohort of Early-Onset Merkel Cell Carcinoma Patients

Identifying cancer predisposition in a series of 1,521 pediatric oncology patients by tumor-only panel-based testing

Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies

Cytogenomic profiling and clinical correlation of 21q22 amplification in acute myeloid leukemia reveal distinct cytogenomic features and poor outcomes

Coding Defects in Chromosomal Segregation and Protein Targeting are Central to TGCT Predisposition

Detection of Rare and Novel Fusions in Pediatric B-Lymphoblastic Leukemia (B-ALL) by Capture-Based Transcriptome Sequencing (RNA-Seq)

Real-world clinical characteristics and management of breast cancer in patients with germline pathogenic variants in ATM, CHEK2 and PALB2

The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group

Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Highly Complex Intrachromosomal Rearrangements Resulting from Multiple 5q15q32 Deletions, 5'PDGFRβ Deletion, Pericentric Inversion and TP53 Inactivation

Precision Oncology: Improvements in Follow up and Confirmation of Potential Germline Variants Identified from Tumor Next Generation Sequencing

Determining Indications for Genetic Testing Among Breast Cancer Patients with Inherited Cancer Pathogenic/Likely Pathogenic Variants

Breast Cancer Characteristics Among Women with Hereditary Breast Cancer

Characterizing the Complex Chromosomal Rearrangements in a Philadelphia Negative BCR/ABL1 Positive Case

Genetic Risk for Breast and Ovarian Cancer in a Diverse and Unselected Population

Clinically Significant Goiters as The Initial Presentation of PTEN Hamartoma Tumor Syndrome

Genetic Variants Associated with Childhood Cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce

Consumer-Initiated Genetic Testing Identifies Individuals Predisposed to Multiple Hereditary Cancer Syndromes

Rare Germline Variants Identified Using Genome Sequencing in Patients with Hereditary Cancer

Pitt-Hopkins Syndrome, A High Functioning Family with Milder Phenotypes

Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq study

Homozygous SMN1 Single Nucleotide Variant in a Patient with SMA Type 0

Possible Founder Variant and Spectrum of Phenotypic Manifestation of Fukuyama Muscular Dystrophy Reported in Four Unrelated Pakistani Families

A mosaic Xq21.1q23 duplication in a female with autism and developmental delays

45,X/46,XY Mosaicism: Retrospective Study of 100 Patients

Disparities of Racial and Ethnic Minorities in Population Genetic Screening: Evidence and Promising Strategies

Interstitial Deletion of 3q21 in a Child with Multiple Congenital Anomalies; Expanding the Phenotype

Atypical Presentation of a Patient with Sotos Syndrome with Later Onset Overgrowth, Mandibular Hypoplasia, and Cleft Palate

The Evolution of a Diagnostic Odyssey

Pancreatic Lipase Deficiency Cohort in the Plain Population

Atypical Polycystic Kidney Disease in Individuals Heterozygous for Rare ALG8 Protein-truncating Variants

Phenotypes and Genotypes in a Cohort of Children with Single Ventricle Congenital Heart Disease

Cerebellar Atrophy, Developmental Delay and a VUS in the THG1L Gene: A Case Report

A Rare Case of Mosaic Trisomy 15 with Chylothorax

Dandy Walker Malformation in Three Unrelated Families with Biallelic Variants in CAPN15 Expands the Phenotypic Spectrum of Oculogastrointestinal Neurodevelopmental Disorder

Associated Recessive Retinitis Pigmentosa Caused by Paternal Uniparental Disomy

Chromosomal Microarray Analysis as a Supplement to Exome Sequencing in Pediatric Patients with Suspected Inborn Errors of Immunity

Phenotype of Two Old Order Amish Patients With NOD2 Increased Risk Alleles

Hypophosphatemia Gene Panel Sponsored Program:  A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia

Identification of an Apparently de novo PKD1 Variant in a Patient with Polycystic Kidneys, Renal Angiomyolipoma, and Lymphangioleiomyomatosis

Diagnosing a Patient with Progressive Myoclonic Epilepsy-12 with Variants of Uncertain Significance on Exome Sequencing

47, XXY: Mathematic Capabilities and the Impact of Hormonal Replacement Treatment (HRT)

Precision Medicine Modelling for Undiagnosed and Rare Disease

Improving Cytogenetic Testing Utilization in a Tertiary Care NICU through Quality Improvement

Germline Mosaicism in Severe BICD2-Associated Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 with Arthrogryposis Multiplex Congenita

De novo Interstitial Deletion of Chromosome 7p22.1p21.2: A Case Report

Diagnostic Yield of Chromosomal Microarray in Congenital Heart Disease: A Single Center Retrospective Study

A Family-Based Study of Hereditary Spastic Paraplegia Type 46 in Two Siblings due to a Novel GBA2 Variant.

Novel pathogenic variants causing TBCK Syndrome in Three Patients From Indian Origin.

The Utility of CSF-derived Cell-free DNA in Molecular Diagnostics for the Megalencephaly-capillary Malformation (MCAP) Syndrome: A Case Report

Exome Sequencing of >500 individuals with Brain Malformation Phenotypes Reveals Marked Genetic Heterogeneity

Wiedemann-Rautenstrauch Syndrome- New Pathways for an Old Disease

The diagnostic odyssey towards detection of mosaic distal 5p tetrasomy through buccal swab DNA analysis

Speech Development Gene Pathways: Would Genome Sequencing In Nonverbal Individuals Provide A Link?

Two Patients with Autism Secondary to ZBTB18 Loss-of-Function Pathogenic Variants

Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations

BRSK2-Related Neurodevelopmental Disorder: Novel Pathogenic Variant and Review of Literature

Accurate genotyping of UGT1A1 dinucleotide repeat polymorphism from targeted NGS data for the assessment of irinotecan chemotherapy adverse events

PPP1CB-Related Noonan Syndrome with Loose Anagen Hair Presenting with Focal Cortical Dysplasia and Epilepsy

Clinical efficacy of next-generation sequencing panels for hearing loss diagnostics

Microduplication 5q11.2q21.1 Presenting With Congenital Scoliosis

Septo-Optic Dysplasia Associated With Unbalanced Chromosome Translocation Resulting in Trisomy 11q13 and Monosomy 12q24.3

Prevalence and Clinical Consequences of Genetic Variants Associated with Familial Hypercholesterolemia and LDL-C Lowering in a Diverse Patient Population

De Novo Prenatal Diagnosis of X-Linked Acromegaly Gigantism (X-LAG)

Two Novel NPR2 Variants in a Patient with Acromesomelic Dysplasia - Maroteaux Type

Yield of exome sequencing in patients with abnormal head size

Natural History Study of an International TANGO2 Deficiency Cohort

Connective Tissue Disorders Not Otherwise Specified: Defining the Problem

The landscape of peripheral neuropathy genetics: When common causes are not actually the cause

Predicted Frameshift Variant in TSC2 Associated with Mild TSC Phenotype and Non-Penetrance

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

The Clinical Significance of Poisoned Splicing Variants in Early-Onset Neurodevelopmental Disorders

Design of a Phase 2, Double-Blind, Placebo-Controlled Trial of Setmelanotide in Patients With Genetic Variants in the Melanocortin-4 Receptor Pathway

Uncovering Rare Obesity Genetic Testing Program: Overview and Health Care Provider Utilization

Variants in Obesity-Related Genes in a Population with Early-Onset Obesity

Frequency of MC4R Pathway Variants in a Large US Cohort of Pediatric and Adult Patients With Severe Obesity

Relationships Between Food-Related Behaviors, Hyperphagia, Obesity, and Medication Use in Smith-Magenis Syndrome

A Novel CSNK1E Variant in a Patient with Autism Spectrum Disorder

Prevention of Atypical Hemolytic Uremic Syndrome with Eculizumab in Cardiopulmonary Bypass: The Importance of Genomics in Congenital Heart Disease

Infantile Hypertrophic Cardiomyopathy due to HRAS Related Costello Syndrome Responsive to Trametinib: Outcomes after 2 Years

High Prevalence of Bony Abnormalities in Patients with Rubinstein-Taybi Syndrome: A Case Series

Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2

Genome Sequencing and Chromosomal Microarray as a Tool for Evaluating Phenotypic Variability in Individuals with X and Y Chromosome Variations

Functional characterization of variants of uncertain significance (VUSs) identified in patients with early-life epilepsy in Hong Kong

An Exploration of the Impact of Hormonal Replacement Therapy (HRT) upon Vocabulary Skills in Males with 49,XXXXY

Defining the disease entity for inherited retinal disorders - lump or split?

An informatics star allele calling workflow for direct typing of CYP2D6 from fully phased variants using PacBio HiFi reads

Spatial Transcriptomic Approaches for Characterizing Childhood Intellectual Disability

A Novel, Double-Blind Placebo-Controlled Seamless Phase 1/2/3 AAV9 Gene Therapy Study for Wilson Disease

Expansion of Long-read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders and Multiple Congenital Anomalies

Treatment Resistant Malignant Catatonia in a Patient with VAMP2-Related Disorder

Newborn Screening for X-Linked Adrenoleukodystrophy: Identification of Isodisomy of X in an Affected Female Infant

Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing

Severe Pierre Robin Sequence and Hydrocephalus in Infant with TUBB3 Variant

Application of Exome Sequencing in Patients of Congenital Anomalies with or without Intellectual Disability

Long-term safety and efficacy of pegunigalsidase alfa: a multicenter extension study in adult patients with Fabry disease

Safety and Efficacy of Pegunigalsidase Alfa, Every 4 Weeks, in Fabry Disease: Results From the Phase 3, Open-label, BRIGHT Study

Mosaic 2q37 deletion detected in a neonate with IUGR and brain malformations

Outcomes in Growth Hormone-treated Noonan Syndrome Children: Impact of PTPN11 Variant Status

A case of atypical Crouzon syndrome with congenital diaphragmatic hernia

WASF2 variants contribute to heart failure phenotypes

Predictive genomic medicine for thoracic aortic aneurysm and dissection.

Genetic Investigation of Idiopathic Short Stature in the Endocrinology Practice: The Mayo Clinic Experience

Pilot Study of Functional Near-Infrared Spectroscopy of Cortical Brain Function During an Auditory and Visual N-back task in Klinefelter syndrome

Efficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study

The utility of transcriptomics to increase diagnostic yield in cases of rare genetic disease

A TOPBP1 Variant Associated With BAFopathy Methylation Pattern

Bilateral Oophorectomy and the Risk of Breast Cancer in Women with a Pathogenic Variant in BRCA1: a Reappraisal

Homozygous Deletion of the Terminal Exon of DSG3 Associated with Acantholytic Blistering of the Oral and Laryngeal Mucosa

Mosaic Variant in ENG in Infant with Pulmonary Arteriovenous Malformations: Case Report and Review of Hereditary Hemorrhagic Telangiectasia

Germline Mosaicism in Two Sisters with Malan Syndrome

A Case Report of Neurological Manifestations and Failure to Thrive in Neurobehavioural Disease Caused by a Variant in RFX7

Improvement in left ventricular ejection fraction in patients treated with triheptanoin for long-chain fatty acid oxidation disorders (LC-FAOD)

Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): updated results from a novel, longitudinal, multicenter Disease Monitoring Program

The Impact of Glycogen Storage Disease Type III on Children and Adults: Results from an Online Survey

A De Novo Variant in AMOTL1 Gene in an Adult with Craniofacial Abnormalities and Previously Unreported Congenital Diaphragmatic Hernia

A case report of Ververi-Brady syndrome: expanding the genotype and phenotype

When cfDNA Screening Deceives: A Rare Case of Mosaicism for 46,XX/47,XXY with Uniparental Isodisomy and Genital Atypia

Family of Three with Truncating Pathogenic Variant in NFIA Leading to Central Nervous System and Urinary Tract Defects

A New and Milder Case of Primary Autosomal Recessive Microcephaly Type 16

Re-examination of the 2017 Diagnostic Criteria For Hypermobile Ehlers-Danlos Syndrome In Patients Evaluated at The University of Miami

A Novel Variant of CXCR4 gene in a Case of WHIM Syndrome

Recurrent SMAD4 gain-of-function pathogenic variants cause brain and spine abnormalities in 40 patients followed in the MGH Myhre Syndrome Clinic

Metabolomics Reveals Measurable Perturbations in De Novo Ceramide Biosynthesis in DEGS1 Associated-Hypomyelinating Leukodystrophy - Towards a Clinically Significant Biomarker Profile

The Infrequent and Complicated Case of Differentiating Between Two Similar yet Rare Syndromes in a Young Patient

Expanding the Phenotype of CLCN6-Associated Early-Onset Neurodegeneration

Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases

Expanding the Phenotype of LMNB1 Duplication: Three Generation Family with Microcephalic Infant, Asymptomatic Individual, and Eldest Member Without Leukodystrophy

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping

Functional Assessment of a Novel POU4F3 Missense Variant

Novel KCNA1 Pathogenic Variant Associated Syndrome of Episodic Dystonia and Electrophysiologic Myokymia - A Case Report

A novel, milder case of CHEDDA Syndrome caused by a de novo variant outside of the canonical HX-motif of ATN1

Novel SNRPE-related Spliceosomopathy characterized by microcephaly and congenital atrichia

Decentralization of Clinical Trials in the era of COVID-19: Implications for Rare Disease Trials

Novel HECW2 Variant Presenting with Tachypnea and Multisystemic Congenital Malformations

Insights into the phenotype of KDM1A-related neurodevelopmental disorder: a new chromatinopathy

A Third Patient with RAP1B- Related Syndromic Thrombocytopenia and Novel Clinical Findings

Isodicentric(Y)(p11.2) mosaicism in newborn with 46,XX cells.

Differences of Sex Development (DSD) in Central Africa: Genetics, Psychosocial Adaptation and Perceptions

Co-occurring TCF12 and Mosaic NALCN Likely Pathogenic Variants: Case Report of Novel Skeletal Findings Without Craniosynostosis, Neurologic Dysfunction, and Apnea.

Three Generations of Females with a Heterozygous Likely Pathogenic Variant in SLC6A8 Causative of X-linked Creatine Transporter Defect

Safety and Efficacy of Copper Histidinate (CUTX-101) Treatment for Menkes Disease Caused by Severe Loss-of-Function Variants in ATP7A

Phenotypic and Genotypic Heterogeneity Related to Gene Defects in TBL1XR1

Further Delineation of KIF21B-Related Neurodevelopmental Disorders

EIF3F compound heterozygous genotype-phenotype association

Noonan syndrome associated with focal occipital alopecia in a patient with RAF1 mutation: a case report and literature review

A Phase 2 Clinical Trial Evaluating the Safety and Efficacy of Delandistrogene Moxeparvovec for Treating Patients with Duchenne Muscular Dystrophy

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes Among Family Members

Genotype / Phenotype Correlations in Joubert Syndrome

Expert Opinions Regarding Impact of Achondroplasia on Health-Related Quality of Life and Long-Term Effects of Vosoritide: A Modified Delphi Study

Pharmacogenetic profiling via genome sequencing in children with medical complexity

Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry.

NIH Down Syndrome Resources: DS-Connect Registry and INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project

GSD IX Natural History and Novel Liver Disease Severity Score: multicenter international collaboration uncovers longitudinal trends in liver disease severity

Considering Genetic Disorders in Premature Individuals: YY1-Related Disorder in Child Born at 27 Weeks Gestation

A Rare Case of Familial Syndromic Intellectual Disability: First reported Portuguese Patients

Incidental Cutaneous Tumor Regression in an Adult with NF1 on MEKinist Monotherapy

Safety, β-Sarcoglycan Expression, and Functional Outcomes From Systemic Gene Transfer of rAAVrh74.MHCK7.hSGCB in LGMD2E/R4

Phase 2 Multiple Ascending-Dose Study of SRP-5051 PPMO in Patients with DMD Amenable to Exon 51 Skipping: Part A Results

Prevalence of Cardiac Manifestations in Patients with Hypermobile Ehlers-Danlos Syndrome at the University of Miami

MED12-Related Hardikar Syndrome- Two Additional Cases and Novel Phenotypic Features Including Cholangiocarcinoma

An Unexpected Diagnosis of RIDDLE Syndrome and Possible TUBGCP6-Related Disorder Amidst Controversial Parental Consanguinity

Ophthalmology Genetics Clinic in the Times of COVID-19: A Hybrid Model

A Novel FGFR2 Variant in a Family with a Spectrum of Anterior Segment Anomalies

Genome Sequencing (GS) as a First Test in the Clinic

Expanding the Phenotypic Spectrum of COLEC10-Related 3MC Syndrome: A Glimpse Into COLEC10-Related 3MC Syndrome in the Ashkenazi Jewish Population

Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD

Gene Variant and Neuromuscular Findings from a Long-Chain Fatty Acid Oxidation Disorder Gene Panel Program

Dominant-Acting MAP3K20 Variants Cause Split-Foot Malformation and Sensorineural Hearing Loss

SMAD4-related Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome Presenting as Metastatic Adenocarcinoma of the Colon in a Teenager - a Case Report

Novel Compound Mutations in IGHMBP2 Associated with CMT

Dual Diagnoses in Neurogenetics- A Case Series of Pediatric Movement Disorders and Clinical Management

Placental Accelerated Aging in Antenatal Depression

Multiple Copy Number Losses in Female with Autism, Developmental Delay and Focal Epilepsy

A Case Report of a Complex Chromosome 8 Rearrangement with Partial Monosomy of 8p and Partial Trisomy of 8q

The Effects of Early Androgen Therapy on Behavior in Boys with 47,XXY Under 6 Years Old

Ophthalmic Findings Associated with NEDD4L-Related Disorder: Novel Finding in a Patient and Review of Literature

Development and optimization of a clinical support algorithm for rapid identification of diagnostic germline variants

SERPINA1 Sequencing Facilitates Detection of Undiagnosed Alpha-1 Antitrypsin Deficiency

Interim Results of the Vigilan Observational Study: Clinical Characteristics of Creatine Transporter Deficiency

TeleKidSeq: Incorporating Telehealth into Clinical Care of Children from Diverse Backgrounds Undergoing Clinical Genome Sequencing

Clinical Correlates, Diagnosis, and Management of Sleep-disordered Breathing in Young Children with Down Syndrome

Inner Epicanthal and Nasal Pits as Presenting Feature of Holoprosencephaly

Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development

Pursuit of a Diagnosis for Severe Skeletal Dysplasia: Case of a Compound MYH3 VUS Heterozygote After Negative Exome Sequencing

Incidental Finding of Autosomal Recessive Juvenile Parkinson Disease-2 in Chromosome 17q12 microduplication female infant

Analytical Validation of a PCR/CE Assay that Phases SNPs with CAG-Expanded Alleles for Selecting Huntington Disease Patients for Allele-selective Treatments

A Novel Variant in MORC2 Associated with Pigmentary Retinopathy, Short Stature, Microcephaly and White Matter Abnormalities

Rapid exome sequencing influences acute and long-term management of  critically unwell children and their families

INCEPTUS Multinational, Prospective, Natural History, Run-in Study of Males with X-Linked Myotubular Myopathy

Novel EFTUD2 Variant Adds to Understanding of Phenotypic Spectrum of Mandibulofacial Dysostosis with Microcephaly

Pathogenic Variant in Valosin-Containing Protein causing Inclusion Body Myopathy Associated with Paget disease of Bone and Frontotemporal Dementia

Impact of DNA Methylation Signature Exploration for Variants of Uncertain Significance within Epigenetic Syndromes

Practical Implementation of Inpatient Rapid Comprehensive Sequencing for Critically Ill Pediatric Patients

Molecular Findings in Patients with Atypical Sturge-Weber Syndrome

VASCULAR ANOMALIES IN PATIENTS WITH MAFFUCCI SYNDROME.

A Multidisciplinary Endocrine-Genetic Obesity Clinic for Children: Diagnostic Utility and Insights

Incidence of Miscarriages and Recurrent Miscarriages in Women with Children with 47,XXY, 48,XXXY, or 49,XXXXY

Novel variant in AHDC1 leading to Xia-Gibbs syndrome: expansion of the phenotype.

Proposition of a Novel RASopathy Mediated by Mutations in ARF1

Intrafamilial Variability in Chromosome 2q13 Microdeletion: Case report and Review of the Literature

A Homozygous Nonsense Mutation in DNAJC30 Causes Leigh-like Phenotypes

Pre-Analytical Considerations Are Important In The Pharmacological Assessment Of Enzyme Therapeutics

A Phase 1/2 Trial of AXO-AAV-GM1 Gene Therapy for the Treatment of Infantile- and Juvenile-Onset GM1 Gangliosidosis

Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes

The spectrum of CFTR and PRSS1 pathogenic variants in chronic pancreatitis.

De Novo Heterozygous Variant in the RAB11B Gene Presenting With Combined Cardiac Defect and Neurodevelopmental Disorder: A Case Report.

A Pathogenic Deletion at 13q32.1q33.1 Presenting With Bilateral Sensorineural Hearing Loss and Pigmentation Anomalies, Mimicking Waardenburg Syndrome

Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome

Higher rates of non-skeletal complications in achondroplasia compared to the general population: a UK matched cohort study using CPRD-GOLD database

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia

De novo COL11A1 and COL9A2 variants corresponding to Stickler Syndrome phenotype

DVL2 - A Newly Identified Genetic Cause of Robinow Syndrome?

Reanalysis of commercial exome trio data reveals a de novo loss of function variant in KAT6A

Incorporating Genetic Services into Adult Kidney Disease Care

Bi-allelic Loss of Function Variant of the ACTG2 Gene that Proposes a Potential Novel Mechanism for Visceral Myopathies

Familial Pathogenic Variant Causing Osteogenesis Imperfecta Identified in the Puerto Rican Population

The Critical Role of NDF2 Domain in FMR1 Supported by a Novel Variant in Two Brothers with Intellectual Disability

Frequency of Bardet-Biedl Syndrome and Alström Syndrome Gene Variants in a Cohort With Early-Onset Obesity

Quality of Life in Patients With Bardet-Biedl Syndrome in a Setmelanotide Phase 3 Trial

Development of an overdue outreach program to improve adherence to phenylketonuria management

Exploring the Landscape of Genetics Patents in the United States from 2005 to 2020

New cases of FDXR-associate disorder in twin brothers and failed mitochondrial cocktail trial treatment

More Renal Genetics specialists are needed: experience from a tertiary medical center

Continued Improvement in Adults with Acid Sphingomyelinase Deficiency after 2 Years of Olipudase Alfa in the ASCEND Placebo-Controlled Trial

SeqFirst-neo: Improving access equity for a precise genetic diagnosis in the NICU

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth

Should Ehlers-Danlos Syndrome be Considered a Spectrum? A Case Report in Supporting of the Evidence.

Hidden threats: Identifying genetic risks for cardiomyopathy complications in healthy pregnant women

Genome-to-Treatment: A System to Guide the Acute Management of Genetic Disorders in Children

Return of individual genetic results in the largest recontactable cohort of individuals with autism

Genomic Characterization of a TP53 Tandem Duplication in a Pediatric Patient with Li-Fraumeni Syndrome

Non-Cirrhotic Portal Hypertension: Expanding the Phenotype of CBL Syndrome-Related Vasculopathy

A Mosaic Angelman Syndrome Case with Language Apraxia and Symptoms Overlapping Prader-Willi Syndrome

Disease characterization in sodium-potassium ATPases by reverse genetics in humans

Patient Satisfaction with Telehealth Genetic Counseling across Multiple Subspecialties

Return of Genome Sequencing Results in Ostensibly Healthy COVID-19 Positive Individuals: GENCOV Study Canada

Barriers to Uptake of Genetic Services in Families of Pediatric Hypertrophic Cardiomyopathy Patients

Familial MECP2 variants: a report of 4 affected families highlighting the variable phenotypic spectrum and implications for genetic counseling

Overview of Pediatric Genetic Counseling Clinic Models and Genetic Counselors' Perceptions of Them

Genetics Adviser: The Development and Usability Testing of a New Patient-Centered Digital Health Application to Support Clinical Genomic Testing

Parent Attitudes and Perceptions After Receiving Fragile X Premutation Results in the Early Check Newborn Screening Pilot Study

Examining a Hereditary Cancer STAT Panel and the Importance of Automatic Reflex Testing

A Tale of Two Tests: A PGT-M and Expanded Carrier Screening Clinical Experience Study

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

Factors Associated with Acquisition of Inherited Cancer Knowledge After Viewing a Web-based Educational Tool Among Black Women with Breast Cancer

The Burden of Secondary Findings in Exome Sequencing (ES)

Methods to Disclose Inherited Cancer Genetic Test Results in a Population-Based Research Study of Black Women with Invasive Breast Cancer

Diagnostic Testing for Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome: the GGC Experience

Exon level array utility in follow up to identification of copy number variants on expanded carrier screening

Too Few or Too Many? Variant Reporting Burden and Diagnostic Comparisons of an Extensive Gene Panel with Exome-Sequencing in Immunodeficiency

Rare Unbalanced Complex Chromosomal Rearrangement in a Case of Infertility: Insight into the 8p23.1 duplication syndrome

Development of an in-house long read sequencing clinical pharmacogenetic panel

Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Structural Variant Refinement

Concurrent somatic 9p21 deletion and germline EP300 mutation in a patient with T-ALL, immunodeficiency & malformations: phenotypic expansion or comorbidities?

AI-based Method to Estimate the Probability of a Variant Being an Artifact.

Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic- challenges and successes

Comparison of Genetic Ancestry to Self-Reported Ethnicity and Impact upon Residual Risk Following Expanded Carrier Screening

Case-control Study to Identify Key Residues and Domains within Hereditary Renal Disease Gene Panel to Aid in VUS Reclassification

Biallelic Variants in DLL1 As a Novel Cause of Severe Spondylocostal Dysostosis

Medically Actionable DNA Variation from the GENCOV COVID-19 Genome Sequencing Study

Genome Sequencing Reveals BHLHA9 Gene Duplication as Cause of Multi-Generational Split-Hand/Foot Malformation with Long Bone Deficiency

A quantitative trait GWAS on lens thickness identifies risk loci on PTPRM in the narrow-angle individuals anatomically susceptible to PACG

Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle

Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy

Mosaicism for SMARCB1 or LZTR1 variants in patients with Schwannomatosis in the UAB cohort

Next-Generation Sequencing Testing in Identification and Differential Diagnosis of Hereditary Anemia due to Erythrocyte Membrane Disorders, Enzymopathies and Related Disorders

The Importance of Parental Sequencing Depth in the Setting of Rapid Genome Sequencing

Tracking the emergence of SARS-CoV-2 variants of concern in vaccinated and unvaccinated patients

Optical Genome Mapping Workflow for Constitutional Genomic Structural and Copy Number Variation and Analysis

Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be under utilized

A Tale of Two Hbs: DNA Sequencing and Hemoglobin Electrophoresis

Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology

Efficacy of Next Generation Sequencing Data Reanalysis in Unsolved Cases with Suspected Mendelian Disorders: A Systematic Review and Meta-analysis

Ending the Diagnostic Odyssey: De Novo Mosaic Pathogenic 2,123 bp Deletion in CDKL5 Identified on Genome Sequencing

Clinical and genetic features of a large cohort of individuals with autoinflammatory disease

The Full (Mutation) Picture: One-Third of Patients with Fragile X Syndrome Present with Neurodevelopmental Disorders without Dysmorphism or Family History

Clinical Testing of SHOX Gene for SHOX Deficiency Disorders

Long-Read Genome Sequencing Informs the Molecular Etiology of Imprinting Disorders

Making the Grade: How Carrier Screening Panels Score Against the American College of Medical Genetics 'Tier 3' Recommendations

Community data-driven approach for generating cross-ethnic population carrier screening panel

The +5 position of the donor splice site and its role in genetic disorders

Rare Variants and Complex Genomic Structure of CYP2D6 Necessitate Careful Assessment and Interpretation of Haplotype and Copy Number Data

Human Pangenome Reference Consortium Coordinating Center

Describing the Impact of Genomic Variation on Function (IGVF) Consortium Submitted on behalf of the IGVF Consortium Members

QuaC: Implementing Quality Control Best Practices for Genome Sequencing and Exome Sequencing Data

Next-Generation Sequencing Panels for Cystic Kidney Disease with Improvements for Sequencing and Alignment Challenges

Systematic exploration of mosaic variants detected in blood samples from a primary immunodeficiency cohort referred for research exome sequencing

Testing for Y Chromosome in Turner Syndrome

A systematic approach for applying disease-specific phenotype in clinical variant interpretation

Repeat expansion disorders screening by genome sequencing: strategy and stumbling blocks

Exome Sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using Optical Genome Mapping

Genetic Findings in a Cohort of Patients with Pulmonary Arterial Hypertension Referred for NGS Panel Testing

Diagnostic Yield of Genetic Testing in an Unselected Cohort of Patients with Congenital Heart Disease

Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings.

Democratizing Carrier Screening: A 34-Gene Panel of Routine and Challenging Targets Resolved using a Single Workflow

Mosaic RAS Family In-Frame Insertion Variants in Patients with Hemangiomas and Vascular Malformations

A Review of Characteristic Features Identifying Balanced Chromosomal Translocations with Increased Potential for 3:1 Meiotic Segregation

Lessons from Pathogenicity Classifications for 251 RYR1 Variants Associated with Malignant Hyperthermia Susceptibility Using Variant Curation Expert Panel Revised Criteria

Identification of a novel intragenic inversion of DMD exons 18 to 21 in a male with Duchenne muscular dystrophy

A Comprehensive Study of E200K Genetic Creutzfeldt Jakob Disease Cases; Effects of Codon 129 Polymorphism

How a GUS Can Fly: Triaging Genes of Uncertain Significance in a Clinical Laboratory Setting

A Streamlined Process for Assessing the Strength of a Relationship Between a Gene and Specific Disease

Increased Automation Reduces Turnaround Time for Submissions to ClinVar

SouthSeq: Genome Sequencing for a Diverse Population of Hospitalized Infants

A Diverse Set of Case Presentation Highlight the Power of Genome Sequencing - What Next?

Fast Forward - is Multiomics a Resurgence of Old?

Analytical Validation of a Computational Method for Pharmacogenetic Genotyping From Clinical Exome Sequencing

Variant Classification Changes over Time at a Clinical Molecular Diagnostic Laboratory

Technical performance of a 455-gene preventative genomics assay

NGS Detection of NUDT15 6-bp insertion and UGT1A1 (TA) repeat polymorphism on a Preventative Genomics Assay

Enabling Single-Platform Testing and Carrier Screening of the FMR1, SMN1/2, and CFTR Gene Trio

A 9-year, single-institution retrospective study of chromosomal microarray analysis data obtained from products of conception

Optical Genome Mapping for High Throughput Analysis of Repeat Expansion Disorders

Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention

Diverse presentation of PARK2 gene variant patients: Array CGH study of nine cases with PARK2 disruption

Providing More Answers for Patients with Supplemental RNA Analysis

Mayo Clinic GeneGuide: A Population-Scale Genetic Interpretation Software for Reporting Pathogenic and Likely Pathogenic Variants Impacting the CDC Tier1 Genes

Clinical, Epidemiological and Genetic Characteristics of Children Diagnosed With Multisystem Inflammatory Syndrome (MIS-C) in Kuwait

Interpretation of SNP-based NIPS Data in the Context of Heteropaternal Twins

Cystic Fibrosis 165 Pathogenic Variants Genotyping by MassARRAY

Genetic Testing for Spinocerebellar Ataxias in Pediatric Patients

Optical Genome Mapping Capability Expanded to Enable Detection of Absence of Heterozygosity

Simultaneous Detection of SNVs and CNVs: Toward a Sample-to-Report First-Tier Whole Exome Sequencing Solution

Leveraging Unique Chromosomal Microarray Probes to Resolve Complex Copy Number Variation at the Highly Homologous Deafness-Infertility Syndrome Locus at 15q15.3

Optical Genome Mapping for Constitutional Postnatal SV, CNV, and Repeat Array Sizing: A Multi-site Clinical Study

A comprehensive genomic test reporting structure for communicating cancer and incidental findings

Investigation and Functional Characterization of Genomic Signatures in Congenital Muscular Dystrophy and Congenital Myopathy Patients from India

Calculating Recurrence Risk in an Individual with an Intrachromosomal Structural Rearrangement

Collaborative Efforts between Clinical Genetics, Cytogenetics, and Neonatology Improve Genetic Testing Practices in the NICU

Inadvertent allogeneic hematopoietic stem cell transplant from a lung allograft

Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes

Characterizing molecular diagnostic findings from next-generation sequencing panel testing for individuals with suspected congenital hypothyroidism or resistance to thyroid hormone

Utility of Genome Sequencing in CNV Identification in an Immune Disorders Cohort

Comprehensive Evaluation of Genetic Etiology Underlying Non-immune Hydrops Fetalis

Partial Trisomy of Chromosome 22 Mediated by Chromoanasynthesis in an 8-Month-Old Male

Finding Merit in Impurity: Designing a Cost-effective Workflow for Saliva Genome Sequencing

Evidence Supporting the Pathogenicity of the NADSYN1 c.1717G>A (p.Ala573Thr) Variant in Individuals Referred for Clinical Testing

Clinical Application of 24-hour Ultra-Rapid Genome Sequencing in a Critically Ill Neonate

Germline 16p13.1 Microdeletion Identified During Routine Hematologic Testing

Aberrant KCNQ1 Splicing as an Emerging Mechanism Underlying the Pathogenesis of Familial Beckwith-Wiedemann Syndrome with Reduced Penetrance

Prioritizing variant reanalysis based on ClinVar discrepancies can reduce the number of uncertain interpretations

Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests

De novo Missense Variants in DDX39B Cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature and Congenital Hypotonia

Tackling the COVID-19 Pandemic by Utilizing Next Generation Sequencing Technologies

An Evidence-Based Framework to Evaluate Melanocortin-4 Receptor (MC4R) Pathway Relevance for Obesity-Associated Genes

Type II cat eye syndrome in a newborn with intrauterine growth retardation and echogenic intracardiac focus during pregnancy

Diagnostic Yield and Clinical Utility of Nephrolithiasis and Primary Hyperoxaluaria Sequencing panels

Team-based genome diagnostics made possible with intuitive web-based iobio tools

Assessment of the Clinical Implication of Additional Cytogenetic Abnormalities in Acute Lymphoblastic Leukemia with t(4;11)(q21;q23)

Exome sequencing unravels dual diagnoses and complex molecular etiologies in a family with prior negative diagnostic testing

Enabling Reclassification of Missense Variants in PKD1/2 – the Power of A Commercial Laboratory Database

Genotype-phenotype correlation of distal 18q deletions less than 5 Mb

Clinical Utility of a 38-gene NGS Panel in Diagnosing Patients with Hemolytic Anemia: A Retrospective Review of 435 Cases

Development of an in-house whole transcriptome test for evaluation of Splicing VUS variants: experience and challenges in variant interpretation

Diagnostic rate of genetic testing in a pediatric research cohort with clinical insurance denials

Ethical Considerations in a Case of Non-paternity of a Deceased Neonate Identified Through Whole Genome Sequencing

Newborn screening is associated with decreased parental depression and stress compared to clinical diagnosis: results from a cross-sectional survey

Parental Impact of Genome Sequencing During the Neonatal Period

Utilization of the ACMG ACT Sheets and Algorithms on the ACMG Website

Disseminating Genetics Policy Information on Social Media

Gender and Sex Discordance in Genetic Testing: Mayo Clinic Genomics Laboratory Experience

Factors Associated with the Time to Complete Clinical Exome Sequencing in a Pediatric Patient Population

Genetics Professionals' Perspectives on the Reporting of Variants of Uncertain Significance (VUS): Should they always be reported?

Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to Genome Sequencing

Beyond Newborn Screening: Family Planning Implications and Considerations for Parents of a Child with Severe Combined Immunodeficiency

Nephrologists’ views on return of genetic results to research participants

Celebrating and Commemorating the 2022 Bicentennial of Mendel's Birth, the Exhumation of Mendel's Body for Archeologic, Anthropologic, and Genomic Research

Issues in interpreting results in research genomic testing for common disorders: an example within an OCD cohort

Genetics preparedness among frontline clinicians and the demand for genetics providers: The Wisdom Paradox

Recruitment of Veterans Affairs patients improves the diversity of precision medicine research participation

Ethical issues related to gene therapy with onasemnogene abeparvovec for spinal muscular atrophy type 1 in a developing country

A Survey on the Satisfaction of Standard Primary Care Residency Training in Genetics Education

Developing Medical Genetics Interest and Literacy through Student Interest Groups: The Why, The How, and The Challenges

Evaluation of Growth in Perceived Clinical Genetics Competency among Primary Care Providers Participating in Genomic Population Health Screening

Patients' Reaction to and Interpretation of Secondary Genomic Findings with Limited or No Medical Actionability

Fetal Fraction Amplification within NIPS Enables Detection of Clinically-relevant Genome-wide Copy-number Variants to 1Mb Resolution

Cases of Isodicentric and Isochromosome-related False Negatives on SNP-based Cell-free DNA Aneuploidy Screening

Fatty acid oxidation disorders and Acute Fatty Liver of Pregnancy- is it always the LCHAD deficiency 1528G>C variant?

High Rates of ‘Atypical’ Panorama Non-Invasive Prenatal Screening Results Among Consanguineous Arab American Women

Family History Helps Solve the Case: Prenatal Case Report of Lowe Syndrome

Multiple Pregnancies with Fetal Akinesia Deformation Sequence Caused by Mutations in MUSK

Expansion of the Prenatal Phenotype of PIEZO1 mutations

Effectiveness and utility of non-invasive prenatal screening (NIPS) for sex chromosome aneuploidies

Diagnostic Yield and Outcomes of NGS testing in Pregnancies with a Fetal Structural Anomaly

Diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) in the Postpartum Period: A Case Report

Fetal Exome Sequencing for Recurrent Arthrogryposis Identifies a Potentially Causative Variant in the TOR1A Gene: A Case Report

Fetal Ultrasound Presentation and Neonatal Diagnosis of Freeman-Sheldon Syndrome in Son of Previously Undiagnosed Adult Male

Heterozygous Deletion of the VEGFC gene in 4q34.3 Is Associated with Milroy-Like Lymphedema: First Prenatal Case Report

Fetal presentation of pyruvate dehydrogenase complex deficiency diagnosed by prenatal exome sequencing

Prenatal genetic diagnosis of fetal ultrasound anomalies by exome sequencing: a Chinese multi-center prospective cohort

Rare Clinical Gene Variant of SOX9: Acampomelic Campomelic Dysplasia

Diagnostic dilemma in a case of suspected fetal skeletal dysplasia

Barriers to prenatal genetic testing for male partners at a Los Angeles County public teaching hospital

Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis

Inconclusive Duchenne Muscular Dystrophy (DMD) Carrier Screening and Atypical SNP-Based NIPS Sex Chromosomes Analysis Suggest Maternal Sex Chromosome Abnormality

No Chromosome Abnormality Left behind: When Karyotype Following Positive cfDNA Screening Does Not Tell the Full Story

Role of Next-Generation Sequencing in the Evaluation of Families with Non-Immune Fetal Hydrops

The Use of Next Generation Prenatal Screening in a Low Resource Setting Among Non-Hispanic Black and Hispanic Patients

Prenatal genetic testing can lead to (almost) self-fulfilling prophecy: diastrophic dysplasia as an example

Carrier Frequency of Genes Associated With Autosomal Recessive Conditions in Diverse Populations: Lessons Learned From gnomAD and ClinVar

Improved Vanadis NIPT Platform for Detection of T13 T18 and T21 and Sex Chromosome Abnormalities

Racial and ethnic disparities in universal expanded carrier screening completion in an inner city population

The role of Clinical Exome Sequencing in genetic diagnosing of skeletal dysplasia in fetus detected by prenatal ultrasound in Vietnam

Deriving Risk Estimates for Balanced Rearrangement Carriers Utilizing PGT-SR Data

Patient Attitudes and Preferences about Expanded Noninvasive Prenatal Screening

Prenatal Exome Sequencing Analysis in the Clinical Setting of Fetuses with Structural Anomalies or Increased Nuchal Translucency

Long-term follow-up on fetuses diagnosed in second trimester with isolated single umbilical artery and normal chromosomal microarray

Applying Implementation Science to Support the Success of a Precision Health Initiative in a Learning Health System

A Classifier Prioritizing Exome and Genome Sequencing Cases for Re-Analysis

Identifying the Current Status and Future Needs of Clinical, Educational, and Laboratory Genetics Services in Pakistan: A Web-Based Panel Discussion

Primary Care Providers' Use of Genetic Services in the Southeast United States: Barriers, Facilitators, and Strategies

Project ECHO for Pediatric Genetics in Mississippi: Expanding Access to the Clinical Genetics Workup for Autism and Intellectual Disability

Advancing Genetic Disease Understanding and Improving Health Outcomes: The LTFU-Cares and LTFU-Check Initiative

The Biorepository and Integrative Genomics (BIG) Initiative: Addressing Genomic Health Care Disparities in Underserved Communities

Integrating Family Health History Screening and Genetic Testing via Electronic Health Record with Clinical Decision Support in Routine Mammography Screening

Scaling a high throughput next generation sequencing laboratory for community surveillance of SARS-CoV-2 viral variants during the public health crisis

Ancestry inference from targeted NGS tests to enable precision medicine and improve racial/ethnic representation in clinical trials

Demonstrating the Utility of Consumer Initiated Genetic Testing: The Identification of a Family with Vascular Ehlers-Danlos syndrome

Universal Newborn Screening of Congenital Cytomegalovirus using Dried Blood Spots and qPCR

Patient-Centric Adaptations for pheNIX Clinical Trial Evaluating HMI-102 Gene Therapy in Adults with PKU in the Era of COVID-19

Exploring Engagement and Uptake of a Comprehensive Family History-Based Cancer Risk Assessment Tool

A united front on tackling a pandemic - the true value of industry and government partnerships

COVID-19 and Clinical Genomics: A Detroit Community Hospital's Telehealth Experience

The ScreenPlus model for collective funding of pilot newborn screening

Population Genetic Screening Study Participants Intend to Share Test Results with Family Members

Integration of Genomics into Primary Care via the Alabama Genomic Health Initiative

Introduction to Odyssey: Real-World Rare Disease Data Collection Program for Patients With Long-Chain Fatty Acid Oxidation Disorders in the US

Essential Workforce for a Successful Precision Medicine Program

Interpreting for Genetics: Crossing the Language Barrier in Communities

Detection of Congenital Cytomegalovirus Infection on High-Risk Newborn Population

Performance Measures for Evaluating Access to Genetic Services: Work of the National Coordinating Center for the Seven Regional Genetics Networks

Genome-Wide Sequencing Ontario (GSO): An Implementation Pilot to Improve Rare Disease Diagnostics

Family Engagement within the Genetics Delivery System: Family Perspective

How will returning variants of uncertain significance impact healthcare use? A cross-sectional survey

Variables associated with parental decision to receive Fragile X premutation results after newborn screening for Fragile X syndrome

A novel visualization of state-by-state variability in newborn screening highlights underrepresentation of lysosomal storage disorders

Physicians' Attitudes about Integrating Genetic Testing into Primary Care as an Elective Clinical Service: the Sanford Health Experience

Implementing Diverse Community Engagement Studios: The Family History and Cancer Risk Study (FOREST) at Vanderbilt and Meharry Medical College

Patients' Reasons for Genetic Testing Refusal in Cancer Evaluations: An Analysis of the Literature and Opportunities to Educate.

Integration of personalized medicine into primary care clinics: a path to make large scale population genomics studies successful

Implementation and Impact of Dedicated Inpatient Genetic Counselors in a Children's Hospital

High Patient Satisfaction with Specialty Pediatric Services using Telemedicine during the COVID-19 pandemic

Improved Insurance Coverage of Exome Sequencing in an Outpatient Medical Genetics Clinic Increases in Diagnoses and Positively Impacts Clinical Management

Identifying clinical and psychological factors associated with genomics-related outcomes in a centralized sequencing protocol

'Doctors Shouldn't Have to Cheat the System': Clinicians' Real-world Experiences of the Utility of Genomic Sequencing

Extending cascade screening using genealogy, DTC genetics and social media - the ConnectMyVariant exploratory pilot study

Family-Level Utility of Pediatric Genomic Sequencing: A Qualitative Analysis and Attribute Framework

Cost-Effectiveness Frameworks for Comparing Genome and Exome Sequencing versus Conventional Diagnostic Pathways

Differences in Genetic Testing Uptake in a Large Metropolitan Pediatric Outpatient Genetics Clinic Over Time

Development and Validation of the Vanderbilt PRS-KS, an Instrument to Quantify Polygenic Risk Score Knowledge

Screening Results in 186 Any-health-status Adults in Primary Care Clinics Receiving Clinical NGS for 431 Health Risk and Recessive Genes